Advanced skin treatments in Swindon using IPL, laser and skin rejuvenation technology. Treat acne, pigmentation, rosacea, thread veins, scars, wrinkles, improve sun damage, overall skin quality and more at Epicare Health. IPL & Laser Skin Treatments in Swindon | Epicare Health Enhance your skin with advanced laser skin treatments at Epicare Health in Swindon. Our personalised approach uses clinically proven IPL and laser technology to treat a wide range of concerns, including acne, pigmentation, rosacea, thread veins, scarring, wrinkles, uneven skin texture, overall skin rejuvenation, as well as laser treatment for warts and fungal nail infections. Every treatment plan is tailored to your skin, supporting gradual, natural-looking improvements in skin tone, clarity, and overall appearance. Not sure which skin treatment is right for you? Book a free consultation with one of our expert practitioners. We’ll talk through your skin goals, answer any questions, and recommend the best treatment to suit your needs. FREE 15-minute consultation Book now FREE 15-minute consultation (Online Assessment) Book now IPL & Laser Treatment Patch Test Book now View full treatment details and information below: Acne Book now Acne Scars Book now IPL Photorejuvenation (Skin Rejuvenation) Book now Light & Bright - Skin Tone & Texture Rejuvenation Book now Pigmentation & Sun Spot Removal Book now Rosacea & Facial Redness Book now Scars & Stretch Marks Book now Thread Veins & Vascular Treatments Book now Warts & Fungal Nail Infections Book now Wrinkles, Fine Lines & Skin Texture Book now Book now

£129 < Back Genetic Haemochromotosis £129 Description: Detection of polymorphisms p.His63Asp, p.Ser65Cys and p.Cys282Tyr in the HFE gene associated with Haemochromatosis. Confirmatory diagnostic genetic testing to diagnose or rule out HH should be carried out for symptomatic individuals with biochemical evidence of iron overload. Gene List: HFE - The HFE gene is like your body's iron gatekeeper. It controls how much iron gets absorbed from your food and stored in your body. Imagine it as a security guard at a storage facility for iron. The normal HFE gene ensures that your body has enough iron for its important functions but not too much that it becomes harmful to you. The following Variations of this gene are mutations and have the following effects: C282Y: This is the most common variation and can significantly mess up the instructions. It might tell the guard to let in way too much iron. H63D and S65C: These are less common variations and may cause milder confusion, potentially leading to a smaller increase in iron absorption. Estimated Turnaround times: 7 Days Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£149 < Back Genetic Coeliac Disease £149 Description: A genetic celiac disease test analyzes your DNA to see if you carry genes associated with an increased risk of developing celiac disease. It doesn't diagnose celiac disease itself, but it can be a valuable tool for: understanding if you have a higher risk or if you have unexplained symptoms you suspect may be coeliac. Gene List: HLA-DQ2 - Well-characterized gene strongly linked to celiac disease [1]. People with certain variations of HLA-DQ2 are much more likely to develop celiac disease if they consume. HLA-DQ8 - The HLA-DQ8 gene, like HLA-DQ2, belongs to the Human Leukocyte Antigen (HLA) gene family. These genes play a crucial role in the immune system by helping immune cells distinguish "self" from "non-self," identifying and responding to foreign invaders like bacteria or viruses. Estimated Turnaround times: 7 Days Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£849 < Back Genetic Full Cancer Risk £849 Description: A Genetic Full Cancer Risk Test, analyses a multitude of genes associated with an increased risk of developing various cancers. This test can be particularly valuable for individuals with a strong family history of cancer, a personal history of early-onset cancer, or those belonging to ethnicities with higher risks for specific hereditary cancers. By identifying mutations in genes linked to these risks, the test helps assess an individual's overall cancer risk profile. While a positive result doesn't guarantee developing cancer, it allows for more proactive measures like earlier screenings, preventive medications, or even surgeries in some cases. However, it's important to remember that a negative result doesn't eliminate cancer risk entirely. Gene List: AIP (AIP Familial Adenomatous Polyposis): This gene is a tumor suppressor involved in the Wnt signalling pathway, which regulates cell growth and development. Mutations in AIP can cause Familial Adenomatous Polyposis (FAP), a condition characterized by the development of numerous polyps (precancerous growths) in the colon and rectum. ALK (Anaplastic Lymphoma Kinase): This gene encodes a protein involved in cell signalling. Mutations in ALK can cause some types of lung cancer, particularly those that are not associated with smoking. These ALK-positive lung cancers can often be treated with targeted therapies. APC (Adenomatous Polyposis Coli): This well-known tumour suppressor gene is the main culprit behind Familial Adenomatous Polyposis (FAP), like AIP. Mutations in APC disrupt the regulation of cell growth, leading to uncontrolled proliferation and polyp formation in the colon. ATM (Ataxia Telangiectasia Mutated): This gene plays a critical role in the DNA damage response pathway. When DNA damage occurs, ATM helps to activate cell cycle arrest and DNA repair mechanisms. Mutations in ATM can cause ataxia-telangiectasia, a rare genetic disorder characterized by progressive neurological problems, immune deficiencies, and an increased risk of cancer. BAP1 (BRCA1 Associated Protein 1): This gene encodes a protein that functions in several cellular processes, including DNA repair, cell cycle regulation, and tumour suppression. Mutations in BAP1 can increase the risk of various cancers, including uveal melanoma (eye cancer), mesothelioma (cancer of the lining of some organs), and renal cell carcinoma (kidney cancer). BLM (Bloom Syndrome): Mutations in this gene cause Bloom syndrome, a rare genetic disorder characterized by short stature, a predisposition to various cancers, and increased sensitivity to sunlight. BLM encodes a protein involved in DNA replication and repair. BMPR1A (Bone Morphogenetic Protein Receptor Type 1A): This gene encodes a protein involved in the transforming growth factor-beta (TGF-beta) signalling pathway, which regulates cell growth, differentiation, and development. Mutations in BMPR1A can cause Hereditary Haemorrhagic Telangiectasia (HHT), a condition characterized by abnormal blood vessel development that can lead to nosebleeds, bleeding in the lungs (pulmonary arteriovenous malformations - PAVMs), and sometimes in the brain. BRCA1 (Breast Cancer Gene 1): This well-known tumour suppressor gene plays a critical role in DNA repair. Mutations in BRCA1 significantly increase the risk of breast cancer, ovarian cancer, and some other cancers. BRCA2 (Breast Cancer Gene 2): Similar to BRCA1, BRCA2 is another tumour suppressor gene involved in DNA repair. Mutations in BRCA2 also significantly increase the risk of breast cancer and ovarian cancer, as well as other cancers. BRIP1 (BRCA1 Interacting Protein 1): This gene encodes a protein that interacts with BRCA1 and helps it function in DNA repair processes. Mutations in BRIP1 may slightly increase the risk of breast and ovarian cancer, but the association is not as strong as with BRCA1 and BRCA2 mutations. CDC73 (Cell Division Cycle 73): This gene plays a role in DNA replication during cell division. Mutations in CDC73 are not well understood but may be implicated in certain cancers. CDH1 (Cadherin 1): This gene encodes a protein involved in cell adhesion, which helps cells stick together and form tissues. Mutations in CDH1 have been linked to certain types of stomach cancer. CDK4 (Cyclin-Dependent Kinase 4): This gene encodes a protein that promotes cell cycle progression. CDK4 is involved in regulating the G1/S checkpoint, a critical control point in the cell cycle where the cell decides whether to proceed with DNA replication. Overactivity of CDK4 can contribute to uncontrolled cell growth and cancer development. CDKN1C (Cyclin-Dependent Kinase Inhibitor 1C, p57): In contrast to CDK4, this gene encodes a protein that inhibits cell cycle progression. CDKN1C (p57) acts as a tumour suppressor by preventing uncontrolled cell division. CDKN2A (Cyclin-Dependent Kinase Inhibitor 2A, p16): Like CDKN1C, CDKN2A (p16) is another tumour suppressor gene that inhibits cell cycle progression. Mutations in CDKN2A can be found in various cancers, including melanoma and pancreatic cancer. CEBPA (CCAAT/Enhancer Binding Protein Alpha): This gene is essential for the development and function of various blood cells, particularly granulocytes. Mutations in CEBPA can cause various blood disorders, including acute myeloid leukaemia (AML). CEP57 (Centrosomal Protein 57): This gene encodes a protein involved in the function of centrosomes, structures that play a critical role in cell division. Mutations in CEP57 have been linked to some types of cancer, but the exact mechanisms are not fully understood. CHEK2 (Checkpoint Kinase 2): This gene plays a role in DNA damage response and cell cycle arrest. CHEK2 helps to activate repair mechanisms when DNA damage occurs and can also trigger cell death if the damage is too severe. Mutations in CHEK2 can increase the risk of various cancers, including breast cancer and colon cancer. CYLD (Cylindromatosis): This gene encodes a protein involved in a signalling pathway that regulates cell growth and death. Mutations in CYLD can cause cylindromatosis, a rare genetic disorder characterized by the development of benign skin tumours. DDB2 (Damage Specific DNA Binding Protein 2): This gene encodes a protein involved in DNA repair. DDB2 helps to recognize damaged DNA and recruit repair proteins. Mutations in DDB2 can contribute to a condition called xeroderma pigmentosum, characterized by extreme sensitivity to sunlight and a high risk of skin cancer. DICER1 (Dicer 1, Ribonuclease Type III): This gene encodes an enzyme that plays a crucial role in processing microRNAs (miRNAs). miRNAs are small non-coding RNAs that regulate gene expression. Mutations in DICER1 can disrupt miRNA function and have been implicated in various cancers. DIS3L2 (DIS3 Like Dehydrogenase 2): This gene encodes an enzyme involved in DNA repair. Mutations in DIS3L2 are not well understood but may be linked to an increased risk of certain cancers. EGFR (Epidermal Growth Factor Receptor): This gene encodes a cell surface receptor protein involved in cell growth, proliferation, and survival. Mutations or overactivity of EGFR can contribute to the development of various cancers, including lung cancer, breast cancer, and colorectal cancer. Drugs targeting EGFR are used for the treatment in some cancers. EPCAM (Epithelial Cell Adhesion Molecule): This gene encodes a protein present on the surface of epithelial cells. EPCAM is not directly involved in cancer development but is a commonly used marker for identifying and isolating epithelial cancer cells in diagnostic tests. ERCC2, ERCC3, ERCC4, ERCC5 (Excision Repair Cross-Complementary): These four genes encode proteins involved in the nucleotide excision repair (NER) pathway, a major mechanism for repairing DNA damage caused by UV radiation and other agents. Mutations in any of these genes can increase the risk of skin cancer and other cancers. EXT1 & EXT2 (Exostoses [Hereditary Multiple] 1 & 2): These genes encode enzymes involved in the synthesis of heparan sulphate, a sugar molecule found on the cell surface. Mutations in EXT1 or EXT2 can cause hereditary multiple exostoses (HME), a skeletal disorder characterized by the development of benign bone tumours. EZH2 (Enhancer of Zeste Homolog 2): This gene encodes an enzyme that modifies chromatin, the tightly packed structure of DNA within the cell. EZH2 adds a chemical tag (methyl group) to histone proteins, which affects how genes are expressed. Mutations in EZH2 can disrupt normal gene regulation and have been implicated in various cancers, including certain types of lymphoma and myeloid leukemia. Overactivity of EZH2 can lead to uncontrolled cell growth. FANCA (Fanconi Anaemia, Complementation Group A): This gene is the first identified gene associated with Fanconi anemia (FA), a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of . FANCA is part of a complex pathway involved in DNA repair. Mutations in FANCA disrupt this pathway, leading to problems with DNA repair and increased chromosomal instability. FANCB (Fanconi Anaemia, Complementation Group B): Similar to FANCA, FANCB is another gene involved in the Fanconi anaemia pathway. The protein encoded by FANCB interacts with other FA proteins and plays a critical role in DNA repair. Mutations in FANCB also contribute to the development of Fanconi anaemia. FANCC - This gene is part of the Fanconi anaemia (FA) pathway, which plays a critical role in DNA repair. Mutations in FANCC can lead to FA, a rare genetic disorder characterized by bone marrow failure, developmental abnormalities, and an increased risk of leukaemia. FANCD2 (Fanconi Anaemia, Complementation Group D2): This gene is another key player in the Fanconi anaemia (FA) pathway. The protein encoded by FANCD2 interacts with FANCI to form a complex that is essential for DNA repair. Mutations in FANCD2 disrupt this complex and contribute to the development of FA. FANCE (Fanconi Anaemia, Complementation Group E): While less well-understood compared to other FA genes, FANCE is also part of the FA pathway. It likely functions in DNA repair processes, but the exact mechanisms are still being elucidated. Mutations in FANCE contribute to FA development, FANCF (Fanconi Anaemia, Complementation Group F): This gene encodes a protein involved in the FA pathway that interacts with several other FA proteins. FANCF plays a role in stabilizing DNA structures during repair processes. Mutations in FANCF disrupt this function and contribute to FA. FANCG (Fanconi Anaemia, Complementation Group G): Similar to FANCE, FANCG is another FA gene with a less well-defined role. It is likely involved in DNA repair processes, but the specific mechanisms require further research. Mutations in FANCG contribute to FA development. FANCI (Fanconi Anaemia, Complementation Group I): This gene encodes a protein that interacts with FANCD2 to form a complex crucial for DNA repair in the FA pathway. Mutations in FANCI disrupt this complex and contribute to FA. FANCL (Fanconi Anemia, Complementation Group L): This gene encodes a protein involved in the FA pathway that interacts with FANCM. FANCL plays a role in stabilizing DNA structures during repair processes. Mutations in FANCL disrupt this function and contribute to FA. FANCM (Fanconi Anaemia, Complementation Group M): This gene encodes a protein involved in the FA pathway that interacts with FANCL. FANCM plays a role in unwinding DNA structures during repair processes. Mutations in FANCM disrupt this function and contribute to FA. FH (Fumarate Hydratase): This gene encodes an enzyme involved in the citric acid cycle (Krebs cycle), a crucial metabolic pathway for energy production in cells. Mutations in FH can cause hereditary leiomyomatosis and renal cell cancer (HLRCC), a condition characterized by the development of benign smooth muscle tumours (leiomyomas) and an increased risk of kidney cancer. It's important to note that FH is not directly part of the FA pathway, but mutations can have similar consequences like increased risk of cancer. FLCN - Mutations in this gene cause Birt-Hogg-Dubé syndrome, a rare condition characterized by skin tumours, lung cysts, and a predisposition to kidney cancer. FLCN is a tumour suppressor gene, meaning it helps regulate cell growth and division. GATA2 - This gene is essential for the development of blood cells. Mutations in GATA2 can cause various blood disorders, including severe congenital neutropenia, a condition characterized by a lack of white blood cells. GPC3 - (Glypican 3) encodes a protein involved in cell signalling and development. HNF1A - This gene is involved in the development and function of the liver, kidneys, and pancreas. Mutations in HNF1A can cause maturity-onset diabetes of the young (MODY), a type of diabetes that appears in early adulthood. HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog): This gene encodes a protein called HRAS, a small GTPase involved in cell signaling pathways. HRAS regulates various cellular processes, including cell growth, proliferation, and differentiation. Mutations in HRAS that lead to its constant activation can contribute to uncontrolled cell growth and cancer development. KIT (Kirsten Rat Sarcoma Viral Oncogene Homolog): Similar to HRAS, KIT encodes a protein (KIT) that functions as a receptor tyrosine kinase in cell signalling. KIT plays a crucial role in various processes, including cell survival, proliferation, and migration. Mutations in KIT can lead to uncontrolled cell growth and various cancers, such as gastrointestinal stromal tumours (GIST) and certain types of leukemia. MAX (MYC Associated Factor X): This gene encodes a protein that interacts with MYC, a well-known oncogene involved in cell growth and proliferation. MAX regulates MYC activity and plays a role in cell cycle progression. Mutations in MAX can disrupt this regulation and potentially contribute to cancer development, although the exact mechanisms are still being investigated. MEN1 (Multiple Endocrine Neoplasia 1): This tumor suppressor gene is responsible for a condition called Multiple Endocrine Neoplasia type 1 (MEN1). MEN1 syndrome is characterized by the development of tumors in multiple endocrine glands, such as the parathyroid glands, pituitary gland, and pancreatic islet cells. Mutations in MEN1 disrupt its tumor suppressor function, leading to uncontrolled growth in these tissues. MET (MET Proto-Oncogene): This gene encodes a protein called MET, a receptor tyrosine kinase involved in cell signaling pathways that regulate cell growth, survival, and migration. Mutations in MET that lead to its constant activation can contribute to uncontrolled cell growth and various cancers, such as lung cancer, gastric cancer, and some types of papillary thyroid carcinoma. MLH1, MSH2, MSH6, PMS1, PMS2 (MutL Homolog 1, MutS Homolog 2, MutS Homolog 6, Postmeiotic Segregation 1, Postmeiotic Segregation 2): These five genes are all involved in DNA mismatch repair (MMR), a critical process for correcting errors that occur during DNA replication. Mutations in any of these genes can impair MMR, leading to increased mutations and a higher risk of developing certain cancers, particularly Lynch syndrome, a hereditary cancer syndrome characterized by an increased risk of colorectal cancer and other cancers. NBN (Nibrin): This gene encodes a protein involved in the DNA damage response pathway. NBN helps to activate cell cycle arrest and DNA repair mechanisms when DNA damage occurs. Mutations in NBN can disrupt this response, leading to increased genomic instability and a higher risk of developing cancers, such as breast cancer and leukemia. NF1 (Neurofibromatosis Type 1): This tumor suppressor gene is responsible for neurofibromatosis type 1 (NF1), a genetic disorder characterized by the development of non-cancerous tumors (neurofibromas) on the skin and nerves. Mutations in NF1 disrupt its tumor suppressor function, leading to uncontrolled growth of these tissues. NF2 (Neurofibromatosis Type 2): Similar to NF1, this tumor suppressor gene is responsible for neurofibromatosis type 2 (NF2), another genetic disorder characterized by the development of tumors on nerves and the formation of benign growths in the brain (meningiomas). Mutations in NF2 disrupt its tumor suppressor function, leading to uncontrolled growth in these tissues. NSD1 (Nuclear Receptor Binding SET Domain Protein 1): This gene encodes a protein involved in chromatin remodeling, which regulates how tightly DNA is packaged within the cell. NSD1 modifies histones (proteins around which DNA is wrapped) to influence gene expression. Mutations in NSD1 have been linked to certain types of leukemia and may disrupt normal gene regulation. PALB2 (Partner and Localizer of BRCA2): This gene encodes a protein that interacts with BRCA2, a well-known tumor suppressor gene involved in DNA repair. PALB2 helps BRCA2 function correctly in DNA repair processes. Mutations in PALB2 can increase the risk of breast cancer and other cancers like BRCA2 mutations but with a generally lower penetrance (likelihood of developing cancer). PHOX2B (Paired Box Homeobox 2B): This gene plays a critical role in the development and function of neural crest cells, which contribute to various tissues like the nervous system, bones, and pigment cells. Mutations in PHOX2B can cause various neurological disorders, including neuroblastoma (a childhood cancer) and congenital central hypoventilation syndrome (CCHS), a condition characterized by difficulty controlling breathing. PRF1 (Perforin 1): This gene encodes a protein called perforin, which is a key component of the immune system. Perforin helps cytotoxic T lymphocytes (CTLs) kill virus-infected cells and cancer cells by creating pores in their membranes. Mutations in PRF1 can impair CTL function and increase susceptibility to infections and certain cancers. PRKAR1A (Protein Kinase A Regulatory Subunit 1A): This gene encodes a regulatory subunit of protein kinase A (PKA), an enzyme involved in various cellular processes like metabolism, cell growth, and survival. Mutations in PRKAR1A can disrupt PKA signaling and have been linked to Carney syndrome, a rare genetic disorder characterized by various symptoms, including pigmented skin lesions, heart problems, and non-cancerous tumors. PTCH1 (Patched Homolog 1): This tumor suppressor gene plays a critical role in the Sonic Hedgehog signalling pathway, which is essential for embryonic development and regulates cell growth in adults. Mutations in PTCH1 can disrupt this pathway and lead to uncontrolled cell growth, contributing to various cancers, including basal cell carcinoma (a type of skin cancer) and medulloblastoma (a childhood brain tumor). PTEN (Phosphatase and Tensin Homolog): This well-known tumor suppressor gene encodes a protein that acts as a phosphatase, removing phosphate groups from other proteins. PTEN regulates cell growth, proliferation, and survival. Mutations in PTEN can lead to uncontrolled cell growth and contribute to various cancers, such as breast cancer, prostate cancer, and endometrial cancer. RAD51C & RAD51D (RAD51 Recombination Protein C & D): These two genes encode proteins involved in homologous recombination repair (HRR), a major pathway for repairing double-strand DNA breaks. RAD51C and RAD51D play crucial roles in this process by facilitating the exchange of genetic material between sister chromatids during DNA repair. Mutations in either gene can impair HRR and increase the risk of developing cancers, such as breast cancer and ovarian cancer. RB1 (Retinoblastoma 1): This tumor suppressor gene is named after the childhood eye cancer retinoblastoma, for which mutations in RB1 are a major cause. RB1 encodes a protein that regulates cell cycle progression. Mutations in RB1 disrupt this control and can lead to uncontrolled cell growth and various cancers, including retinoblastoma, osteosarcoma (bone cancer), and some types of lung cancer. RECQL4 (RecQ Like Helicase 4): This gene encodes a protein involved in DNA repair processes. RECQL4 functions in DNA unwinding and helps maintain genome stability. Mutations in RECQL4 can disrupt DNA repair and increase the risk of developing cancers, such as Bloom syndrome (a rare genetic disorder with cancer predisposition) and certain types of leukemia. RET (Rearranged Expressed Tyrosine Kinase): This gene encodes a receptor tyrosine kinase involved in various cellular processes, including cell development, migration, and survival. Mutations in RET can disrupt these processes and lead to various disorders, including Hirschsprung disease (a bowel disorder) and certain types of thyroid cancer. RHBDF2 (Rho GDP Dissociation Factor beta 2): This gene encodes a protein involved in regulating the Rho GTPase family, which plays a role in cell signaling pathways that control cell shape, movement, and adhesion. Mutations in RHBDF2 are not well understood but have been linked to some types of cancer, although the exact mechanisms are still being investigated. RUNX1 (Runt-related transcription factor 1): This gene encodes a protein that acts as a transcription factor, regulating the expression of other genes. RUNX1 plays a critical role in the development of various blood cells and the formation of bone. SBDS (Small Bard Syndrome 1): Mutations in this gene cause a rare genetic disorder called Shwachman-Diamond syndrome (SDS). SDHAF2 (Succinate Dehydrogenase Complex Assembly Factor 2): This gene encodes a protein involved in the assembly of succinate dehydrogenase (SDH), a complex enzyme within the mitochondria (energy-producing organelles in cells). SDHB - This gene provides instructions for making a protein involved in the complex process by which cells produce energy. Mutations in SDHB can cause hereditary paraganglioma-pheochromocytoma syndrome, characterized by tumours that develop in certain glands near the kidneys and adrenal glands. SDHC & SDHD (Succinate Dehydrogenase Complex Subunit C & D): These are not technically biomarkers themselves, but rather genes that encode subunits of an enzyme complex called succinate dehydrogenase (SDH). Mutations in these genes can lead to SDH deficiency, which can disrupt mitochondrial function and be associated with certain cancers, particularly paragangliomas (tumours arising from nerve cells near the kidneys and adrenal glands). However, SDH deficiency testing can be a biomarker used to diagnose SDH-deficient cancers. SLX4 (Single Locus X-linked 4): This gene encodes a protein involved in spermatogenesis (sperm production). Mutations in SLX4 are associated with a rare genetic disorder called X-linked sideroblastic anaemia, characterized by microcytic anaemia (small red blood cells) and iron overload in developing red blood cells. SLX4 mutations are not typically used as a biomarker for cancer. SMAD4 (SMAD Family Member 4): This gene encodes a protein involved in the transforming growth factor-beta (TGF-beta) signalling pathway, which regulates cell growth, differentiation, and development. Mutations in SMAD4 can disrupt this pathway and contribute to the development of various cancers, particularly pancreatic cancer, colorectal cancer, and head and neck cancers. SMAD4 loss can be a biomarker used for the diagnosis and prognosis of these cancers. SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subunit B1): This tumour suppressor gene plays a role in DNA repair and chromatin remodelling. Mutations in SMARCB1 can lead to a condition called schwannomatosis, characterized by the development of multiple benign nerve sheath tumours (schwannomas). Loss of SMARCB1 expression can also be a biomarker for certain cancers, such as epithelioid sarcoma and malignant rhabdoid tumours. STK11 (Serine/Threonine Kinase 11): This gene encodes a protein called LKB1, a tumour suppressor involved in regulating cell growth and metabolism. Mutations in STK11 can contribute to Peutz-Jeghers syndrome, a rare genetic disorder characterized by intestinal polyps and an increased risk of certain cancers, particularly colon cancer and lung cancer. STK11 mutations can be a biomarker for these cancers. SUFU (Suppressor of Fused): This gene encodes a protein that negatively regulates the Hedgehog signalling pathway, which plays a crucial role in embryonic development and regulates cell growth in adults. Mutations in SUFU can disrupt this pathway and lead to uncontrolled cell growth, contributing to various cancers, such as medulloblastoma (a childhood brain tumour) and basal cell carcinoma (a type of skin cancer). SUFU loss can be a biomarker for these cancers. TMEM127 (Transmembrane Protein 127): This gene encodes a protein with an unknown function. Mutations in TMEM127 have been linked to a rare neurodevelopmental disorder called Pitt-Hopkins syndrome. The role of TMEM127 mutations in cancer is not well understood, and it's not currently used as a biomarker. TP53 (Tumour Protein 53): This well-known tumour suppressor gene encodes a protein called p53, often referred to as the "guardian of the genome" due to its critical role in DNA repair, cell cycle arrest, and apoptosis (programmed cell death). Mutations in TP53 are the most common genetic alterations found in human cancers and can contribute to various types of cancer. TP53 mutations or loss of p53 function is a biomarker used in cancer diagnosis and prognosis. TSC1 & TSC2 (Tuberous Sclerosis Complex 1 & 2): These genes encode proteins that function as tumour suppressors in the mTOR signalling pathway, which regulates cell growth and proliferation. Mutations in TSC1 or TSC2 can lead to tuberous sclerosis complex (TSC), a genetic disorder characterized by the development of benign tumours in various organs, including the brain, skin, kidneys, and heart. TSC1/2 loss can also be a biomarker for certain cancers, such as renal cell carcinoma (kidney cancer). VHL (Von Hippel-Lindau): This tumour suppressor gene plays a critical role in regulating oxygen homeostasis (oxygen balance) in cells. Mutations in VHL can lead to von Hippel-Lindau disease, a genetic disorder characterized by the development of various tumours and cysts in different organs. VHL loss can also be a biomarker for certain cancers, such as renal cell carcinoma (kidney cancer) and hemangioblastomas (tumours of blood vessels). WRN (Werner Syndrome Recessive): Mutations cause Werner syndrome, a rare premature aging disorder. The WRN protein is involved in DNA repair, and mutations lead to DNA damage accumulation and symptoms like early cataracts and increased cancer risk. WT1 (Wilms Tumour 1): This gene encodes a protein that regulates other genes crucial for kidney and urogenital development. Mutations in WT1 can contribute to Wilms tumour, a childhood kidney cancer, and can be a biomarker for this type of cancer. XPA & XPC (Xeroderma Pigmentosum, Complementation Group A & C): These genes encode proteins involved in repairing DNA damage caused by UV radiation. Mutations in XPA or XPC can cause xeroderma pigmentosum (XP), a rare disorder with extreme sun sensitivity and a very high risk of skin cancer. Mutations can be used to diagnose XP. Estimated Turnaround times: 6 Weeks Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

Collagen Biostimulators Sculptra and Radiesse are both injectable biostimulators, but they are not interchangeable. Sculptra uses PLLA and is primarily selected for gradual collagen-led facial restoration over a staged course. Radiesse uses CaHA microspheres in a gel carrier and can combine immediate structural support with longer-term collagen and elastin stimulation. The best option depends on your anatomy, treatment area, desired speed of change and overall aesthetic plan. FREE 15-minute consultation Book now FREE 15-minute consultation (Online Assessment) Book now If you're interested in treating multiple areas or a combination of treatments—fill out our enquiry form for a personalized, cost-effective quote. Click here. Details on booking specific areas are provided below. Item Title Book now

£149 < Back Genetic Lactose Intolerance £149 Description: A genetic lactose intolerance test is a simple way to see if you have a genetic predisposition to lactose intolerance. It analyses your DNA to check for variations in a specific gene (LCT) that influences your body's ability to digest lactose, the sugar found in milk and dairy products. Gene List: Lactase gene (LCT) - this is responsible for producing lactase which is an enzyme that your body uses to digest lactase. Sometimes there are mutations to this gene which can be the cause of a genetic lactose intolerance. C13910T: This variation is like a missing comma in the instructions. It can significantly hinder lactase production, potentially leading to lactose intolerance. G22018A: This variation is less disruptive. It might be like a minor misspelling that doesn't significantly impact how the instructions are understood. The team can still build enough lactase for most people. People with two copies of the C1390T mutation are most likely to have a lactose intolerance. Estimated Turnaround times: 7 Days Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£599 < Back Genetic Familial Hypercholesterolaemia Risk £599 Description: Genetic Familial Hypercholesterolemia (FH) Risk Test analyses your DNA to assess your likelihood of inheriting this condition. FH is a genetic disorder causing high levels of "bad" cholesterol (LDL) in the blood. Gene List: APOB - The APOB gene plays an important role in cholesterol transport throughout the body. Mutations in this gene can lead to a variety of health problems, including familial hypercholesterolemia, a condition that causes high levels of LDL cholesterol in the blood. APOE - The APOE gene governs the production of a protein called apolipoprotein E, which is crucial for fat metabolism in your body. APOE variations can be linked to Alzheimer's, anxiety and depression. LDLR - The LDLR gene is like a blueprint for a critical protein called the low-density lipoprotein receptor (LDLR). This receptor plays a key role in managing cholesterol levels in your blood. LDLRAP1 - LDLRAP1 acts as a supporting player to LDLR, ensuring efficient processing of LDLs and maintaining healthy cholesterol balance. Mutations in this gene can disrupt this process and contribute to certain cholesterol disorders. PCSK9 - This gene encodes a protein called proprotein convertase subtilisin/kexin type 9. PCSK9 plays a critical role in regulating cholesterol levels by affecting LDLR, the LDL receptor you learned about earlier. Unlike LDLR and LDLRAP1 which directly remove LDL cholesterol, PCSK9 works in the opposite way. It targets LDLR for degradation, essentially reducing the number of LDL receptors available to grab LDL particles from the bloodstream. Estimated Turnaround times: 7 Days Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£579 < Back Genetic Breast and Ovarian Cancer Risk £579 Description: The hereditary breast and ovarian cancer genetic risk test covers 8 different genes including BRCA1 and BRCA2 associated with both hereditary breast and ovarian cancer. Gene List: ATM - The ATM gene, which stands for Ataxia-Telangiectasia Mutated, plays a critical role in the cellular response to DNA damage. Mutations in this gene can lead to a rare genetic disorder called ataxia-telangiectasia (A-T) and also increase the risk of developing various cancers. BRCA1 - The BRCA1 gene (Breast Cancer gene 1) is a well-known tumour suppressor gene that plays a critical role in DNA repair. Mutations in this gene significantly increase a woman's risk of developing breast cancer and ovarian cancer, and can also elevate cancer risk in men to a lesser extent. BRCA2 - The BRCA2 gene, standing for Breast Cancer gene 2, is another critical tumour suppressor gene that works alongside BRCA1 to safeguard our genetic information. Mutations in BRCA2 significantly increase the risk of developing breast and ovarian cancers, similar to BRCA1, but also influence the risk of other cancers. CDH1 - The CDH1 gene provides instructions for making a protein called epithelial cadherin (E-cadherin). This protein plays a critical role in cell adhesion, a process where cells stick to each other and to the surrounding extracellular matrix (ECM). CHEK2 - The CHEK2 gene encodes a protein called checkpoint kinase 2, which plays a critical role in maintaining genomic stability. Mutations in this gene can increase the risk of developing various cancers. PALB2 - The PALB2 gene, also known as Partner And Localizer Of BRCA2, is a tumour suppressor gene that plays a critical role in the DNA repair process. It helps maintain the stability of a cell's genetic material, PALB2 mutations can cause cancer. PTEN - Mutations or deletions in the PTEN gene can impair its function. This can lead to uncontrolled cell division and contribute to the development of various cancers, including those of the prostate, breast, lung, and endometrium TP53 - This protein is a major tumour suppressor, meaning it acts like a guardian of the genome by regulating cell division and preventing uncontrolled cell growth. Estimated Turnaround times: 6 Weeks Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£579 < Back Genetic Prostate Cancer Risk £579 Description: If a mutation is identified in a known prostate cancer risk gene, it indicates an increased risk compared to the general population. However, it doesn't guarantee you will develop cancer. The specific gene mutated and your family history can influence the risk level. In the same way, if no mutations are found this does not guarantee that you will not develop prostate cancer from other risk factors or unknown genetic variations. Gene List: ATM (Ataxia Telangiectasia Mutated): This gene plays a critical role in the DNA damage response pathway. When DNA damage occurs, ATM helps to activate cell cycle arrest and DNA repair mechanisms. Mutations in ATM can cause ataxia-telangiectasia, a rare genetic disorder characterized by progressive neurological problems, immune deficiencies, and an increased risk of cancer. BRCA1 (Breast Cancer Gene 1): This well-known tumour suppressor gene plays a critical role in DNA repair. Mutations in BRCA1 significantly increase the risk of breast cancer, ovarian cancer, and some other cancers. BRCA2 (Breast Cancer Gene 2): Similar to BRCA1, BRCA2 is another tumour suppressor gene involved in DNA repair. Mutations in BRCA2 also significantly increase the risk of breast cancer and ovarian cancer, as well as other cancers. CHEK2 (Checkpoint Kinase 2): This gene plays a role in DNA damage response and cell cycle arrest. CHEK2 helps to activate repair mechanisms when DNA damage occurs and can also trigger cell death if the damage is too severe. Mutations in CHEK2 can increase the risk of various cancers, including breast cancer and colon cancer. EPCAM (Epithelial Cell Adhesion Molecule): This gene encodes a protein present on the surface of epithelial cells. EPCAM is not directly involved in cancer development but is a commonly used marker for identifying and isolating epithelial cancer cells in diagnostic tests. MSH6 , MLH1 & MSH2 : These genes are all involved in DNA mismatch repair (MMR), a critical process for correcting errors that occur during DNA replication. Mutations in any of these genes can impair MMR, leading to increased mutations and a higher risk of developing certain cancers NBN (Nibrin): This gene encodes a protein involved in the DNA damage response pathway. NBN helps to activate cell cycle arrest and DNA repair mechanisms when DNA damage occurs. Mutations in NBN can disrupt this response, leading to increased genomic instability and a higher risk of developing cancers, such as breast cancer and leukaemia. PALB2 (Partner and Localizer of BRCA2): This gene encodes a protein that interacts with BRCA2, a well-known tumour suppressor gene involved in DNA repair. PALB2 helps BRCA2 function correctly in DNA repair processes. Mutations in PALB2 can increase the risk of breast cancer and other cancers like BRCA2 mutations but with a generally lower penetrance (likelihood of developing cancer). PMS2 : This gene checks for errors in cell division and works with other proteins to repair them. Sometimes, mistakes (mutations) can occur in the PMS2 gene. These variations can weaken the PMS2 protein or prevent it from working correctly. This can lead to uncorrected errors in the DNA blueprints, which over time might increase the risk of certain cancers, particularly colorectal cancer (cancer of the colon and rectum) and endometrial cancer (cancer of the lining of the uterus). This is known as Lynch syndrome RAD51D: This gene plays a vital role in a process called DNA double-strand repair, a process that fixes severe breaks in DNA Blueprints, which are essential for maintaining healthy cells. Mutations in the RAD51D gene can affect its ability to function correctly. This can hinder the cell's ability to repair DNA double-strand breaks effectively. Over time, this might increase the risk of developing certain cancers, particularly breast cancer, ovarian cancer, and pancreatic cancer. HOXB13: The two main roles of this gene are skin development and maintenance and potential tumour suppressor. sometimes, changes (mutations) can occur in the HOXB13 gene. These variations might: Affect its role in skin development, potentially leading to skin conditions (although this is less well-understood). Impair its tumour suppressor function, potentially increasing the risk of certain cancers, particularly prostate cancer. TP53 (Tumour Protein 53): This well-known tumour suppressor gene encodes a protein called p53, often referred to as the "guardian of the genome" due to its critical role in DNA repair, cell cycle arrest, and apoptosis (programmed cell death). Mutations in TP53 are the most common genetic alterations found in human cancers and can contribute to various types of cancer. TP53 mutations or loss of p53 function is a biomarker used in cancer diagnosis and prognosis. Estimated Turnaround times: 6 Weeks Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

Explore our extensive range of blood tests designed to meet all your health needs. Fast, reliable results help you stay informed and proactive about your health. Book your appointment today and take control of your well-being. Blood Tests We offer various blood tests in Swindon that can help diagnose diseases or conditions and help you better understand your physical health. We provide several test profiles as well as take custom requests. Need a custom blood test ? please submit an enquiry form here Just need a blood draw service (phlebotomy) ? Book your appointment here 1,25-OH Vitamin D3 Book now 17 Hydroxyprogesterone Book now ANCA (Anti-Neutropil Cytoplasmic Abs) Book now Acute Viral Hepatitis Screen Book now Adiponectin Book now Alanine Aminotransferase Book now Albumin Book now Aldolase Book now Alkaline Phosphatase Book now Alkaline Phosphate Isoenzymes Book now Alpha Fetoprotein Book now Aluminium (Plasma) Book now Load more

£899 < Back Genetic Full Cardiac Risk £899 Description: The Genetic Full Cardiac Risk /tests analyses a large panel of genes associated to inherited cardiac conditions, to identify any gene mutations that could increase your risk of developing certain heart conditions. Gene List: ABCC9, ABCG5, ABCG8: These are genes for cell guards that move cholesterol, bile acids, and drugs around your body. Mutations can mess up this job and lead to health problems. ACTA1 & ACTA2: Genes that encode alpha-actin isoforms, essential structural proteins within skeletal and smooth muscle cells, respectively. Mutations in these genes can lead to a variety of myopathies (muscle diseases) by disrupting proper muscle function. ACTC1: This gene encodes alpha-cardiac actin, a specific type of actin found in heart muscle cells. Mutations in ACTC1 can disrupt cardiac muscle function and contribute to cardiomyopathy (heart muscle disease). ACTN2: This gene encodes alpha-actinin-2, a protein that links actin filaments within muscle cells, playing a role in muscle contraction and force generation. Mutations in ACTN2 can affect muscle function and performance, though the specific effects can vary. AKAP9: This gene encodes a protein that acts as a scaffold, anchoring other signalling proteins within cells. Mutations in AKAP9 have been linked to some neurological disorders, but the exact mechanisms are still being investigated. ALMS1: This gene encodes a protein involved in the development and function of the inner ear. Mutations in ALMS1 can cause Alport syndrome, a genetic disorder characterized by progressive hearing loss, kidney problems, and eye abnormalities. ANK2 & ANKRD1: These genes encode proteins containing ankyrin repeats, which are protein domains involved in protein-protein interactions. Mutations in these genes can have various effects depending on the specific protein and its function. Their roles in cancer and other diseases are still being investigated. APOA4 & APOA5: These genes encode apolipoproteins, which are proteins that bind to lipids (fats) like cholesterol and triglycerides in the bloodstream. They play a crucial role in transporting lipids throughout the body. APOB: This gene encodes apolipoprotein B, the main protein component of low-density lipoprotein (LDL), often called "bad cholesterol." LDL transports cholesterol to tissues, and high LDL levels contribute to atherosclerosis. Mutations in APOB can increase LDL levels and cardiovascular risk. APOC2 (Apolipoprotein C2): This gene encodes apolipoprotein C2, a protein component of lipoproteins. APOC2 plays a role in regulating triglyceride levels. Mutations in APOC2 can influence blood fat levels and contribute to an increased risk of heart disease in some cases, although the exact mechanisms are still being investigated. APOE (Apolipoprotein E): This gene encodes apolipoprotein E (ApoE), another crucial protein component of lipoproteins. ApoE plays a vital role in cholesterol transport and metabolism. BAG3 (BCL2-Associated Athanogeen 3): This gene encodes a protein involved in various cellular processes, including protein folding, stress response, and apoptosis (programmed cell death). Mutations in BAG3 are not well understood but have been linked to some cancers, although the specific mechanisms are still being investigated. BRAF (V-raf murine sarcoma viral oncogene homolog B1): This gene encodes a protein called BRAF, which is a key player in the MAPK (mitogen-activated protein kinase) signalling pathway, which regulates cell growth, proliferation, and differentiation. Mutations in BRAF, particularly a mutation called V600E, are common drivers of various cancers, including melanoma (skin cancer), colorectal cancer, and some types of lung cancer. Drugs targeting BRAF mutations have become important therapeutic options for these cancers CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha 1C): This gene encodes a subunit of a voltage-gated calcium channel. These channels are critical for regulating calcium influx into cells, which plays a role in various cellular processes, including muscle contraction, nerve signalling, and hormone release. Mutations in CACNA1C can disrupt calcium signalling and contribute to various neurological disorders, including Timothy syndrome (characterized by cardiac malformations, long QT syndrome, and autism spectrum disorder). CACNA2D1 (Calcium Voltage-Gated Channel Auxiliary Subunit Delta 1): This gene encodes a protein that acts as an auxiliary subunit of voltage-gated calcium channels. These auxiliary subunits modulate the function of the main channel protein. Mutations in CACNA2D1 can also disrupt calcium signalling and have been linked to some neurological disorders, including epilepsy and migraine, although the specific mechanisms are still being elucidated. CACNB2 (Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2): Like CACNA2D1, this gene encodes another auxiliary subunit of voltage-gated calcium channels. Mutations in CACNB2 can also disrupt calcium signalling and contribute to various neurological disorders, including episodic ataxia type 2 (characterized by episodes of loss of coordination) and spinocerebellar ataxia type 11 (a neurodegenerative disorder affecting movement and coordination). CALM1 (Calmodulin 1): This gene, already described previously, encodes calmodulin, a ubiquitous calcium-binding protein. Calmodulin acts as a calcium sensor in cells, and upon binding calcium, it activates or regulates various other proteins involved in numerous cellular processes, including muscle contraction, cell signalling, and enzyme activity. CALR3 (Calreticulin 3): This gene encodes calreticulin, another calcium-binding protein located in the endoplasmic reticulum (ER), a cellular compartment involved in protein folding and quality control. Calreticulin plays a role in protein folding, calcium homeostasis, and signalling pathways. Mutations in CALR3 are not well understood but have been associated with some rare genetic disorders, potentially affecting protein processing in the ER. CASQ2 (Calsequestrin 2): This gene encodes a calcium-binding protein located in the sarcoplasmic reticulum (SR) of muscle cells. The SR is a specialized ER that stores calcium for muscle contraction. CASQ2 plays a critical role in storing and releasing calcium within muscle cells. Mutations in CASQ2 can disrupt calcium handling and contribute to various muscle disorders, including catecholaminergic polymorphic ventricular tachycardia (CPVT), a heart rhythm disorder. CAV3 (Caveolin 3): This gene encodes caveolin-3, a protein that is a major component of caveolae, small invaginations (pockets) in the cell membrane. Caveolae are involved in various cellular processes, including cholesterol transport, signal transduction, and endocytosis (cellular uptake of substances). Mutations in CAV3 can disrupt caveolae function and have been linked to some muscular dystrophies and limb-girdle muscular weakness. CB2 (Cannabinoid Receptor 2): This gene encodes the cannabinoid receptor 2 (CB2), a G protein-coupled receptor (GPCR) located primarily on immune cells. CB2 receptors bind to cannabinoids, including the psychoactive compound THC found in marijuana. However, unlike the CB1 receptor found in the nervous system, CB2 activation is not associated with psychoactive effects. CB2 receptors play a role in immune regulation and inflammation. Mutations in CB2 are rare but could potentially affect immune function. CBL (CBL Proto-Oncogene Like): This gene encodes a protein called CBL, which acts as a tumour suppressor. CBL is involved in regulating the activity of various signalling pathways that control cell growth, proliferation, and survival. Mutations in CBL can disrupt its tumour suppressor function and contribute to the development of certain cancers, particularly leukaemia and some types of lung cancer. CETP (Cholesteryl Ester Transfer Protein): This gene encodes cholesteryl ester transfer protein (CETP), an enzyme that plays a crucial role in cholesterol metabolism. CETP transfers cholesterol esters between lipoproteins in the bloodstream. Mutations in CETP can affect cholesterol levels. Some variations in CETP have been associated with a lower risk of heart disease, and drugs that inhibit CETP are being investigated as potential therapies for high cholesterol. COL3A1 (Collagen Type III Alpha 1 Chain): This gene encodes type III collagen, a major structural protein found in connective tissues throughout the body, including skin, blood vessels, and muscles. Mutations in COL3A1 can disrupt collagen structure and function, leading to Ehlers-Danlos syndrome type IV, a genetic disorder characterized by loose joints, hypermobility, and fragile skin. COL5A1 & COL5A2 (Collagen Type V Alpha 1 & 2 Chains): These genes encode the two chains that form type V collagen, another structural protein found in connective tissues, particularly in the basement membrane, a specialized layer underlying epithelial tissues. Mutations in either gene can disrupt type V collagen function and contribute to Ehlers-Danlos syndrome type I, a genetic disorder characterized by loose joints, hypermobility, and fragile skin. COX15 (Cytochrome C Oxidase Subunit 15): This gene encodes a subunit of cytochrome c oxidase, a key enzyme complex in the mitochondrial electron transport chain. The electron transport chain is essential for cellular respiration, the process by which cells generate energy (ATP). Mutations in COX15 can impair mitochondrial function and contribute to mitochondrial diseases, a group of disorders characterized by a variety of symptoms depending on the affected tissues. CREB3L3 (CREB Binding Protein 3 Like 3): This is not a well-established biomarker yet. The CREB3L3 protein interacts with other proteins involved in cell growth and differentiation, but its specific role in disease is not fully understood. More research is needed to determine if CREB3L3 has potential as a biomarker. CRELD1 (Cysteine Rich With EGF Like Domains 1): Similar to CREB3L3, CRELD1 is a protein with limited understanding in the context of biomarkers. While it interacts with proteins involved in cell adhesion and migration, its role in disease development and potential as a biomarker require further investigation. CRYAB (Crystallin Beta A): This protein is a major component of the eye lens, and mutations in CRYAB can cause cataracts. However, CRYAB is not typically used as a biomarker itself. Cataract diagnosis is usually based on visual examination and imaging techniques. CSRP3 (Cysteine and Glycine Rich Protein 3): CSRP3 is a protein with unknown function. While it's found in various tissues, its role in health and disease is not well-characterized. Therefore, CSRP3 is not currently used as a biomarker. CTF1 (Chromosome Transmission Fidelity 1): This protein plays a role in DNA replication and chromosome segregation during cell division. Mutations in CTF1 can disrupt these processes and contribute to chromosomal instability, which is a hallmark of cancer. However, CTF1 is not routinely used as a biomarker for cancer diagnosis. Genetic testing for specific mutations or other approaches are usually employed for cancer diagnosis. DES (Desmin): Desmin is a protein that forms intermediate filaments, which provide structural support within muscle cells. Mutations in the DES gene can cause various desminopathies, a group of muscle disorders. While DES testing can be used to diagnose desminopathies in some cases, it's not a general biomarker for muscle diseases. DMD (Dystrophin): Dystrophin is a large protein that plays a critical role in maintaining muscle integrity. Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), a progressive muscle wasting disorder. DMD testing is a well-established diagnostic tool for DMD. DNAJC19 (DnaJ Heat Shock Protein 19): This protein is a co-chaperone involved in protein folding and degradation within cells. Mutations in DNAJC19 have been linked to Parkinson's disease, but its utility as a biomarker is still under investigation. More research is needed to determine if DNAJC19 testing can be used for diagnosing or monitoring Parkinson's disease. DOLK (Dolichol Kinase): Dolichol kinase is an enzyme involved in the synthesis of N-glycans, which are sugar chains attached to proteins. Mutations in DOLK can cause a rare genetic disorder called congenital disorder of glycosylation type Ik (CDG-Ik), characterized by various neurological and developmental problems. DOLK testing can be used to diagnose CDG-Ik, but it's not a general biomarker for other conditions. DPP6 (Dipeptidyl Peptidase 6): This enzyme is involved in the metabolism of various peptides (short chains of amino acids). Mutations in DPP6 are associated with a rare genetic disorder called trichohepatoenteric syndrome (THES), characterized by diarrhoea, intestinal malabsorption, and sparse hair. DPP6 testing can be used to diagnose THES, but it's not a general biomarker for other conditions. DSC2 (Desmocollin 2): Desmocollin 2 is a protein involved in cell adhesion, particularly in the skin. Mutations in DSC2 can cause a blistering skin disorder called autosomal recessive amelogenesis imperfecta (AR-AI), which affects tooth enamel development. DSC2 testing can be used to diagnose AR-AI, but it's not a general biomarker for other skin conditions. DSG2 (Desmoglein 2): This gene encodes desmoglein-2, a protein that plays a crucial role in cell adhesion, particularly in the skin and heart. Desmoglein-2 helps connect cells together to form strong, cohesive tissues. Mutations in DSG2 can disrupt cell adhesion and contribute to various genetic disorders. SP (Desmoplakin): This gene encodes desmoplakin, another protein involved in cell adhesion. Desmoplakin acts as a linker protein, connecting desmosomal cadherins (like DSG2) to the intermediate filament network within cells, providing strong adhesion between cells. Mutations in DSP can also disrupt cell adhesion and lead to similar disorders as DSG2 mutations, including AR-AI, palmoplantar keratoderma, and certain types of cardiomyopathy. DTNA (Dystrophin alpha): This gene encodes dystrophin, the same protein discussed previously for DMD. Mutations in DTNA cause Duchenne muscular dystrophy (DMD), a progressive muscle wasting disorder. DTNA testing is a well-established diagnostic tool for DMD. EFEMP2 (EGF-Containing Fibrillin-Like Extracellular Matrix Protein 2): This gene encodes a protein found in the extracellular matrix, a network of proteins and sugars that provides support and structure to tissues. EFEMP2 plays a role in cell adhesion, migration, and development. Mutations in EFEMP2 can contribute to various disorders. ELN (Elastin): This gene encodes elastin, a protein that provides elasticity and flexibility to various tissues, particularly in the lungs, blood vessels, and skin. Mutations in ELN can disrupt elastin function and contribute to supravalvular aortic stenosis (SVAS) and Williams-Beuren Syndrome. MD (Emerin): This gene encodes emerin, a protein located in the inner nuclear membrane (nuclear envelope) of cells. Emerin plays a role in nuclear structure and function. Mutations in EMD can cause Emery-Dreifuss muscular dystrophy (EDMD), a progressive muscle wasting disorder that also affects the heart and other tissues. EYA4 (EYA Transcriptional Coactivator and Partner of SIX Family Members 4): This gene encodes a protein involved in various developmental processes, particularly development of the eyes, ears, and kidneys. Mutations in EYA4 can cause various branchiootorenal (BOR) syndromes, a group of disorders affecting these organ systems. Symptoms can vary depending on the specific mutation but may include hearing loss, kidney malformations, and eye defects. FBN1 (Fibrillin-1): This gene encodes fibrillin-1, a major structural protein in the extracellular matrix. Fibrillin-1 forms microfibrils, which provide scaffolding and support for various tissues, particularly in the lungs, heart, and skin. Mutations in FBN1 cause Marfan syndrome. FBN2 (Fibrillin-2): This gene encodes fibrillin-2, another protein found in the extracellular matrix. While like FBN1, FBN2 is expressed in a more limited set of tissues. Mutations in FBN2 can cause congenital contractual arachnodactyly (CCA), a connective tissue disorder with features that overlap with Marfan syndrome but are typically less severe. FHL1 & FHL2 (Four and a Half LIM Domains 1 & 2): FHL1 and FHL2 are genes that code for proteins that act like assistants in muscle cells. They help other proteins function properly, particularly during muscle development and repair. Mutations in FHL1 might be linked to muscle disorders. FKRP (Fukutin-Related Protein): This gene encodes a protein involved in glycosylation, the process of adding sugar chains to proteins. Mutations in FKRP can disrupt glycosylation and contribute to a form of Limb-Girdle Muscular Dystrophy type 2K (LGMD2K), a progressive muscle wasting disorder. FKTN (Fkbp15-Associating Protein): This gene encodes a protein that interacts with another protein called FKBP15. FKBP15 is involved in regulating various cellular processes, including signal transduction and protein folding. Mutations in FKTN are rare, and their impact on health is not fully understood. More research is needed to determine if FKTN mutations contribute to any specific diseases. FXN (Frataxin): This gene encodes frataxin, a protein essential for iron metabolism within mitochondria, the cell's energy powerhouses. Mutations in FXN cause Friedreich's ataxia, a neurodegenerative disorder affecting the nervous system, heart, and muscles. GAA (Lysosomal Alpha-Glucosidase A): This gene encodes the enzyme lysosomal alpha-glucosidase A, which breaks down glycogen, a form of stored sugar, within lysosomes (cellular compartments for waste disposal). Mutations in GAA cause Pompe disease, a lysosomal storage disorder characterized by progressive muscle weakness and respiratory problems. GATAD1 (Galactosyltransferase-activating Protein 6 Like): This gene encodes a protein involved in a specific type of glycosylation. Mutations in GATAD1 are rare, and their association with any diseases is not well-established. More research is needed to understand its role in health and disease. GCKR (Glucocorticoid Receptor Kinase): This gene encodes a protein that regulates the activity of the glucocorticoid receptor, a protein involved in the response to stress hormones like cortisol. Mutations in GCKR are rare, and their impact on health is not fully understood. Further research is needed to determine if they contribute to any specific conditions. GJAS (Gap Junction Alpha-12): This gene encodes a protein that forms gap junctions, channels that allow communication between neighbouring cells. Mutations in GJAS can disrupt cell communication and have been linked to a rare neurologic disorder called Charcot-Marie-Tooth disease type X (CMTX), characterized by progressive weakness and loss of sensation in the hands and feet. GLA (Lysosomal Alpha-Galactosidase A): This gene encodes the enzyme lysosomal alpha-galactosidase A, which breaks down a specific type of sugar molecule within lysosomes. Mutations in GLA cause Fabry disease, another lysosomal storage disorder affecting various organs, including the skin, kidneys, heart, and nervous system. GPD1L (Glycerol-3-Phosphate Dehydrogenase 1 Like): This gene encodes a protein with a similar structure to glycerol-3-phosphate dehydrogenase 1, an enzyme involved in energy metabolism. However, the exact function of the GPD1L protein is not fully understood. Mutations in GPD1L are rare, and their association with any specific diseases is not established. More research is required. GPIHBP1 (Glycosylphosphatidylinositol-Anchored High-Molecular-Weight Bone Glycoprotein 1): This gene encodes a protein anchored to the cell membrane by a glycosylphosphatidylinositol (GPI) anchor. The function of this protein is not fully understood, and mutations in GPIHBP1 are rare. More research is needed to determine if they play a role in any diseases. HADHA (Hydroxyacyl-Coenzyme A Dehydrogenase Trifunctional Multienzyme Complex Subunit Alpha): This gene encodes a subunit of a multi-enzyme complex involved in fatty acid metabolism within mitochondria. Mutations in HADHA can disrupt fatty acid breakdown and contribute to various mitochondrial disorders, presenting with a variety of symptoms depending on the affected tissues. HCN4 (Hyperpolarization-activated Cyclic Nucleotide Gated Potassium Channel 4): This gene encodes a protein that forms ion channels in the heart. These channels are involved in regulating the electrical activity of the heart. Mutations in HCN4 can disrupt heart rhythm and contribute to certain types of arrhythmias (irregular heartbeats). H FE (Hemochromatosis Gene): This gene encodes a protein involved in iron regulation within the body. Mutations in HFE can lead to hemochromatosis, a condition where iron accumulates in excess in various organs, potentially damaging them. HRAS (Harvey Rat Sarcoma Viral Oncogene Homolog): This gene encodes a protein called HRAS, which is involved in various cellular processes, including cell growth, proliferation, and differentiation. HSPB8 (Heat Shock Protein Beta-8): This gene encodes a protein called heat shock protein beta-8 (HSPB8). HSPB8 is a chaperone protein, which helps other proteins fold properly and prevents them from misfolding and aggregating. Mutations in HSPB8 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. ILK (Integrin-Linked Kinase): This gene encodes a protein called integrin-linked kinase (ILK). ILK plays a crucial role in cell adhesion, migration, and survival. It acts as a signalling molecule at focal adhesions, which are attachment points between cells and the extracellular matrix (the network of proteins and sugars that provides support and structure to tissues). Mutations in ILK can disrupt cell adhesion and have been linked to some cancers, although the specific mechanisms are still being investigated. JAG1 (Jagged 1): This gene encodes a protein called Jagged1, which is a ligand (signalling molecule) for Notch receptors. Notch signalling is a critical pathway involved in various developmental processes, including cell fate determination, differentiation, and proliferation. Mutations in JAG1 can disrupt Notch signalling and contribute to various developmental disorders, such as Alagille syndrome, characterized by malformations of the heart, liver, and other organs. JPH2 (Junctional Phareochromia Susceptibility 2): This gene encodes a protein involved in chromaffin cell development. Chromaffin cells are neuroendocrine cells located in the adrenal glands that produce hormones like adrenaline and noradrenaline. Mutations in JPH2 can disrupt chromaffin cell development and increase the risk of a rare tumour called pheochromocytoma, which arises from these cells. JUP (Junctional Plakoglobin): This gene encodes a protein called junctional plakoglobin (JUP). JUP is a component of desmosomes, structures that mediate cell-cell adhesion in epithelial tissues (tissues that cover the surface of the body and line organs). Mutations in JUP can disrupt cell adhesion and contribute to a skin blistering disorder called epidermolysis bullosa simplex (EBS). KCNA5, KCND3, KCNE1-3, KCNH2, KCNJ2, KCNJ5, KCNJ8 : These all encode various subunits of potassium channels. Potassium channels are essential for regulating the flow of potassium ions across cell membranes. This plays a critical role in various cellular processes, including nerve impulses, muscle contraction, and heartbeat. Mutations in these genes can disrupt potassium channel function and contribute to various channelopathies, which are diseases caused by dysfunction of ion channels. KCNQ1 (Potassium Voltage-Gated Channel Subfamily Q Member 1): This gene encodes a subunit of voltage-gated potassium channels in the nervous system and inner ear. These channels are critical for regulating nerve impulses and hearing function. Mutations in KCNQ1 can disrupt potassium channel function and contribute to various neurological disorders including benign familial neonatal seizures, and mesial temporal lobe epilepsy. KLF10 (Kruppel-Like Factor 10): This gene encodes a protein that acts as a transcription factor, regulating the expression of other genes. KLF10 plays a role in various cellular processes, including cell differentiation, proliferation, and survival. Mutations in KLF10 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. KRAS (Kirsten Rat Sarcoma Viral Oncogene Homolog): We previously discussed HRAS. Here's a quick recap for KRAS: This gene encodes a protein called KRAS, which is another member of the RAS protein family involved in various cellular processes, including cell growth, proliferation, and differentiation. Mutations in KRAS are among the most common genetic alterations in various cancers, including colorectal cancer, lung cancer, and pancreatic cancer. KRAS mutations can promote uncontrolled cell growth and contribute to tumour development. LAMA2 & LAMA4 (Laminin Subunit Alpha 2 & 4): These genes encode subunits of laminin, a major protein component of the basement membrane, a specialized layer underlying epithelial tissues. Laminins provide structural support and regulate cell adhesion, migration, and differentiation. Mutations in LAMA2 or LAMA4 can disrupt basement membrane function and contribute to various genetic disorders, including: junctional epidermolysis bullosa (JEB), and hereditary nephronophthisis (HNPH) LAMP2 (Lysosomal Associated Membrane Protein 2): This gene encodes a protein called lysosomal-associated membrane protein 2 (LAMP2). LAMP2 is found on the membrane of lysosomes, cellular compartments that break down waste materials and recycle cellular components. Mutations in LAMP2 can disrupt lysosomal function and contribute to Danon disease, a rare inherited disorder affecting the heart, skeletal muscles, and eyes. LDB3 (Lim Domain Binding 3): This gene encodes a protein involved in various cellular processes, including cell adhesion, migration, and development. Mutations in LDB3 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. LDLR (Low-Density Lipoprotein Receptor): This gene encodes the low-density lipoprotein (LDL) receptor, a protein on the surface of liver cells that plays a crucial role in cholesterol metabolism. LDLs are often referred to as "bad cholesterol" because they transport cholesterol particles throughout the body. The LDL receptor removes LDLs from the bloodstream, helping to maintain healthy cholesterol levels. Mutations in LDLR can impair LDL clearance and contribute to familial hypercholesterolemia, a condition characterized by high LDL cholesterol levels, which increases the risk of atherosclerosis (plaque buildup in arteries) and heart disease. LDLRAP1 (LDL Receptor Adapter Protein 1): This gene encodes a protein that acts as an adaptor molecule, facilitating the interaction between the LDL receptor and other proteins involved in LDL uptake. Mutations in LDLRAP1 can also disrupt LDL clearance and contribute to familial hypercholesterolemia. LMF1 (Lipopolysaccharide Mediated Factor 1): This gene encodes a protein involved in the immune response. LMF1 is produced by immune cells and plays a role in inflammatory processes. Mutations in LMF1 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. LMNA (Lamin A/C): We previously discussed LMNA. Here's a quick summary: This gene encodes Lamin A/C, a protein that forms part of the nuclear lamina, a meshwork lining the inside of the nucleus that provides structural support and plays a role in gene expression. Mutations in LMNA can disrupt nuclear function and cause various genetic disorders, including some types of muscular dystrophy and premature aging syndromes like progeria. Mutations in LMNA can also contribute to heart Problems. LPL (Lipoprotein Lipase): This gene encodes lipoprotein lipase (LPL), an enzyme attached to the walls of blood vessels in various tissues, particularly muscle and fat. LPL plays a crucial role in cholesterol metabolism. It breaks down triglycerides (a type of fat) carried by lipoproteins (particles that transport cholesterol in the bloodstream). Mutations in LPL can impair triglyceride breakdown and contribute to familial chylomicronaemia type I and high triglyceride. LTBP2 (Latent TGF-β Binding Protein 2): This gene encodes a protein called latent TGF-β binding protein 2 (LTBP2). LTBP2 helps store and regulate the activity of transforming growth factor-β (TGF-β), a signalling molecule involved in various cellular processes, including cell growth, differentiation, and development. Mutations in LTBP2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MAP2K1 & MAP2K2 (Mitogen-Activated Protein Kinase 1 & 2): These genes encode proteins called MAP2K1 (also known as MEK1) and MAP2K2 (also known as MEK2). They are part of the MAP kinase signalling pathway, a critical pathway involved in various cellular processes, including cell growth, proliferation, differentiation, and survival. Mutations in MAP2K1 or MAP2K2 can disrupt this pathway and contribute to various cancers, although the specific role of these mutations in cancer development is still being investigated. MIB1 (Mind Bomb Homolog 1): This gene encodes a protein involved in endocytosis, the process by which cells take up substances from the outside. Mutations in MIB1 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MURC (Muclin 1): This gene encodes a protein called muclin 1, which is found in the endoplasmic reticulum (ER), a cellular compartment involved in protein folding and quality control. Muclin 1 interacts with other proteins and may play a role in protein folding and trafficking within the ER. Mutations in MURC can disrupt ER function and contribute to a rare genetic disorder called Schimke immunoosseous dysplasia type 1 (SIOD1), characterized by bone problems, stunted growth, and kidney abnormalities. MYBPC3 (Myosin Binding Protein C, Fast Skeletal Muscle): This gene encodes a protein called myosin binding protein C (MyBPC3), which is found in fast-twitch skeletal muscle fibres. MyBPC3 helps stabilize the thick filaments within muscle sarcomeres (contractile units) and regulates muscle contraction. Mutations in MYBPC3 can disrupt muscle function and contribute to various skeletal muscle disorders, including hypertrophic cardiomyopathy (HCM), and distal myopathy with rimmed vacuoles (DMRV). MYH11 (Myosin Heavy Chain 11, Skeletal Muscle, Fast Twitch Fibers): This gene encodes a protein called myosin heavy chain 11 (MYH11), which is the major component of the thick filaments within fast-twitch skeletal muscle fibres. MYH11 plays a crucial role in muscle contraction. Mutations in MYH11 can disrupt muscle function and contribute to various skeletal muscle disorders. MYH6 (Myosin Heavy Chain 6, Cardiac Muscle): This gene encodes a protein called myosin heavy chain 6 (MYH6), the major component of the thick filaments within cardiac muscle cells. MYH6 plays a crucial role in heart contraction. Mutations in MYH6 can disrupt heart function and contribute to various cardiomyopathies. MYH7 (Myosin Heavy Chain 7, Cardiac Muscle): This gene encodes a protein called myosin heavy chain 7 (MYH7), another component of the thick filaments within cardiac muscle cells. MYH7 works alongside MYH6 (discussed previously) for proper heart contraction. Mutations in MYH7 can disrupt heart function and contribute to various cardiomyopathies. MYL2 (Myosin Light Chain 2, Regulatory, Smooth Muscle): This gene encodes a protein called myosin light chain 2 (MYL2), which is found in smooth muscle tissues (muscles lining various organs). MYL2 regulates muscle contraction in smooth muscle by interacting with myosin and other proteins. Mutations in MYL2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MYL3 (Myosin Light Chain 3, Regulatory, Skeletal Muscle, Fast Twitch Fibers): This gene encodes a protein called myosin light chain 3 (MYL3), which is found in fast-twitch skeletal muscle fibres. MYL3, like MYL2, regulates muscle contraction by interacting with myosin and other proteins. Mutations in MYL3 can disrupt muscle function and contribute to various skeletal muscle disorders MYLK (Myosin Light Chain Kinase): This gene encodes a protein called myosin light chain kinase (MYLK). MYLK phosphorylates (adds a phosphate group) MYL2 and other myosin light chain isoforms, which is a critical step for regulating muscle contraction in both smooth and skeletal muscle. Mutations in MYLK are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MYLK2 (Myosin Light Chain Kinase 2): This gene encodes another protein called myosin light chain kinase 2 (MYLK2). MYLK2 is similar to MYLK but has a more restricted expression pattern. Mutations in MYLK2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MYO6 (Myosin VI): This gene encodes a protein called myosin VI, an unconventional myosin motor protein. Unlike the myosin-heavy chains discussed previously, myosin VI does not directly participate in muscle contraction. Instead, it plays a role in various cellular processes, including intracellular trafficking and organelle movement. Mutations in MYO6 can disrupt these processes and contribute to a rare autosomal recessive disorder called deafness-ocular albinism-ocular motor apraxia (DOA), characterized by hearing loss, albinism (reduced pigment production), and problems with eye movement. MYOZ2 (Myozenin 2): This gene encodes a protein called myozenin 2, a transcription factor involved in muscle development and regeneration. Myozenin 2 regulates the expression of other genes essential for muscle function. Mutations in MYOZ2 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. MYPN (Myopalladin): This gene encodes a protein called myopalladin, which is found in Z-discs, structures within muscle sarcomeres that anchor thin filaments. Myopalladin plays a role in maintaining sarcomere structure and function. Mutations in MYPN can disrupt sarcomere integrity and contribute to various skeletal muscle disorders, NEXN (Nexilin): This gene encodes a protein called nexilin, which is found in the extracellular matrix surrounding muscle cells. Nexilin interacts with other proteins and may play a role in cell adhesion and signalling in muscle development and function. Mutations in NEXN are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. NKX2-5 (Sodium/Potassium-Exchanging Neurotrophic Factor 2.5): This gene encodes a protein called NKX2-5, a transcription factor essential for the development and function of specific types of neurons in the lungs and the brainstem. NKX2-5 regulates the expression of other genes involved in lung development and the control of breathing. Mutations in NKX2-5 can disrupt these processes and contribute to various conditions, including congenital lung malformations: congenital central hypoventilation syndrome (CCHS) NODAL (Nodal Disinhibitor): This gene encodes a protein called Nodal, a signalling molecule crucial for embryonic development, particularly body axis formation (left-right asymmetry) and organ development. Nodal plays a vital role in the "Nodal signalling pathway," which guides cell fate determination and patterning during early embryogenesis. Mutations in NODAL can disrupt this pathway and cause various birth defects NOTCH1 (Notch Signalling Pathway Receptor 1): This gene encodes a protein called Notch1, a cell-surface receptor involved in the Notch signalling pathway. This pathway is critical for various developmental processes, including cell fate determination, differentiation, proliferation, and survival. Notch1 receives signals from neighbouring cells and triggers a cascade of events within the cell, influencing its behaviour. Mutations in NOTCH1 can disrupt this pathway and contribute to various developmental disorders such as, Alagille syndrome and Adams-Oliver syndrome. NPPA (Natriuretic Peptide A): This gene encodes a protein called atrial natriuretic peptide (ANP), also known as natriuretic peptide A (NPPA). ANP is a hormone produced by the heart in response to high blood pressure or blood volume. ANP acts on the kidneys to increase sodium and water excretion, ultimately helping to lower blood pressure. Mutations in NPPA can disrupt ANP production and contribute to heart failure or hypertension. NRAS (NRAS Proto-Oncogene, GTPase): We previously discussed HRAS and KRAS. Here's a recap for NRAS: This gene encodes a protein called NRAS, another member of the RAS protein family involved in various cellular processes, including cell growth, proliferation, and differentiation. Mutations in NRAS are less common than HRAS or KRAS mutations but can also contribute to various cancers PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9): This gene encodes a protein called PCSK9, which plays a role in regulating cholesterol levels. PCSK9 targets LDL receptors for degradation, leading to a decrease in LDL receptor levels on liver cells. Consequently, less LDL cholesterol is removed from the bloodstream. Mutations in PCSK9 can affect its function in various ways. Some mutations can lead to increased PCSK9 activity, further lowering LDL receptor levels and causing familial hypercholesterolemia (high LDL cholesterol). Conversely, other mutations can inactivate PCSK9, leading to higher LDL receptor levels and lower LDL cholesterol levels. PDLIM3 (PDZ Lim Domain 3): This gene encodes a protein called PDLIM3, which interacts with other proteins involved in various cellular processes, including cell adhesion, migration, and signalling. Mutations in PDLIM3 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. PKP2 (Plakophilin 2): This gene encodes a protein called plakophilin 2, which is found in desmosomes, structures that mediate cell-cell adhesion in epithelial tissues. Plakophilin 2 interacts with other desmosomal proteins and helps maintain the integrity of these adhesion points. Mutations in PKP2 can disrupt desmosomal function and contribute to a skin blistering disorder called epidermolysis bullosa simplex (EBS). PLN (Phospholamban): This gene encodes a protein called phospholamban (PLN), which is located on the sarcoplasmic reticulum (SR) in cardiac muscle cells. The SR stores calcium ions (Ca2+) and releases them upon stimulation, triggering muscle contraction. PLN acts as a regulator of the SR Ca2+-ATPase pump, which pumps Ca2+ back into the SR after a contraction. RDM16 (PR Domain Containing 16): This gene encodes a protein with a PR domain, which is a protein interaction motif. PRDM16 is thought to be involved in gene regulation, but its specific function is not fully understood. Mutations in PRDM16 have been associated with cardiomyopathy. PRKAG2 (Protein Kinase AMP-Activated Catalytic Subunit Alpha 2): This gene encodes a subunit of an enzyme called AMP-activated protein kinase (AMPK). AMPK is a critical cellular energy sensor that regulates various metabolic processes in response to changes in cellular energy levels. PRKAG2 specifically encodes the catalytic alpha-2 subunit of AMPK. PRKAR1A (Protein Kinase A Regulatory Subunit 1A): This gene encodes a regulatory subunit of protein kinase A (PKA), a signalling enzyme involved in various cellular processes, including metabolism, cell growth, and survival. PRKAR1A specifically encodes the regulatory subunit type 1A of PKA. Mutations in PRKAR1A can disrupt PKA function and contribute to carney syndrome. PTPN11 (Protein Tyrosine Phosphatase, Non-Receptor Type 11): This gene encodes a protein called SHP-2, a type of protein tyrosine phosphatase. These enzymes remove phosphate groups from tyrosine residues on other proteins, which can act as a regulatory switch for various cellular processes. SHP-2 plays a role in cell signalling, particularly in the immune system. RAF1 (RAF Proto-Oncogene Serine/Threonine Kinase 1): This gene encodes a protein called RAF1, which is a kinase involved in the RAS-MAP kinase signalling pathway. This pathway plays a crucial role in cell growth, proliferation, and differentiation. Mutations in RAF1 can activate this pathway inappropriately, potentially leading to uncontrolled cell growth and contributing to various cancers. RANGRF (RANBP1 family, member G F): This gene encodes a protein that interacts with another protein called RanBP1. RanBP1 is involved in various cellular processes, including nuclear import and export of proteins. Mutations in RANGRF are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. RBM20 (RNA Binding Motif Protein 20): This gene encodes a protein that binds to RNA (ribonucleic acid). RBM20 may play a role in various aspects of RNA processing, but its specific function is not fully understood. RYR1 (Ryanodine Receptor 1): This gene encodes a protein called ryanodine receptor 1 (RyR1), a calcium (Ca2+) channel located on the sarcoplasmic reticulum (SR) in skeletal muscle cells. The SR stores Ca2+ and releases it upon stimulation, triggering muscle contraction. RyR1 plays a critical role in this process by allowing Ca2+ release from the SR in response to electrical signals. RYR2 (Ryanodine Receptor 2): This gene encodes a protein called ryanodine receptor 2 (RyR2), which is similar to RyR1 but is located on the SR in cardiac muscle cells. RyR2 plays a crucial role in regulating Ca2+ release for heart muscle contraction. Mutations in RYR2 can disrupt heart function and contribute to various cardiomyopathies. SALL4 (Sal-Like 4 (Drosophila)): This gene encodes a protein called SALL4, which is a transcription factor involved in embryonic development, particularly limb and kidney development. SALL4 regulates the expression of other genes essential for these processes. SCN1B to SCN5A (Sodium Voltage-Gated Channel Beta Subunits 1-5): These genes (SCN1B, SCN2B, SCN3B, SCN4B, SCN5A) encode proteins called sodium voltage-gated channel beta subunits 1 to 5, respectively. These are accessory subunits that regulate the function of voltage-gated sodium channels. Sodium channels are essential for nerve impulse transmission. The beta subunits modulate the properties of these channels, such as voltage sensitivity and activation/inactivation kinetics. Mutations in these genes can disrupt sodium channel function and contribute to various neurological disorders. SCN2B, SCN3B, SCN4B: As described previously, these genes (SCN1B was discussed earlier) encode proteins called sodium voltage-gated channel beta subunits 2, 3, and 4, respectively. These are accessory subunits that regulate the function of voltage-gated sodium channels in nerves. Mutations in these genes can disrupt nerve impulse transmission and contribute to various neurological disorders like episodic ataxia, generalized epilepsy with febrile seizures plus (GEFS+), and paroxysmal kinesigenic dyskinesia (PKD). SCO2 (Succinate-CoA Ligase, Subunit Beta, Mitochondrial): This gene encodes a protein involved in the mitochondrial electron transport chain, a series of protein complexes responsible for cellular energy production (ATP). While SCO2 dysfunction can disrupt energy production, its role as a definitive biomarker in specific diseases is not yet fully established. More research is needed to determine its utility in clinical settings. SDHA (Succinate Dehydrogenase Complex, Subunit A, Flavoprotein): Similar to SCO2, SDHA encodes a protein involved in the mitochondrial electron transport chain. Mutations in SDHA can cause Leigh syndrome, a severe mitochondrial disease affecting the nervous system and other organs. However, SDHA itself may not be a widely used standalone biomarker, but rather its activity or protein levels might be measured in the context of diagnosing mitochondrial diseases. SEPN1 (Selenoprotein N1, Selenoprotein Disulfide Isomerase): This gene encodes a protein with enzymatic activity that plays a role in protein folding and reducing disulfide bonds. SEPN1 mutations are associated with a rare autosomal recessive disorder called metaphyseal chondrodysplasia type Jansen (MCJ), characterized by skeletal abnormalities. The role of SEPN1 as a biomarker for MCJ or other conditions is still under investigation. SGCB, SGCD, SGCG (Secreted Granule Chromogranin B, C, and D): These genes encode proteins called chromogranin’s, which are found in neuroendocrine secretory granules. While chromogranin’s may be used as tumour markers in some neuroendocrine cancers, specifically elevated levels of chromogranin A (encoded by a different gene, CHGA) are more commonly used. The specific roles of SGCB, SGCD, and SGCG as established biomarkers require further investigation. SHOC2 (SHOC2 Scaffold Protein): This gene encodes a protein involved in actin cytoskeleton organization and cell signalling. Mutations in SHOC2 have been linked to susceptibility to infections and inflammatory bowel disease (IBD). However, SHOC2 itself may not be a direct biomarker for these conditions, but rather its role in cellular processes might be relevant for understanding disease mechanisms. SLC25A4 (Solute Carrier Family 25 Member 4): This gene encodes a protein involved in transporting mitochondrial substrates across the mitochondrial membrane. Mutations in SLC2A4 can disrupt mitochondrial function and contribute to Leigh syndrome, a severe mitochondrial disease affecting the nervous system and other organs. In this context, mitochondrial function tests (measuring cellular respiration or specific metabolite levels) might be used as biomarkers to assess SLC2A4 dysfunction. SLC2A10 (Solute Carrier Family 2 Member 10): This gene encodes a protein that transports glucose across cell membranes. Mutations in SLC2A10 can disrupt glucose uptake and contribute to rare forms of diabetes. While SLC2A10 itself might not be a direct biomarker, blood glucose levels, and glucose tolerance tests remain the primary methods for diagnosing diabetes. SMAD3 & SMAD4 (Mothers Against Decapentaplegic Homolog 3 & 4): These genes encode proteins involved in the transforming growth factor-β (TGF-β) signalling pathway, which plays a role in various cellular processes, including cell growth, differentiation, and development. While not directly biomarkers themselves, abnormal activation or disruption of the TGF-β pathway can be implicated in various cancers. Researchers are investigating the potential of measuring SMAD3/4 phosphorylation or expression levels as biomarkers for the diagnosis or prognosis of certain cancers. SNTA1 (Syntaphilin 1): This gene encodes a protein involved in the regulation of neurotransmitter release at synapses in the nervous system. Abnormal SNTA1 function has been linked to neurodegenerative diseases like Alzheimer's disease and Parkinson's disease. Research is ongoing to explore the potential of measuring SNTA1 protein levels in cerebrospinal fluid (CSF) or brain imaging techniques as biomarkers for these diseases. SOS1 (Son of Sevenless Homolog 1): This gene encodes a protein involved in the RAS-MAP kinase signalling pathway, which plays a crucial role in cell growth, proliferation, and differentiation. Mutations in SOS1 are rare, but they have been linked to some cancers. Similar to SMAD3/4, researchers are investigating the potential of measuring SOS1 activity or expression levels as biomarkers for specific cancers. SREBF2 (Sterol Regulatory Element Binding Protein 2): This gene encodes a transcription factor involved in regulating cholesterol and fatty acid metabolism. SREBF2 activity plays a role in maintaining cholesterol homeostasis. While SREBF2 itself might not be a direct biomarker, blood cholesterol levels and the ratio of different cholesterol types (LDL, HDL) are established biomarkers for assessing cardiovascular disease risk. TAZ (Transcriptional Coactivator with PDZ-Binding Motif): TAZ is a protein involved in cell proliferation, differentiation, and migration. While not a direct biomarker, TAZ activity and interaction with other proteins in specific signalling pathways might be relevant for understanding cancer development and progression. Researchers are exploring the potential role of TAZ in the context of cancer diagnosis or prognosis . TBX20, TBX3 & TBX5 (T-Box Transcription Factors 20, 3 & 5): These genes encode transcription factors involved in the development of various tissues, particularly skeletal structures and the heart. Mutations in these genes can disrupt development and contribute to specific malformation syndromes. In some cases, imaging techniques like X-rays or echocardiograms can be used to identify characteristic skeletal or cardiac abnormalities associated with TBX mutations. Additionally, genetic testing for mutations in these genes can be used for diagnosis. TCAP (Telethonin Cap-Binding Protein): This gene encodes a protein called telethonin cap-binding protein (TCAP). TCAP plays a role in regulating the translation of mRNA (messenger RNA) into proteins. Mutations in TCAP can disrupt protein synthesis and contribute to a rare genetic disorder called limb-girdle muscular dystrophy type 1A (LGMD1A), TGFB2 & TGFB3 (Transforming Growth Factor Beta 2 & 3): These genes encode proteins called transforming growth factor beta 2 (TGF-β2) and transforming growth factor beta 3 (TGF-β3), respectively. TGF-β proteins are signalling molecules involved in various cellular processes, including cell growth, differentiation, development, and wound healing. They exert their effects by binding to specific receptors and activating downstream signalling pathways. While not directly considered biomarkers themselves, abnormal TGF-β signalling can be implicated in various conditions, including fibrosis (excessive scar tissue formation) and certain cancers. Researchers are investigating the role of TGF-β signalling in different diseases. TGFBR1 & TGFBR2 (Transforming Growth Factor Beta Receptor 1 & 2): These genes encode proteins called transforming growth factor beta receptor 1 (TGFBR1) and transforming growth factor beta receptor 2 (TGFBR2), respectively. These receptors bind to TGF-β proteins (like TGF-β2 and TGF-β3 mentioned above) and initiate downstream signalling pathways. Mutations in TGFBR1 or TGFBR2 can disrupt TGF-β signalling and contribute to various conditions, including Marfan syndrome and Loeys-Dietz syndrome. TMEM43 (Transmembrane Protein 43): This gene encodes a protein with unknown function located in the endoplasmic reticulum (ER) membrane. The ER is a cellular compartment involved in protein folding and quality control. Mutations in TMEM43 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. TMPO (Thymopoietin): This gene encodes a protein called thymopoietin, which is involved in the development and function of T-lymphocytes (T cells), a critical component of the immune system. Thymopoietin may play a role in T cell maturation and proliferation. Mutations in TMPO are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific immune deficiencies. TNNC1 (Troponin C, Slow Skeletal Muscle): This gene encodes a protein called troponin C, specifically the slow skeletal muscle isoform (TNNC1). Troponin C is a key component of the troponin complex in muscle sarcomeres (contractile units). It plays a crucial role in regulating muscle contraction by interacting with other troponin subunits and calcium ions. Mutations in TNNC1 can disrupt muscle function and contribute to various skeletal muscle disorders. TNNT2 (Troponin T, Fast Skeletal Muscle): This gene encodes a protein called troponin T, specifically the fast skeletal muscle isoform (TNNT2). Troponin T is another component of the troponin complex and interacts with troponin C and troponin I to regulate muscle contraction in fast-twitch skeletal muscle fibres. Mutations in TNNT2 can disrupt muscle function and contribute to various skeletal muscle disorders 2. TPM1 (Tropomyosin 1, Alpha): this gene encodes a protein called tropomyosin 1, an alpha isoform found in striated muscles (skeletal and cardiac muscles). Tropomyosin is another component of the thin filament within muscle sarcomeres. It interacts with troponin and actin filaments to regulate muscle contraction. Mutations in TPM1 can disrupt muscle function and contribute to various skeletal muscle disorders. TRDN (Triadin): This gene encodes a protein called triadin, which is located in the sarcoplasmic reticulum (SR) membrane in skeletal muscle cells. The SR stores calcium ions (Ca2+) and releases them upon stimulation, triggering muscle contraction. Triadin interacts with other proteins to regulate Ca2+ release from the SR. Mutations in TRDN are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. TRIM63 (Tripartite Motif Containing 63): This gene encodes a protein with an E3 ubiquitin ligase domain. E3 ubiquitin ligases are enzymes that target other proteins for degradation by attaching a small protein called ubiquitin. TRIM63 is involved in various cellular processes, including protein turnover and immune response. Mutations in TRIM63 are rare, and their impact on health is not fully understood. More research is needed to determine if they contribute to any specific diseases. TRPM4 (Transient Receptor Potential Melastatin 4): This gene encodes a protein called TRPM4, a member of the transient receptor potential (TRP) channel family. TRP channels are ion channels located in the cell membrane that allow the passage of specific ions. TRPM4 is involved in various processes, including calcium signaling and sensory perception, particularly taste perception. Mutations in TRPM4 can disrupt these processes and contribute to various health conditions. TTN (Titin): This gene encodes the largest protein found in humans, called titin. Titin is a giant sarcomeric protein that spans the entire length of a sarcomere in striated muscles. It plays a crucial role in maintaining muscle structure and elasticity and also contributes to force generation during muscle contraction. Mutations in TTN are very common, but most are not associated with any health problems. However, some specific mutations in TTN can increase the risk of developing Dilated cardiomyopathy (DCM) and various skeletal muscle disorders. TTR (Transthyretin): This gene encodes a protein called transthyretin (TTR), which is a transport protein produced by the liver. TTR transports thyroxine (T4) and retinol-binding protein (RBP) in the bloodstream. Mutations in TTR can cause the protein to misfold and accumulate in various tissues, leading to Hereditary transthyretin amyloidosis (hATTR). TXNRD2 (Thioredoxin Reductase 2, Mitochondrial): This gene encodes an enzyme called thioredoxin reductase 2, which is located in the mitochondria. Mitochondria are the cell's powerhouses, and this enzyme plays a role in protecting cells from oxidative stress. Mutations in TXNRD2 can disrupt mitochondrial function and contribute to various conditions, including Mitochondrial diseases. VCL (Vinculin): This gene encodes a protein called vinculin, which is a key component of cell adhesion complexes. These complexes connect the intracellular actin cytoskeleton to the extracellular matrix (ECM), providing structural support and allowing cells to interact with their environment. ZBTB17 (Zinc Finger and BTB Domain Containing 17): This gene encodes a protein with a zinc finger domain and a BTB domain. Zinc finger proteins bind to specific DNA sequences, while BTB domains are involved in protein-protein interactions. The specific function of ZBTB17 is not fully understood, but it is thought to be involved in gene regulatio ZHX3 (Zinc Finger and Homeobox Domain 3): This gene encodes a protein with a zinc finger domain and a homeobox domain. Like ZBTB17, zinc finger domains bind to DNA, and homeobox domains are involved in regulating gene expression during development. ZHX3 is thought to be a transcription factor that controls the expression of other genes involved in embryonic development and organ formation. Mutations in ZHX3 are rare, and their impact on health is not fully understood. ZIC3 (Zinc Finger Protein of the Subfamily 1, Krüppel-Like Factor 3): This gene encodes a protein called ZIC3, a member of the Krüppel-like factor (KLF) family. KLFs are transcription factors that regulate the expression of other genes involved in various cellular processes, including development, differentiation, and cell proliferation. ZIC3 is specifically expressed in the developing nervous system and is thought to play a role in neuronal development and differentiation. Estimated Turnaround times: 6 Weeks Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.

£599 < Back Genetic Bowel Cancer £599 Description: A genetic bowel cancer risk test analyses your DNA to assess your likelihood of inheriting a genetic condition that significantly increases your risk of developing bowel cancer. It is used to Identify individuals with a higher chance of developing bowel cancer due to specific inherited gene mutations. Early detection allows for more intensive screening and potentially preventive measures to reduce the risk. Gene List: Adenomatous Polyposis Coli Gene (APC) - Plays a critical role in regulating cell growth and preventing uncontrolled cell division. Epithelial Cell Adhesion Molecule (EPCAM) - Codes for a protein critical in various cellular functions, particularly in epithelial cells lining our organs and body surfaces. MLH1 - The MHL1 gene, short for MutL Homolog 1, is a crucial player in maintaining genomic stability within cells. MSH2 - short for MutS Homolog 2, is a vital component of the DNA mismatch repair (MMR) system within cells. MMR acts as a cellular quality control process, ensuring the accuracy of our genetic information during cell division. MSH6 - The MSH6 gene, standing for MutS Homolog 6, is an essential player in a cellular process called DNA mismatch repair (MMR). MMR acts like a meticulous proof-reader, ensuring the accuracy of our genetic information during cell division. MUTYH - MUTYH gene provides instructions for making an enzyme called MYH glycosylase, which plays a crucial role in DNA repair. Mutations in this gene can lead to a condition called MUTYH-associated polyposis (MAP). PMS2 - The PMS2 gene, also known as PMS1 Homolog 2, is a critical player in a cellular process called mismatch repair (MMR). MMR acts like a quality control check, ensuring the accuracy of our genetic information during cell division. PTEN - The PTEN gene, which stands for phosphatase and tension homolog, plays a critical role in regulating cell growth and division. It acts as a tumour suppressor gene, meaning it helps prevent cells from multiplying uncontrollably and forming tumours. SMAD4 - SMAD4, short for SMAD family member 4, is a protein encoded by the SMAD4 gene. It's a critical player in a signalling pathway called the transforming growth factor-beta (TGF-β) pathway, which regulates various cellular processes like growth, differentiation (specialization), and cell death. STK11 - The STK11 gene, also known as LKB1 (liver kinase B1), plays a vital role in regulating cell growth, polarity (orientation within tissues), and metabolism. It functions as a tumour suppressor gene, acting as a safeguard against uncontrolled cell division and cancer development. Estimated Turnaround times: 6 Weeks Note: This service is only available to the age of 13 and above. During booking, only a £30 deposit is required , which will be deducted from the total cost. The remaining payment will be collected at a later stage. Any cancellation, rescheduling, or missed appointment within 48 hours of the scheduled time will result in the loss of the £30 deposit. If you wish to reschedule, a new £30 deposit will be required to secure the new appointment.