Diagnostic Tests

Overweight and related problems are becoming increasingly important in clinical practice worldwide. Overweight and obese patients show an increased risk of developing one or more serious diseases such as hypertension, dyslipidemia, cardiovascular disease, and diabetes. The genetic panel for predisposition to overweight and obesity in early childhood is based on individual genetic differences in fat and carbohydrate metabolism, fat absorption, regulation of insulin and leptin, and regulation of appetite. The analysis involves study of genetic variations, marked as the most important in the genetic map of this pathology in childhood.

We also offer screening for mutations in syndromic and non-syndromic obesity in early childhood. Mutations in certain genes are associated with this disorder and cause extreme hunger and increased appetite (hyperphagia).

Tryptophan is one of the 20 essential amino acids and is essential in humans. It is a building block in protein biosynthesis and is a precursor to serotonin, tryptamine, melatonin and indolamine. Half of the tryptophan that a person gets is used by the body to synthesize niacin (vitamin B3). Chronic tryptophan deficiency leads to decreased levels of serotonin and other neurotransmitters. This can affect mood, lead to memory impairment, and increase aggression. The human body does not produce tryptophan. It must be obtained from the food or supplements.

The heavy metal test panel detects and measures specific, potentially toxic metals in the urine (hair). Heavy metals are elements that are naturally found in the Earth's crust. The human body contains some as zinc, iron and copper. They are necessary for the normal function of the body, as long as they are not present in toxic quantities. Heavy metal poisoning occurs when the soft tissues of the body absorb too much of a particular metal. This leads to a number of health problems and can be the cause of serious diagnoses. The symptoms of heavy metal poisoning vary depending on the type of metal.

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.

Hereditary fructose intolerance (HFI) is an autosomal recessive disorder where fructose metabolism is impaired. It results from a deficiency of the enzyme aldolase B. HFI is caused by mutations in the ALDOB gene (9q22.3) resulting in reduced enzyme function. Affected individuals are asymptomatic until they start taking fructose, sucrose, or sorbitol.

HFI should not be confused with a condition called fructose malabsorption. In it, the intestinal cells cannot normally absorb fructose, which leads to bloating, diarrhea or constipation, flatulence, and abdominal pain.

The test is needed if fructose intolerance is suspected. Genetic analysis makes it possible to avoid invasive liver biopsy by detecting at-risk patients carrying a specific mutation.

Celiac disease is an autoimmune disease occurring in genetically predisposed people of different ages. It is due to intolerance to gluten and other similar proteins contained in wheat, rye, oats and barley. As a result, chronic inflammation, atrophy of the villis and thinning of the lining of the small intestine occur.

In patients with a predisposition to celiac disease (high and medium risk), it may be triggered by surgery, pregnancy, viral infections (with rota- and adenoviruses), stressful situations, etc.

The test is prescribed when celiac disease is suspected and positive immunological markers for this disease exist. Genetic analysis makes it possible to detect patients at risk without performing an invasive small bowel biopsy.

The test is an analysis of a genetic variant affecting the production of the enzyme lactase, encoded by the LCT gene. This enzyme is responsible for the lactose breakdown and its reduced function leads to impaired breakdown and absorption of the lactose in milk. The increased risk of lowered lactase function leads to a risk of developing lactose intolerance and the need to reduce the intake of milk and dairy products.

Diamine oxidase is an important endogenous enzyme responsible for the metabolism of histamine in the body. Diamine oxidase is found mainly in the small intestine, liver, kidneys, and blood granulocytes. The activity of the DAO enzyme regulates the rate of histamine metabolism. Its measurement can be associated with histamine intolerance. In case of DAO deficiency or inhibition of its activity, histamine is not metabolized normally.

Serotonin is known as an inhibitory neurotransmitter and as a precursor to melatonin. In the central nervous system, it has a mood-lifting, relaxing and antidepressant effect. It supports learning and memory. Peripherally, serotonin plays a role in blood clotting (platelets) and wound healing. Serotonin is also very important for the intestines as it affects peristalsis, resorption and immune activity. 95% of serotonin is formed in the intestines. Appetite control depends on it: high levels of serotonin promote a feeling of satiety, while low levels are characterized by increased feeling of hunger and can lead to eating disorders.

The panel includes quantification of histamine and zonulin, which at high values can cause intestinal permeability. This can lead to inflammatory bowel disorders and autoimmune diseases, food intolerances, infections, reduced colonization, and other eating disorders.

 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.).