Genetic Tests for Gastrointestinal Diseases

Microbiome MINI involves molecular genetic diagnosis to identify all bacterial species inhabiting the intestinal tract. It covers over 250 parameters, used to determine biodiversity, condition and permeability of the intestinal mucosa, the formation of functional groups (equol, butyrate, histamine, hydrogen sulfide), parasites presence. Valuable information about a person's health and lifestyle can be obtained depending on the microbiome condition. 

The Microbiome MIDI genetic panel is an extension of Microbiome MINI panel and additional types of parasites (Giardia lamblia, Entamoeba histolytica, etc.) are included.

The Microbiome MAXI genetic panel is an extension of Microbiome MIDI panel and additional species of the genera Actinobacteria and Clostridia; Hydrogen sulfide producing bacteria and Oxalate - degrading bacteria are included.

Gilbert's syndrome (GS) is the most common inherited hyperbilirubinemia. A genetic defect that results in decreased enzyme functionality in the liver is being tested. Homozygous carriers of the genetic defect show elevated levels of total and unconjugated (indirect) bilirubin. This is not always associated with the presence of symptoms, but most often manifests itself in moderate jaundice, chronic fatigue, headache, intolerance to fatty foods, epigastric pain. Some patients show chronic or recurrent symptoms, while others find out by accident during routine blood test they have GS. Complaints registered are related to other endogenous or exogenous factors, such as infectious disease, stress, etc.

The analysis of polymorphisms in genes involved in lipid metabolism (e.g. PNPLA3, GCKR, TM6SF2) is suitable for assessing the genetic risk of fatty liver development and progression in children and adults with liver disease ranging from non-alcoholic liver disease to hepatic steatosis. It could also be used as a prognostic marker in patients with other liver diseases, as well as in people with a family history but still without symptoms.

Indolamine-2,3-dioxygenase is an enzyme that metabolizes the amino acid tryptophan (TRP) and kynurenine. It occurs in a number of tissues and cells, such as the small intestine, lungs, female genital tract or placenta.

IDO is an important part of the immune system and plays a role in the natural defense against various pathogens. It is produced by cells in response to inflammation and has an immunosuppressive function due to its ability to limit T cell function and to involve mechanisms of immune tolerance. IDO activity is low under normal physiological conditions, but is dramatically increased by the presence of proinflammatory cytokines such as interferon-γ. This short-term activation of IDO occurs as part of the innate immune response and helps inhibit the growth of pathogens and parasites.

The Disorders of digestion and absorption panel includes quantification of the presence of digestive residues, pancreatic function, bile acid secretion, and other parameters that may affect the integrity and permeability of the intestinal mucosa.

Mucoviscidosis / Cystic fibrosis is an inherited, incurable disease with a high incidence among Caucasians. It is due to mutations in the CFTR gene, which leads to disruption of chloride channels on the secretory glands. As a result, excessively thick and sticky mucus is retained and accumulated, that is a favorable environment for the development of pathogenic microorganisms and for frequent infections. Many systems and organs are affected - most often the lungs and the digestive system.

Symptoms may occur before birth (with ultrasound evidence of hyperechogenic intestinal loops in the fetus), after birth (the most common indication is meconium ileus), or in early childhood (with frequent severe lung infections and slow weight gain). The treatment is supportive, and the hope in some cases is in a lung transplant. The average life expectancy of the affected patients is between 12 and 30 years.

The frequency of mutations in the CFTR gene among the Bulgarian population is estimated at 1 in 30 (or about 200,000 persons in the country), and every year an average of 20 children are born affected by this incurable disease.

The risk of giving birth to a child affected by cystic fibrosis in a family with both partners carriers is 25%. The only prevention is search for carriers and prenatal diagnostics.

A wide range of foods are naturally rich in histamine or release high levels of histamine during storage. Diamine oxidase (DAO) is an intestinal enzyme that normally destroys histamine contained in food. Therefore, even after consuming foods rich in histamine, no symptoms are observed. In carriers of genetic variants, DAO deficiency is observed, and undigested histamine is unnecessarily absorbed, exhibiting various symptoms.

Gastrointestinal symptoms: diarrhea, irritable bowel syndrome (IBS), chronic constipation, gas, stomach pain, vomiting.

Symptoms affecting the head and face: redness of the face and / or chest (a very common symptom), migraine-like headache, Quincke's edema (swelling that occurs mainly around the eyes and lips, sometimes in the throat).

Respiratory problems: asthma, stuffy nose and watery eyes.

Skin complaints: rash, eczema, urticaria, acne.

In women: dysmenorrhea. The symptoms of HIT disappear during pregnancy and return after birth.

Other symptoms: wheezing, sleep disorders, arrhythmia, mood swings - from fatigue to irritability and aggression.

 This test detects mutations in 20,000 genes associated with various hereditary conditions. It analyzes packages of target genes associated with specific conditions according to clinical diagnosis (Cancer Panel, Pediatric Panel, Diabetes Panel, Epilepsy Panel, Intellectual Deficiency/Autism Panel, Skeletal Dysplasias Panel, Cardiomyopathies Panel, etc.).