Search Results

£349 Serum Free Light Chains (Kappa and Lambda) £349 < Back Serum Free Light Chains (Kappa and Lambda) This blood test looks at the ratio of kappa and Lambda free light chains, this can be linked to diagnosis or monitoring myeloma. Biomarkers: Serum Free Light Chains (Kappa and Lambda) Estimated turnaround time: 2-5 Working 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.

£199 Serum Free Light Chains (Lambda) £199 < Back Serum Free Light Chains (Lambda) This blood test looks at Lambda free light chains, this can be linked to diagnosis or monitoring myeloma. Biomarkers: Serum Free Light Chains (Lambda) Estimated turnaround time: 2-5 Working 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.

Experience professional and comfortable blood draws with our phlebotomy services. Skilled technicians ensure a smooth and efficient process. Book your phlebotomy appointment today for top-notch care. < Back Phlebotomy with Centrifugation £49 Phlebotomy with Centrifugation Phlebotomy is the process of using a needle to draw blood from a vein, usually in your arm. It's a common procedure performed for various reasons, including: Diagnostic testing: Blood tests are used to diagnose a wide range of medical conditions by analyzing the components in your blood. Monitoring existing conditions: Regular blood tests can help monitor existing medical conditions like diabetes or high blood pressure. Blood transfusions: Blood is drawn from donors and used in transfusions for people who need blood replacements due to accidents, surgeries, or illnesses. Therapeutic phlebotomy: In some cases, removing blood itself can be a treatment. This is used for certain blood disorders like hemochromatosis (excess iron in the blood). This appointment includes centrifuging, this is a process used to separate different components of the blood sample. Blood samples take 15-20 minutes to be centrifuged. 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.

Private prescribing consultations in Swindon at Epicare Health. Speak with experienced prescribing pharmacists for minor illnesses, diagnosis, and medication. Book now! Private Prescribing Consultation We offer a convenient private prescribing service for a wide range of minor illnesses. Our two experienced prescribing pharmacists can assess your condition, diagnose the cause, and prescribe the most appropriate medication. Private Prescribing Book now

£79 Triiodothyronine (T3) £79 < Back Triiodothyronine (T3) This is a custom blood test for Triiodothyronine (T3). Biomarkers: Triiodothyronine (T3) Estimated turnaround time: 2-5 Working 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.

£139 Hormonal Health £139 < Back Hormonal Health A hormonal health blood test is a diagnostic tool used to measure the levels of various hormones in your body. Hormones are chemical messengers produced by glands that regulate numerous bodily functions, including growth, metabolism, mood, and reproduction. Biomarkers: Oestradiol is a form of oestrogen, and the main female hormone produced by non-pregnant women. The hormone has an important role in the development of female physical features and reproductive functions. Oestradiol tests are used for the evaluation of ovarian functions. It can also be used to diagnose the cause of precocious and delayed puberty in girls as well as used to monitor hormone replacement therapy in peri-pausal and menopausal women. Follicular Stimulating Hormone (FSH) a reproductive hormone that is produced by the pituitary gland in the brain. FSH stimulates the growth and development of unfertilised eggs during the menstrual cycle in women and initiates the production of sex hormones such as oestradiol and progesterone. FSH is also used to stimulate the production of sperm in men. The FSH hormone is often tested with other sex hormones such as LH, testosterone, oestradiol and progesterone for diagnose infertility and pituitary gland disorders in men and women. Luteinizing Hormone (LH) is a reproductive hormone that is produced by the pituitary gland in the brain. This hormone is used to regulate the menstrual cycle and ovulation by stimulating the ovaries to produce other reproductive hormones in females whereas in men, LH stimulates and controls testosterone. The LH test is used to determine any reproductive problems. Progesterone plays an important role in preparing a female body for pregnancy. This test can help to assess if a woman is ovulating normally and should be done on day 21 into a cycle. Prolactin is a hormone produced by the pituitary glands in the brain. The main role of prolactin is to promote lactation (breast milk production) in women during pregnancy and after childbirth. A prolactin test is used to diagnose infertility in both men and women as well as menstrual problems and erectile dysfunction. Testosterone is a steroid hormone produced by the male testes and the adrenal glands in both men and women. This hormone production is stimulated and controlled by the luteinizing hormone. Testosterone is seen in large amounts in boys during puberty, causing growth of body hair and muscle development. It also regulates the male sex drive and maintain muscle mass. It is found in small amount in females from the ovary. Testosterone test is used to diagnosed various conditions such as erectile dysfunction and infertility in men. Sex Hormone Binding Globulin (SHBG) is a protein produced by the liver. Its main function is to bind and transport the hormones oestradiol, testosterone and dihydrotestosterone in the blood. The SHBG test is used to diagnose testosterone deficiency in men and is used to investigate the production of testosterone in women. The Free Androgen Index (FAI) is a calculated value used to assess the level of active androgens (male hormones) in the body. It's particularly useful for diagnosing conditions related to androgen excess, such as Polycystic Ovary Syndrome (PCOS) in women. Estimated turnaround time: 2-5 Working 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 Tetanus Antibody £149 < Back Tetanus Antibody This test checks for antibodies against the tetanus bacteria, helping to estimate your level of immunity and whether you may need a booster vaccination. Biomarkers: Tetanus Antibodies Estimated turnaround time: 5 - 7 Working 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.

£109 Premier Health Profile £109 < Back Premier Health Profile What can I expect from this Premier Health Profile? This profile is a comprehensive check of your liver & kidney function, your muscle & bone health, gout, iron levels, diabetes (HbA1c), your full cholesterol profile and full blood count. This detailed profile provides an excellent baseline health check. It helps you proactively manage your health and identify/ monitor many underlying or pre-existing conditions throughout your body. Biomarkers: Blood Cells: Full Blood Count (FBC) provides information about the different cells in the blood, these include the red blood cells, white blood cells and platelets. Red blood cells contain haemoglobin which carries oxygen to the different tissues in the body whereas white blood cells control the immune system and protects the body from foreign invaders such as bacteria and viruses. FBC testing are used as a screening test for various disorders like anaemia and infections. Cholesterol: Total Cholesterol is a measurement of the total amount of cholesterol in the blood. This includes low-density and high-density lipoprotein cholesterols. Cholesterol is used to produce hormones for development, growth and reproduction. High Density Lipoprotein (HDL) is a form of cholesterol which is considered ‘good’ cholesterol because it helps remove cholesterol from the heart’s arteries. Low Density Lipoprotein (LDL) is considered ‘bad’ cholesterol because it contributes to cholesterol build-up and blockage in the arteries. Total Cholesterol: HDL Ratio is a mathematical calculation which indicates the ratio of total cholesterol versus ‘good’ (HDL) cholesterol in the blood. Non-HDL Cholesterol is a measurement of the total amount of cholesterol in the blood excluding the ‘good’ high-density lipoprotein cholesterol (HDL). Triglyceride is another type of fat (not the same as cholesterol) found in the bloodstream. HDL percentage. This is the percentage of Total Cholesterol that consists of ‘good’ (HDL) cholesterol. Diabetes: Haemoglobin A1c (HbA1c) test is used to measure the average level of blood sugar over the past two to three months and is commonly used to diagnose and monitor diabetes. The sugar is called glucose which builds up in the blood and binds to the haemoglobin in the red blood cells. Gout (1 Biomarkers) Urate (Uric Acid) is a product of the breakdown of purines from substances such as DNA or from digesting certain food and drinks like alcoholic beverages. It is removed by the kidneys and excreted in the urine or in the stools. Urate tests are used to detect gout and diagnose the cause of recurring kidney stones formation. Iron Studies: Iron is a mineral which is needed for making red blood cells, which transports oxygen in the blood, and is important for healthy muscles, bone marrow and organ function. Iron is measured to show the amount of iron in the blood. Low levels of iron can indicate anaemia whereas high levels can indicate liver disease. Total Iron Binding Concentration (TIBC) is the maximum amount of iron that can be transported in the blood. Iron is used for the transportation of oxygen in the blood. TIBC tests are used to determine iron status and its absorption. This can be used to help diagnose Anaemia and iron overload conditions such as Haemochromatosis. Your TIBC will be impaired if you also have existing liver disease. Unsaturated Iron Binding Concentration (UIBC) is the amount of transferrin that is reserved for the iron transportation. Iron is used for the transportation of oxygen in the blood. UIBC tests are used to monitor treatment for iron toxicity. Transferrin is an iron-binding glycoprotein that is produced by the liver. It is used to transport iron which transports oxygen in the blood. Transferrin tests are used to determine iron status and can be used to diagnose anaemia. Transferrin saturation is the value of serum iron divided by the total iron-binding capacity of the available transferrin. Kidney Function: Urea is a waste product of the amino acids found in proteins. It is released into the bloodstream and the kidney filters urea out of the blood and excretes it in the urine. Urea tests are used to show how well the kidneys are working as well as an indicator for diseases affecting the kidneys and liver. Creatinine is a waste product produced by the muscles during contraction. It can be found in the blood and urine as it is excreted by the kidneys. Creatinine tests are used as an indicator of whether the kidneys are working normally. Glomerular Filtration Rate (GFR) is a measurement of glomerular function. Glomeruli are the filters in the kidney used to filter waste products from the blood. GFR tests are used to detect and monitor changes in the kidney status. Liver Function: Albumin is a protein specifically produced in the liver. Its function consists of keeping fluids in the bloodstream as well as transporting substances like hormones and vitamins throughout the body. Albumin tests can be used to help diagnose and monitor diseases of the liver and kidney. Globulin is a protein produced in the liver by the immune system. It is important in liver function, blood clotting and fighting infections. Globulin tests can be used to diagnose conditions including liver damage or disease, kidney disease and autoimmune disorders. Total Protein is the total amount of two proteins found in the serum of the blood, these are albumin and globulin. Albumin is needed to keep fluid in the bloodstream whereas globulin is an essential part of the immune system. Total protein tests are used as an indicator to there being a problem with albumin or globulin levels. Alkaline Phosphate (ALP) is an enzyme found mostly in the liver and bone. ALP tests can be used to diagnose liver or bone disease. Alanine Transaminase (ALT) is an enzyme which can be found mostly in the liver and in small amounts in the heart, kidneys and the skeletal muscle. It is released into the bloodstream during an injury to the heart, liver, kidney and skeletal muscle. ALT tests can be used to diagnose liver disease. Aspartate Aminotransferase (AST) is an enzyme produced by the liver. It is released into the bloodstream during an injury of the heart, liver and skeletal muscle. AST tests can be used to detect liver disease. Gamma Glutamyl Transferase (GGT) is an enzyme mostly found in the liver and is also present in the gallbladder, spleen, pancreas and kidney. It is a significant enzyme used in the liver metabolism of drugs and other toxins. GGT tests can be used to detect liver disease and bile duct injury. Total Bilirubin is a test which measures the amount of bilirubin in the blood. Bilirubin can be found in bile to help digest food. It is also produced from broken down haem, which is old red blood cells that used to carry oxygen around the body. Total bilirubin tests can be used to diagnose and monitor liver diseases and certain types of anaemia. Muscle & Bone Health: Creatine Kinase is an enzyme which is found in the skeletal and heart muscle as well as a small amount in the brain tissue. Creatine kinase test can be used to diagnose and monitor muscular injuries and diseases such as muscular dystrophy. Calcium is an important mineral which is found in the bones as well as circulating in the blood. It has a range of functions and is essential in bone formation and blood clotting. In the blood, calcium can either be free and active or they can be bound to proteins like albumin. Calcium tests are used to diagnose and monitor different conditions correlating to the bone, heart and kidneys. Adjusted Calcium is also known as the corrected calcium, calcium is an important mineral needed for body function. This is a calculation which uses the measurement of the protein albumin to calculate how much calcium are free in the blood. Calcium tests are used to diagnose and monitor different conditions correlating to the bone, heart and kidneys. Estimated turnaround time: 2-5 Working 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.

£129 BNP (NT-pro BNP) £129 < Back BNP (NT-pro BNP) BNP (NT-pro BNP) can help detect the risk of heart failure. High levels of BNP (NT-pro BNP) indicate the heart is having to work too hard to pump blood around the body. Biomarkers: BNP (NT-pr BNP) Estimated turnaround time: 2-5 Working 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.

< Back Neck Bands £249 Description Neck bands are visible horizontal lines or wrinkles that appear on the neck, often due to aging, sun damage, or the natural loss of skin elasticity. They are caused by the contraction of neck muscles (platysma) and can become more prominent with age. Treatments like Botox are commonly used to smooth or reduce the appearance of neck bands. What is Botox? Botox is a treatment that uses botulinum toxin to temporarily relax muscles. It is most commonly used in cosmetic procedures to reduce wrinkles and fine lines, especially on the face. Botox can also be used to treat conditions like excessive sweating. How can Botox help? For Neck Bands, Botox works by targeting muscles at various points across the Platysma, reducing the appearance of neck bands. Botox is a treatment designed to temporarily relax the muscles that cause these visible lines. By targeting these muscles, Botox helps reduce the appearance of neck bands, leaving your skin looking smoother. Administered through injections, it offers a non-surgical option for addressing neck bands. During your consultation, our experienced clinicians will discuss your concerns and determine if Botox is the right choice to help you achieve a refreshed and more confident appearance. Timeline and Expected results Botox can last for 4-6 months but effectiveness starts to decrease from 2-3 months, with noticeable improvements visible within 3 to 14 days after treatment, making it a popular choice for those looking to smooth and refresh the area. Product administered 2 units Botox injections spaced 2 cm apart along each band - points would be with each patient (following initial consultation) Appointment Duration 60 mins Note: This service is exclusively for individuals aged 18 and over. During booking, only a £30 deposit is required for the initial consultation, which will be deducted from the total treatment cost. The remaining payment will be collected at a later stage. If you require treatment for multiple areas , please fill out an enquiry form by clicking here , and we can offer you a more cost-effective quote. 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.

< Back ⠀ Testosterone Replacement Therapy (TRT) .. What is Testosterone? Testosterone is the primary male sex hormone, playing a vital role in overall health and wellbeing. It regulates sexual development, supports physical performance, maintains energy levels, and contributes to mental and emotional health. Key Functions of Testosterone: Sexual Health: Supports libido, sexual performance, and sperm production. Low levels can reduce sex drive and affect fertility. Muscle and Bone Health: Maintains muscle mass, strength, and bone density. Low testosterone can lead to muscle loss, increased body fat, and a higher risk of osteoporosis. Mood and Cognitive Function: Influences mood, motivation, memory, and concentration. Deficiency may cause irritability, depression, or brain fog. Energy and Vitality: Helps sustain overall energy, stamina, and physical endurance. Hair Growth and Skin Health: Regulates facial and body hair growth and contributes to healthy skin. Many men experience low testosterone due to aging, medical conditions, lifestyle factors, or hormonal imbalances. Early recognition and treatment can significantly improve quality of life. Symptoms of Low Testosterone Low sex drive and erectile dysfunction Fatigue or low energy Loss of muscle, increased body fat Difficulty concentrating Mood changes or irritability Poor sleep or insomnia Reduced facial or body hair Infertility How can Testosterone Replacement Therapy (TRT) help? Testosterone Replacement Therapy (TRT) can significantly improve the quality of life for men suffering from testosterone deficiency. By restoring testosterone levels to a healthy range, TRT helps alleviate symptoms such as reduced energy, low libido, muscle loss, mood disturbances, and cognitive difficulties. Treatment enhances physical strength, supports bone health, improves sexual function, and boosts overall mental well-being. With careful medical supervision and regular monitoring, TRT provides a safe and effective way to address hormonal imbalances, enabling men to regain vitality and confidence in their daily lives. Your TRT Treatment Journey Step 1: Symptom Screening with ADAM Questionnaire All patients start by completing the validated Androgen Deficiency in the Aging Male (ADAM) questionnaire. This quick and effective clinical tool helps us assess the severity and range of your symptoms, identifying whether further testing and treatment are appropriate. Step 2: Blood Testing We perform on-site blood draws conducted to the highest clinical standards. These tests help differentiate the cause of low testosterone and guide safe, tailored treatment planning. The blood panel will include: Total and free testosterone LH, FSH, SHBG Estradiol (E2), Prolactin PSA (if over 40 years) Full Blood Count (FBC) Liver enzymes, cholesterol, glucose Step 3: Personalised Consultation & Treatment Planning During your consultation(s), we will: Review your detailed medical history and symptoms Interpret your blood test results Discuss treatment options including injectable, oral, and topical therapies Address lifestyle factors and fertility considerations Obtain your informed consent and discuss safety monitoring This collaborative approach ensures your treatment is customized to your unique needs, with structured decision-making and careful dose adjustment. Ongoing Consultations and Monitoring After starting therapy, regular follow-ups help us: Monitor symptom improvement and overall treatment effectiveness Schedule repeat blood tests to track hormone and health markers Adjust dosages to maintain hormone balance and minimize side effects Provide ongoing education and safety checks to support your well-being Note This service is exclusively for individuals aged 18 and over.