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In this section, you’ll discover a comprehensive list of health items featured in our health tests. These items are carefully evaluated to track health, prevent disease, and evaluate the efficiency of body processes. If you are missing a marker, please reach out. We can more or less test anything through our network of leading laboratories

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HIV-2 is a less common type of human immunodeficiency virus. Like HIV-1, it affects immune cells and can lead to immune suppression over time, but it is generally associated with slower disease progression. HIV-2 remains clinically significant and requires accurate diagnostic confirmation and medical monitoring.
HIV-1 is the most common type of human immunodeficiency virus. It primarily targets immune cells (especially CD4 T-cells) and, if left untreated, can gradually weaken the immune system over time. HIV-1 is the main cause of the global HIV epidemic and is the type most people refer to when they say “HIV”.
RAB38 is a member of the Ras-related protein family and serves as a key regulator of intracellular membrane trafficking, particularly within the endosomal-lysosomal system. Primarily located in the cytoplasm, RAB38 coordinates the movement and fusion of membrane-bound vesicles, ensuring correct sorting and delivery of cargo molecules. This protein plays a specialised role in melanosome biogenesis, supporting the maturation and transport of melanosomes — organelles responsible for melanin synthesis and distribution in melanocytes. Through its interactions with effector proteins and membrane fusion machinery, RAB38 facilitates these vital cellular processes.
PAX1 (Paired Box 1): PAX1 is a key regulatory gene involved in the development of the spine and thoracic cage. It plays a crucial role in skeletal formation, and mutations in PAX1 can lead to congenital spinal and skeletal malformations.
p-Cresol sulfate is a metabolite produced by intestinal bacteria through the breakdown of the amino acid tyrosine. It is primarily detoxified in the liver and excreted by the kidneys. Higher levels may indicate increased bacterial protein fermentation, impaired detoxification, or reduced renal clearance. Balanced levels suggest efficient gut microbial metabolism and normal liver–kidney function.
MTRR (Methionine Synthase Reductase): MTRR is an enzyme that plays a vital role in regenerating methylcobalamin, supporting the continuous activity of MTR in homocysteine metabolism. It is essential for maintaining proper methionine levels and normal DNA synthesis. Mutations in MTRR are associated with homocystinuria, which may contribute to developmental and neurological complications. Understanding MTRR function offers insights into potential therapies for genetic disorders.
ZKSCAN5 (Zinc Finger with KRAB and SCAN Domains 5): ZKSCAN5 encodes a zinc finger protein containing KRAB (Krüppel-associated box) and SCAN (SRE-ZBP, CTfin51, AW-1, and Number 18 cDNA) domains. These domains play important roles in transcriptional regulation and DNA binding. The specific functions of ZKSCAN5 are still under investigation.
Sarcosine is an amino acid that supports mental health and metabolism. It contributes to the synthesis of other amino acids, aids muscle growth, and supports cognitive function. Naturally found in egg yolks, turkey, and legumes, sarcosine is associated with brain health and is being investigated for its potential in mental health research.
CASQ2 (Calsequestrin 2): CASQ2 is a protein involved in calcium storage within the sarcoplasmic reticulum of cardiac muscle cells. It plays a key role in regulating calcium balance and cardiac muscle contraction. Mutations in CASQ2 are linked to catecholaminergic polymorphic ventricular tachycardia, a condition characterised by irregular heartbeats triggered by physical activity or stress.
LBP (Lipopolysaccharide-Binding Protein): LBP is a protein that plays a key role in the immune response to bacterial infections. It binds to bacterial lipopolysaccharides (LPS) and helps activate the innate immune system. LBP is an important component of the body’s defence against bacterial pathogens.
Tarragon is a fragrant herb known for its distinctive aniseed flavour and is commonly used to enhance the flavour of various dishes. While generally safe, some individuals may experience tarragon intolerance, which can affect their ability to consume it without discomfort.
REX1BD (REX1 Basic Domain): REX1BD is a gene region characterised by a basic domain that may contribute to DNA binding or protein–protein interactions. While its exact functions and roles in cellular processes are not yet fully understood, ongoing research aims to clarify its significance in biological systems.
PFKP (Phosphofructokinase, Platelet): PFKP is a key enzyme in the glycolytic pathway that regulates the rate of glucose metabolism. It catalyses the conversion of fructose-6-phosphate to fructose-1,6-bisphosphate. Proper regulation of PFKP is essential for cellular energy production, and its dysregulation has been studied in cancer, where altered glucose metabolism is commonly observed.
SCAMP5 (Secretory Carrier Membrane Protein 5): SCAMP5 is a member of the SCAMP family, involved in membrane trafficking processes. It plays a crucial role in regulating membrane recycling and exocytosis, particularly in neurons. SCAMP5 is essential for neurotransmitter release and neuronal communication, and its function may have implications in neurological disorders.
ADH1B (Alcohol Dehydrogenase 1B): ADH1B is a gene that encodes an enzyme involved in the initial stage of alcohol metabolism, converting ethanol into acetaldehyde. Genetic variations in ADH1B can affect the rate of alcohol metabolism, influencing alcohol tolerance and the risk of alcohol-related illnesses.
NUDT9 (Nudix Hydrolase 9): NUDT9 is a gene that encodes a member of the Nudix hydrolase family. Proteins in this family are involved in the hydrolysis of nucleoside diphosphate derivatives. While the specific substrates and functions of NUDT9 are still being studied, it plays a role in nucleotide metabolism and cellular homeostasis.
LIN7C (Lin-7 Homolog C, Crumbs Cell Polarity Complex Component): LIN7C is a protein that represents the role of the LIN7 family in establishing and maintaining cell polarity. It is crucial for proper cell function and tissue organisation, particularly in neural and epithelial cells. Mutations or dysregulation of LIN7C can disrupt cell polarity and signalling, potentially contributing to developmental abnormalities or disease.
Fruit allergies, such as those to kiwi, mango, and banana, are increasingly recognised and reflect the body’s immune response to specific proteins in these fruits. These allergies can cause a range of symptoms, from mild discomfort to severe reactions, and identifying and managing them effectively is essential for maintaining health and well-being.
Acinetobacter spp. are a group of Gram-negative bacteria commonly found in soil, water, and sometimes in the human gut. Although not typically dominant in a healthy microbiome, certain strains may colonise the intestines, especially following antibiotic use or in hospital environments. Some species, such as Acinetobacter baumannii, are known for their resistance to antibiotics and their role in infections, particularly in immunocompromised individuals. In stool analysis, the presence of Acinetobacter may reflect environmental exposure, microbial imbalance, or antibiotic-related shifts in gut flora.
KCNMB3 (Potassium Calcium-Activated Channel Subfamily M Regulatory Beta Subunit 3): KCNMB3 is part of a family of calcium-activated potassium channels that help regulate neuronal excitability and vascular tone. This gene is important for blood pressure regulation and cardiovascular function, and variations in KCNMB3 may be linked to hypertension and heart disease.
Tuna and salmon are popular fish choices worldwide, renowned for their flavour and nutritional benefits. However, some individuals may experience allergic reactions to these fish — a condition that can range from mild discomfort to severe, life-threatening responses. Understanding the symptoms, triggers, and management strategies for tuna and salmon allergies is important for those affected.
Dermatophagoides pteronyssinus (D. pteronyssinus), commonly referred to as the European house dust mite, is a prevalent indoor allergen. These microscopic creatures thrive in warm, humid conditions and feed on organic material such as shed human skin flakes. Their body fragments and waste products can trigger allergic reactions and asthma in susceptible individuals.
Catnip (Nepeta cataria) is a herbaceous plant from the mint family, best known for its stimulating effects on cats. While it is not typically consumed by humans, some individuals may experience catnip intolerance — a sensitivity to its compounds that can cause digestive discomfort. This is different from a catnip allergy, which involves an immune reaction and may trigger more severe symptoms.
5-Hydroxyindoleacetate (5-HIAA) is a measurement that reflects the breakdown of serotonin, a key neurotransmitter in the body. It is primarily used as a clinical marker, especially for detecting and monitoring carcinoid tumours that may overproduce serotonin. Urinary 5-HIAA levels can also serve as an approximate indicator of the body’s overall serotonin levels.
Syphilis is a sexually transmitted infection (STI) caused by the bacterium Treponema pallidum. It progresses through several stages — primary, secondary, latent, and tertiary — and can affect various organ systems over time. Syphilis is primarily transmitted through sexual contact, including oral, anal, and vaginal sex, and can also be passed from mother to child during pregnancy, resulting in congenital syphilis.
Bilirubin is a yellow compound that results from the breakdown of red blood cells in the body. It is transported to the liver, where it is processed and excreted into the bile. Healthy liver function ensures bilirubin is efficiently filtered from the blood and converted into a form that can be eliminated via the digestive system. Blood bilirubin levels are an important indicator of liver health, bile duct function, and red blood cell turnover.
Shellfish allergies are a type of food allergy that affect both adults and children. This allergy often involves a variety of shellfish, including blue mussel, oyster, clam, and scallop. Because allergic reactions can be severe, understanding how to recognise and manage a shellfish allergy is essential for those affected.
The Testosterone/Cortisol ratio reflects the balance between anabolic (building) and catabolic (breaking down) processes in the body. Testosterone supports muscle growth, energy, and recovery, while cortisol is a stress hormone that can promote tissue breakdown when chronically elevated. A healthy ratio may indicate good resilience, recovery capacity, and hormonal balance, whereas a low ratio may suggest high stress levels, overtraining, or hormonal imbalance. This marker is particularly relevant for athletes, individuals under chronic stress, or those experiencing fatigue-related symptoms. It helps provide context to both testosterone and cortisol values when interpreted together.
Branched-Chain Amino Acids (BCAAs) refer to a group of three essential amino acids: leucine, isoleucine, and valine. These amino acids play key roles in muscle protein synthesis, energy production, and recovery, especially during physical activity. Measuring total BCAA levels in the blood provides insight into protein metabolism, nutritional status, and muscle health. Imbalances can be linked to poor dietary intake, metabolic dysfunction, or increased demand due to stress, illness, or intense training. BCAA levels are particularly relevant for athletes, individuals with fatigue, or those recovering from illness or muscle loss.
Blood group B has B antigens on red blood cells and anti-A antibodies in the plasma. People with this blood type can donate blood to those with blood group B or AB. They can receive blood from donors with blood group B or O. Blood group B is less common in some regions. Compatibility is essential for safe transfusions.
Barley is a widely used grain found in a variety of foods and drinks — from bread and cereals to beer. For some people, barley can trigger an allergic reaction due to its protein content. Recognising the symptoms and properly managing a barley allergy is important for those affected.
Citrate is a compound that plays a key role in the citric acid cycle, essential for energy production in aerobic organisms. It helps break down carbohydrates, fats, and proteins to produce ATP (energy). Citrate also supports the regulation of the body’s acid-base balance and contributes to kidney stone prevention by binding with calcium.
IgG antibodies are produced later in the immune response and typically indicate previous exposure to Mycoplasma pneumoniae. They usually appear 2–3 weeks after the onset of infection and can remain detectable for months or even years. A positive IgG result does not necessarily signify an active infection but demonstrates that the immune system has encountered the pathogen before. When tested alongside IgM, IgG helps distinguish between acute, recent, and past infections.
SELENOM (Selenoprotein M): SELENOM is a member of the selenoprotein family, proteins that incorporate selenium. It is primarily found in the brain and is believed to have antioxidant properties. While its exact role in neurological function is not fully understood, SELENOM may help protect neurons from oxidative stress, with potential implications for neurodegenerative diseases.
The Monkeypox virus A29L antigen is a surface protein associated with the monkeypox virus (Mpox), a zoonotic virus that can be transmitted from animals to humans and between individuals. Detection of the A29L antigen in a sample indicates an active infection, as antigens are typically present during the early symptomatic phase of the illness.
PRIMA1 (Proline Rich Membrane Anchor 1): PRIMA1 is a gene that encodes a protein responsible for anchoring acetylcholinesterase to neuronal membranes. This protein is crucial for the breakdown of the neurotransmitter acetylcholine and plays an important role in regulating cholinergic neurotransmission. It is also significant in research into neurodegenerative diseases such as Alzheimer’s.
MDFI (MyoD Family Inhibitor): MDFI is a gene involved in regulating muscle differentiation and development. It acts as an inhibitor of MyoD family transcription factors, which are key regulators of myogenesis. By modulating their activity, MDFI helps control muscle cell proliferation and differentiation, playing a crucial role in muscle formation and repair. Dysregulation of MDFI can affect muscle development and regeneration.
Firmicutes is one of the major bacterial phyla in the human gut microbiome, comprising many species involved in energy extraction from food. These bacteria efficiently break down complex carbohydrates and produce short-chain fatty acids, which can support gut and metabolic health. However, a disproportionately high ratio of Firmicutes to Bacteroidetes has been linked in some studies to obesity and metabolic disturbances. The balance of Firmicutes is therefore an important marker for assessing microbial diversity and potential metabolic tendencies. Individual health effects depend on overall composition and host factors.
New World hookworms (Necator americanus) are a type of parasitic worm commonly found in the Americas. These parasites attach to the intestinal walls of their hosts, causing chronic blood loss, anaemia, and protein deficiency. The larvae can penetrate the skin from contaminated soil, putting individuals who come into contact with such environments at risk of infection.
King crab, a highly prized delicacy in seafood cuisine, is cherished for its rich flavour and tender texture. However, some people may experience intolerance to king crab, which can restrict their ability to enjoy this seafood.
Pinworms (Oxyuris), also known as threadworms, are common intestinal parasites, especially in children. These small, white worms cause itching around the anus, disturbed sleep, and irritability due to their egg-laying at night. Infection spreads via the faecal-oral route, often through ingesting microscopic eggs from contaminated hands, surfaces, or food.
Sex hormone-binding globulin (SHBG) is a glycoprotein produced principally by the liver that binds to and transports sex steroids—mainly testosterone and oestradiol—in the bloodstream. By binding these hormones, SHBG regulates the amount that is biologically available to tissues. Higher SHBG generally reduces the free (unbound) fraction of testosterone and oestradiol, while lower SHBG increases it. Due to this buffering role, SHBG is a key determinant of hormonal balance in both men and women and is commonly measured alongside total testosterone and oestradiol to assist with interpretation.
Aubergine intolerance, also referred to as eggplant intolerance in some areas, is a condition characterised by difficulty digesting aubergine. Unlike an aubergine allergy, which involves an immune system reaction and can cause more severe symptoms, intolerance mainly results in gastrointestinal discomfort. Individuals with aubergine intolerance usually experience digestive issues after eating aubergine.
Cabbage intolerance refers to difficulty digesting cabbage, often resulting in gastrointestinal discomfort. Unlike a cabbage allergy, which triggers an immune response, this intolerance is related to digestion and typically causes symptoms after consuming cabbage.
Herring intolerance is a condition where the body struggles to digest herring, often resulting in gastrointestinal discomfort. Unlike a herring allergy, which triggers an immune response and can cause severe reactions, herring intolerance is usually confined to digestive symptoms following the consumption of this type of fish.
Chamomile tea intolerance is a condition that causes difficulty in digesting chamomile tea, an herbal infusion made from dried chamomile flowers. Unlike a chamomile tea allergy, which triggers an immune response and can lead to more severe reactions, intolerance primarily results in digestive discomfort. People with chamomile tea intolerance usually experience gastrointestinal symptoms after drinking chamomile tea.
Acarus siro, commonly referred to as the flour mite, is a species frequently found in stored grains and flour. These mites can prosper in kitchen cupboards and pantries, especially in damp conditions. For sensitive individuals, exposure may provoke allergic reactions and can be particularly troublesome for those with existing respiratory ailments.
Honey intolerance is a condition where individuals struggle to digest honey, a natural sweetener made by bees. It can cause digestive discomfort and is different from a honey allergy, which involves an immune response and may lead to more serious symptoms. Those with honey intolerance usually experience digestive problems after eating honey or products that contain it.
LDL (Low-Density Lipoprotein) is a type of cholesterol often called “bad” cholesterol. It transports cholesterol particles through the bloodstream, and elevated levels can contribute to plaque buildup in the arteries. This accumulation, known as atherosclerosis, can narrow and harden the arteries, increasing the risk of heart disease and stroke.
Rye intolerance is a condition where the body struggles to digest rye, causing gastrointestinal discomfort. Unlike rye allergy, which provokes an immune system response and can lead to more severe symptoms, rye intolerance generally results in digestive problems after consuming rye or products made from rye.
AHSG (Alpha-2-HS-Glycoprotein), also known as fetuin-A, is a glycoprotein involved in various physiological processes, including the inhibition of mineralisation and regulation of insulin sensitivity. Elevated AHSG levels have been linked to insulin resistance and metabolic syndrome, suggesting its potential as a biomarker for these conditions.
Shrimp allergy is a common shellfish allergy caused by an immune reaction to proteins found in shrimp. It is one of the most frequent food allergies in adults and can trigger symptoms ranging from mild to severe, including anaphylaxis. This allergy is usually lifelong and may be triggered by consuming shrimp or even inhaling steam during cooking.
ATP8B1 (ATPase Phospholipid Transporting 8B1) is a gene that encodes a phospholipid transporter located in the liver cell membrane. It helps maintain the lipid balance of cell membranes and bile. Mutations in ATP8B1 can cause progressive familial intrahepatic cholestasis (PFIC), a group of inherited liver disorders.
Avocado intolerance is a condition where individuals find it difficult to digest avocado, often leading to gastrointestinal discomfort. Unlike avocado allergy, which triggers an immune system response and can cause more severe reactions, avocado intolerance is confined to digestive symptoms occurring after eating avocado.
Urinary leukocytes are white blood cells present in urine. They are usually absent or found in very small quantities, and elevated levels often indicate infection or inflammation in the urinary tract or kidneys. Their detection is a key marker for diagnosing urinary tract infections (UTIs) and other kidney-related disorders.
Non-HDL cholesterol is a measure of all the harmful types of cholesterol, including LDL (low-density lipoprotein), VLDL (very low-density lipoprotein), and other lipid particles that contribute to plaque buildup in your arteries. It is calculated by subtracting your HDL (high-density lipoprotein) or "good" cholesterol level from your total cholesterol number. Non-HDL cholesterol is considered a more comprehensive indicator of heart disease risk than LDL cholesterol alone, as it includes all the atherogenic particles.
Ureaplasma is a group of tiny bacteria commonly found in the urogenital tracts of both men and women. They are part of the normal genital flora but can cause infection under certain conditions. Ureaplasma species, particularly Ureaplasma urealyticum and Ureaplasma parvum, are linked to conditions such as urethritis, pelvic inflammatory disease (PID), and infertility. Although they can be sexually transmitted, they are not always strictly classified as STIs.
Fennel intolerance is a condition where the body struggles to digest fennel, an aromatic herb commonly used in Mediterranean and Indian cooking. It usually causes gastrointestinal discomfort and is distinct from a fennel allergy, which involves an immune response and can lead to more severe symptoms. People with fennel intolerance generally experience digestive problems after eating fennel or foods flavored with fennel.
Tapeworms are intestinal parasites that can affect humans and animals. These flat, segmented worms can grow to considerable lengths. They typically enter the body through the consumption of contaminated food or water. While tapeworm infections may sometimes be asymptomatic, they can also cause abdominal discomfort, diarrhoea, and weight loss.
Threadworms (Strongyloides stercoralis) are tiny intestinal parasites that cause strongyloidiasis. They may be asymptomatic or cause a range of symptoms, including abdominal pain, diarrhoea, and, in severe cases, malabsorption. Transmission takes place through skin contact with contaminated soil. These worms are notable for their ability to reproduce within the host, which can lead to persistent, long-lasting infections.
Dill intolerance is a condition where individuals find it difficult to digest dill, an herb commonly used for its distinctive flavour in pickles, salads, and seafood dishes. It generally causes gastrointestinal discomfort and is different from a dill allergy, which triggers an immune response and can lead to more severe symptoms. Those with dill intolerance usually experience digestive problems after consuming dill or foods containing it.
Beef intolerance is a condition in which the digestive system reacts negatively to the consumption of beef. Unlike a beef allergy, which causes an immune response and can be more severe, beef intolerance is associated with difficulties in digesting or processing certain components of beef.
ATP1B3 (ATPase Na+/K+ Transporting Subunit Beta 3): ATP1B3 is a component of the Na⁺/K⁺ ATPase pump, which maintains cellular ion gradients essential for regulating cell volume and electrical activity. This subunit affects the pump’s activity and specificity, supporting muscle function, nerve signalling, and kidney filtration. Changes in ATP1B3 may be associated with cardiovascular and neurological conditions.
Urine density, also known as urine specific gravity, is a measurement of the concentration of solutes in the urine. It indicates the kidney’s ability to concentrate or dilute urine and acts as a marker of hydration status and kidney function. Although normal values may vary, abnormalities can suggest dehydration, overhydration, or underlying kidney conditions.
Lamb intolerance is a condition where the body struggles to digest lamb meat, resulting in gastrointestinal discomfort. Unlike a lamb allergy, which triggers an immune system response and can cause severe symptoms, lamb intolerance usually leads to digestive problems that arise after eating lamb.
HORMAD1 (HORMA Domain-Containing Protein 1): HORMAD1 is a gene that encodes a protein containing a HORMA domain, which is involved in chromosome dynamics during meiosis. It plays a key role in regulating homologous chromosome pairing and segregation, contributing to genetic diversity and proper gamete formation.
Halibut intolerance is a condition where individuals have difficulty digesting halibut, a flatfish commonly consumed as a seafood delicacy. It can cause gastrointestinal discomfort and is different from a halibut allergy, which triggers an immune system response and may lead to more severe symptoms. People with halibut intolerance usually experience digestive problems after eating halibut or dishes made with it.
Kynurenine is a key metabolite in the breakdown of the essential amino acid tryptophan. It serves as a precursor to several important compounds, including the neuroprotective kynurenic acid and the neurotoxic quinolinic acid, and plays a crucial role in a variety of physiological and pathological processes in the body.
Urinary nitrates are chemical compounds usually absent or present only in small quantities in urine. Their presence can indicate a bacterial infection, such as a urinary tract infection (UTI), as certain bacteria can convert urinary nitrite into nitrate. Nitrate testing is a common diagnostic method for detecting UTIs.
HPRT1 (Hypoxanthine Phosphoribosyltransferase 1): HPRT1 is an essential gene involved in purine metabolism. It catalyses the conversion of hypoxanthine to inosine monophosphate (IMP), a key precursor for purine nucleotide synthesis. Mutations in HPRT1 can result in Lesch-Nyhan syndrome, a rare genetic disorder associated with neurological and behavioural abnormalities.
SERTAD2 (SERTA Domain Containing 2): SERTAD2 is a multifunctional protein containing a SERTA domain, which is associated with cell cycle regulation. Beyond its role in cell cycle progression, SERTAD2 is involved in crucial cellular processes such as DNA replication, DNA repair, and chromatin remodelling. Its interactions with various transcription factors and co-regulators establish it as an important regulator of gene expression.
Grass pollen allergies are an indicator of sensitivity to various grass species — including sweet vernal, orchard grass, common reed, and bent grass. These allergens can have a considerable impact on individuals susceptible to allergic reactions, affecting respiratory health, causing eye irritation, and reducing overall well-being. Understanding these allergies, recognising symptoms, and implementing effective management strategies can help alleviate discomfort and enhance quality of life during peak pollen seasons.
Carrot allergy is an allergic reaction caused by specific proteins found in carrots. Although rare, it can affect individuals who are sensitive to certain plant-based foods. It is often associated with Oral Allergy Syndrome (OAS), especially in people allergic to birch or mugwort pollen, due to cross-reactive proteins.
KMO (Kynurenine 3-monooxygenase) is an enzyme that plays a key role in the kynurenine pathway, responsible for metabolising the amino acid tryptophan. It helps regulate the balance of metabolites within this pathway, influencing processes that can affect brain health. KMO activity has been linked to neurological conditions such as Alzheimer’s disease, Huntington’s disease, and schizophrenia.
PKP4 (Plakophilin 4): PKP4 is a protein that supports cell–cell adhesion, particularly within desmosomes — specialised structures that link neighbouring cells. It helps maintain tissue integrity, especially in areas exposed to mechanical stress. Mutations in PKP4 can disrupt this function, contributing to certain skin and cardiac disorders.
Grape intolerance is a condition where the body struggles to digest grapes, causing gastrointestinal discomfort. Unlike a grape allergy, which provokes an immune response and can lead to severe reactions, grape intolerance generally results in digestive symptoms following the consumption of grapes or products derived from grapes.
Urobilinogen in urine is a by-product of red blood cell breakdown, formed in the intestines from bilirubin and excreted in the urine. It is normally present in low concentrations and acts as an indicator of liver function and health. Abnormally high or low levels may suggest liver disease or blood-related conditions.
THADA (Thyroid Adenoma Associated): THADA is a gene linked to thyroid adenomas, a type of thyroid tumour. It may play a role in thyroid tumourigenesis and has been implicated in the development of thyroid cancer, making it a subject of ongoing research in thyroid diseases.
Pancreatic elastase is an enzyme produced by the pancreas that plays a vital role in protein digestion. Measuring its levels in stool can provide valuable insights into pancreatic function. As the enzyme remains stable in faecal matter, it serves as a reliable marker for assessing the exocrine function of the pancreas, particularly in diagnosing pancreatic insufficiency.
SCAMP1 (Secretory Carrier Membrane Protein 1): SCAMP1 is a protein involved in membrane trafficking processes, particularly in the recycling of membrane proteins and in exocytosis. It plays a key role in cellular communication and the transport of substances within cells, which is essential for various cellular functions.
Allergies to seafood such as plaice, anchovy, and Alaska pollock occur when the immune system reacts to specific proteins in these fish. These reactions can cause a range of symptoms and may significantly affect diet and lifestyle. Understanding the triggers, symptoms, and management strategies is important for those living with these allergies.
Chicken intolerance is a condition where the body struggles to digest chicken, leading to digestive discomfort. Unlike a chicken allergy, which causes an immune response and can result in more immediate and severe reactions, chicken intolerance generally produces gastrointestinal symptoms after eating.
COL11A1 (Collagen Type XI Alpha 1 Chain): COL11A1 is a gene that encodes a key component of type XI collagen, which is crucial for the structure and integrity of connective tissue. Mutations in COL11A1 are associated with several connective tissue disorders, including certain forms of Ehlers-Danlos syndrome and Stickler syndrome.
The quantitative determination of nitrogen (N) is a laboratory test that measures nitrogen levels in bodily excretions, typically urine or faeces, to assess protein digestion and absorption. This test is essential for evaluating nutritional status, especially in clinical settings where protein-energy malnutrition or imbalances may be a concern. It provides key insights into metabolic functions related to protein turnover and can help diagnose conditions affecting protein metabolism, including kidney disease, malabsorption syndromes, and certain metabolic disorders.
Dientamoeba fragilis is a single-celled parasite that inhabits the human gastrointestinal tract. It is associated with dientamoebiasis, a condition that can cause a range of digestive symptoms. Its precise mode of transmission and role in the disease are still being researched.
SLC22A5 (Solute Carrier Family 22 Member 5): SLC22A5 is a protein, also known as OCTN2, that acts as a key carnitine transporter in the body. It enables the cellular uptake of carnitine, a compound essential for transporting fatty acids into mitochondria for energy production. This process is crucial for energy metabolism in tissues such as the heart and muscles. Mutations in the SLC22A5 gene can lead to primary carnitine deficiency, a condition characterised by muscle weakness and cardiomyopathy, emphasising its vital role in metabolic health and energy balance.
Cucumber intolerance is a condition where the body struggles to digest cucumber, often causing gastrointestinal discomfort. Unlike a cucumber allergy, which provokes an immune response and can lead to more severe reactions, cucumber intolerance generally results in digestive symptoms after eating.
Baker’s yeast intolerance is a condition where individuals have difficulty digesting baker’s yeast, often leading to gastrointestinal discomfort. Unlike a baker’s yeast allergy, which provokes an immune response and can cause more severe reactions, intolerance is limited to digestive issues. Symptoms usually appear after consuming foods or drinks containing baker’s yeast.
ATXN1 (Ataxin 1): ATXN1 is a gene that encodes the ataxin-1 protein, which plays a role in neuronal function. Mutations in ATXN1, particularly those involving expanded CAG repeats, lead to spinocerebellar ataxia type 1 (SCA1) — a neurodegenerative disorder characterised by progressive loss of motor coordination and balance. Studying ATXN1 is important for understanding SCA1 and developing potential treatments for related neurological diseases.
GPR139 is a G protein-coupled receptor (GPCR) predominantly expressed in the central nervous system, particularly in areas involved in the regulation of neurotransmitter systems and neuronal activity. It is believed to modulate neurotransmission, especially dopamine and glutamate signalling, and may function as an inhibitory receptor by decreasing cAMP levels and reducing neuronal excitability.
AMBRA1 (Autophagy and Beclin 1 Regulator 1): AMBRA1 is a key protein that regulates autophagy, the process by which cells break down and recycle their components. It supports cell survival during stress by collaborating with BECN1 (Beclin 1) to initiate the formation of autophagosomes. Proper functioning of AMBRA1 is essential for cellular homeostasis, and its dysregulation has been linked to developmental disorders and neurodegenerative diseases.
ALX4 (ALX Homeobox 4): ALX4 is a transcription factor that plays a crucial role in skull and limb development. Mutations in this gene are associated with craniofacial malformations and skeletal abnormalities, highlighting its significance in bone formation and morphogenesis.
APEH (Acylaminoacyl-Peptide Hydrolase): APEH is an enzyme that plays a crucial role in protein turnover by breaking down acetylated peptides. It is involved in the processing of damaged or misfolded proteins, helping to preserve protein homeostasis. Malfunctions in APEH can affect neurodegenerative processes and the body's response to oxidative stress.
SCARB1 (Scavenger Receptor Class B Member 1): SCARB1 is a protein that plays a crucial role in the selective uptake of cholesterol esters from high-density lipoprotein (HDL) particles. It is essential for lipid metabolism and reverse cholesterol transport. Variants in SCARB1 can affect cholesterol levels and have been associated with cardiovascular disease risk.
ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2): ALDH1A2 is an enzyme belonging to the aldehyde dehydrogenase family that catalyses the oxidation of retinaldehyde to retinoic acid, the active form of vitamin A. This conversion is essential for developmental processes such as embryogenesis, tissue patterning and organ formation, as it regulates gene expression and cell differentiation through retinoic acid signalling. ALDH1A2 is highly expressed in developing tissues, including limb buds, the central nervous system and sensory organs.
Palladium is a metal used in electronics, jewellery, and dental materials. While valuable in various industries, high levels of inhalation or ingestion can be toxic, particularly in occupational settings. Exposure may cause respiratory, skin, and digestive problems, and some individuals may develop allergic reactions such as dermatitis.
Alaska pollock intolerance is a condition in which individuals have difficulty digesting Alaska pollock, a type of fish, resulting in gastrointestinal discomfort. Unlike an allergy to Alaska pollock, which triggers an immune system reaction and can cause more severe symptoms, intolerance typically leads to digestive issues after consumption.
Chlamydia is a common sexually transmitted infection (STI) caused by the bacterium Chlamydia trachomatis. It can affect both men and women and may lead to serious, lasting damage to a woman’s reproductive system, increasing the risk of infertility. In some cases, it can also result in a potentially fatal ectopic pregnancy, where the pregnancy develops outside the womb.
KCTD1 (Potassium Channel Tetramerization Domain Containing 1): KCTD1 is a protein that interacts with potassium channels, influencing their activity. It plays important roles in cellular functions such as signal transduction and ion transport. Mutations in KCTD1 have been associated with developmental disorders, particularly those affecting the skin and hair.
Anti-Müllerian Hormone (AMH) is a hormone produced by the ovaries that indicates a woman’s ovarian reserve, reflecting the number of eggs remaining. It is commonly used to assess fertility potential and is an important marker in reproductive medicine.
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