Inherited metabolic disorders are caused by defects in enzyme-coding genes involved in metabolism. It is a rather diverse group of several hundred diseases with different manifestations, different types of inheritance and treatment options. As a result of poor metabolic function, metabolism is impaired, which can lead to severe organ damage. A large number of metabolic disorders result in health problems caused by the accumulation of substances that become toxic and interfere with the normal functioning of the body.
The most common metabolic disorders include food intolerances, inflammatory diseases of the digestive tract, accumulation of minerals and chemicals in the body, leading to a range of digestive, skin, respiratory and other problems. Specific manifestations of the disease are listed for each test. Genetic analysis is a reliable method for both the diagnostic purposes and determination of the risk of occurrence in relation to congenital predispositions. Based on the results, appropriate therapeutic or preventive measures can be set, reducing the risk of health complications and improving quality of life.
Lactose intolerance is a genetic disorder. It is a partial or complete inability of the digestive tract to process lactose, or milk sugar, which is found in milk, dairy products and other foods, leading to a range of digestive problems. Lactose intolerance affects a large proportion of the adult and child population. You can easily find out if you are one of them by genetic analysis.
You will receive the result within 10 working days.
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Celiac disease, or gluten intolerance, is a genetic autoimmune disease. Gluten is a component of most cereals and foods made from these cereals. In people with celiac disease, gluten causes inflammation of the small intestine lining, reducing its ability to digest and absorb nutrients. Genetic analysis will reveal whether you have a predisposition to the disease, or it may help to make a final diagnosis.
You will receive the result within 10 working days.
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Histamine is a naturally occurring chemical in the body. It is found in large quantities in some foods, where it forms as a result of the ripening and fermentation process. If you suffer from repeated digestive problems after eating certain foods, or if someone in your family has been diagnosed with the disease, a genetic analysis will confirm or refute whether you are predisposed to histamine intolerance (HIT). In the case of a proven predisposition, a low-histamine diet will help to eliminate the difficulties.
You will receive the result within 10 working days.
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A genetic test that can show the predispositions for Gilbert's syndrome or find out the cause of your problems. Gilbert's syndrome (GS) is an inherited disorder of bilirubin (bile pigment) metabolism. It is characterized by a slightly elevated level of bilirubin in the blood without signs of liver disease. In a ratio of 4:1, it is more common in men.
Most sufferers are completely free of difficulties, but some experience non-specific digestive disorders, reduced ability to concentrate, weakness and/or increased fatigue - especially when fasting. Increases in bilirubin levels occur especially after physical exertion, mental stress, alcohol excess, accidents, infections and in women during menstruation. The analysis is carried out from a sample of blood taken or a swab from the oral cavity.
Gene, specification: UGT1A1 gene
You will receive the result within 10 working days.
detailed informationGenetic testing that can confirm a diagnosis of the disease or detect a risk mutation in healthy individuals, which puts their offspring at increased risk of developing haemochromatosis. Haemochromatosis is a hereditary disease characterised by excessive absorption of iron from the digestive tract and its deposition in various organs, especially the liver, pancreas, heart, pituitary gland, joints, skin and genital organs, leading to severe and irreversible damage over time.
The disease is caused by mutations in the HFE gene, which is essential for maintaining adequate iron stores in the body. The first symptoms usually appear in adulthood, usually between the ages of 40 and 60, and are up to 10 times more common in men, as women regularly lose iron during their menstrual cycle. Symptoms of the disease are rather non-specific and include weakness, fatigue, apathy, abdominal, muscle and joint pain, heart problems, loss of libido, breathing difficulties, increased skin pigmentation, hair loss, etc. The analysis is carried out on a sample of blood taken or a swab from the oral cavity.
The standard examination tests for the two most common mutations of the HFE gene, which are the usual causes of the disease.
Gene specification: HFE gene (mutation C282Y, H63D)
The PLUS test analyses not only the most common mutations but also the rarer mutations of the HFE gene, TFR2 and FPN1, which are less frequently responsible for the disease.
Gene specification: HFE gene (C282Y, H63D, V53M, V59M, H63H, S65C, Q172H, P160delC, E168Q, E168X, W169X, Q283P), TFR2 gene (E60X, M172K, Y250X, AVAQ594-597del), FPN1 gene (N144H, V162del)
You will receive the result within 10 working days.
detailed informationGenetic testing that can confirm the diagnosis at the DNA level. It will allow the detection of healthy carriers who are at increased risk of developing Wilson's disease in their offspring. It is an inherited metabolic disease caused by a genetic defect in an enzyme that transports copper in the body, leading to excessive copper accumulation, especially in the liver and brain, which causes subsequent damage.
However, other organs are also affected by copper accumulation, especially the heart, kidneys, endocrine glands and eyes. Left untreated, the disease can cause severe psychiatric disorders, brain damage or liver failure. Genetic testing is particularly useful in patients with a clinical suspicion of Wilson's disease and in people with a family history of Wilson's disease. Testing is also recommended in persons under 45 years of age with unclear liver cirrhosis.
Gene, specification: ATP7B gene (whole gene)
You will receive the result within 2 months.
detailed informationGenetic testing which can show the predispositions for Crohn's disease or identify the cause of your digestive problems. Crohn's disease is a chronic inflammatory disease of the digestive tract. The most commonly affected area is the small and large intestine.
It is an autoimmune disease whose origin is not yet fully understood, but a combination of genetic predisposition and external factors, including lifestyle, undoubtedly play a major role. The most common manifestations of the disease include abdominal pain and chronic diarrhoea.
Gene, specification: gene NOD2/CARD15 (c.2104C>T, c.2722G>C, c.3019_3020insC)
You will receive the result within 15 working days.
detailed informationGenetic testing that can show the predispositions for pancreatic disease or identify the cause of your problems. Pancreatitis is an inflammatory disease of the pancreas. Genetic predispositions combined with lifestyle, especially alcohol consumption, smoking, obesity and poor dietary habits, are the main causes of a rare form of chronic pancreatitis.
Chronic forms of pancreatitis are accompanied by abdominal pain after eating, subsequent weight loss and change in stool. With extensive damage to the pancreas, diabetes, hepatitis or severe liver damage may develop. The analysis is performed on a sample of blood taken.
Gene, specification: genes PRSS1, PRSS2, SPINK1
You will receive the result within 6 months.
detailed information
After ordering the test, you will receive an email with detailed information. A DNA sample is most often obtained through an oral swab or blood sample. You can perform the oral swab yourself in the comfort of your own home using a collection kit which will be sent to you by mail together with instructions and other documents. You can have your blood drawn at your local physician's office or at our outpatient clinic. The result of the analysis will be sent to you by e-mail or by post as agreed. In the case of a positive result, we recommend an appointment for a genetic consultation.
