Hereditary diseases - monogenic diseases caused by mutations in a specific gene.
Biomaterial: venous blood Time frame : 14 working days
Hemochromatosis | Price 20'000 tenge |
Konovalov-Wilson disease | Price 20'000 tenge |
Gilbert syndrome | Price 25'000 tenge |
Cystic fibrosis (36 points) | Price 46'000 tenge |
Prevalence of hereditary diseases.
According to the WHO, 5% of children are born with a hereditary pathology
- 1% are born with gene mutations
- 0.5% with chromosomal abnormalities
- 3%-3.5% with diseases with a pronounced hereditary component.
- 40%-50% of early childhood mortality (perinatal) and disability since childhood are caused by hereditary factors, and 30% of hospital beds in children's hospitals are occupied by patients with hereditary pathologies.
Hereditary disease | Briefly about the disease (frequency, manifestation, prognosis) | Why a genetic test is needed |
Wilson-Conovalov disease (hepatocerebral dystrophy) | AR (Autosomal recessive)-disease (carrier 1 in 90 people), the metabolism of copper is disturbed and there is an increase in its concentration in various organs: the brain, kidneys, liver and cornea. It manifests itself at the age of 10-25 years, more often at school age (10-16 years) in the form of liver damage, in later - neurological disorders; b/c ceruloplasmin is reduced; on eye examination, pigmented Kayser-Fleischer rings on the iris. | Analysis is needed for accurate diagnosis (mutations in the ATP7B gene encoding the copper-transporting adenosine triphosphatase protein). |
Gilbert syndrome (hereditary benign unconjugated hyperbilirubinemia (80-100 µmol/L)) |
Frequency ranges from 2-5% to 36%. Mutations in the UGT1A1 gene lead to a 25% decrease in the activity of the uridine diphosphate glucuronyltransferase 1 enzyme in hepatocytes, which accounts for the clinical picture. This enzyme (UDF-GT1) is involved in the metabolism of some drugs, i.e. the manifestation of the disease with the development of toxic reactions when taking - anabolic steroids, glucocorticoids, androgens, rifampicin, cimetidine, chloramphenicol, streptomycin, sodium salicylate, ampicillin, caffeine, ethinylestradiol, paracetamol, irinotecan (used in the treatment of colorectal cancer) is possible. | Analysis is recommended before prescribing drugs with hepatotoxic effects. |
Hemochromatosis (pigmentary cirrhosis, bronchial diabetes) | AR disease (incidence of 1 in 135 to 330 people), mutations in the HFE gene lead to increased absorption of iron in the gastrointestinal tract and its accumulation in body tissues - liver, skin, heart, joints, pituitary gland with subsequent cell damage and overgrowth of connective tissue . Age of onset of the disease 40 - 60 years in men, in the postmenopause in women. Clinic: weakness, fatigue, hyperpigmentation, diabetes mellitus, cirrhosis, cardiomyopathy. | Diagnosis of carriage is important for prevention of clinical manifestations (control of serum ferritin levels: normal to 50 ng/ml, if necessary therapy - bloodletting) |
Cystic fibrosis | AR disease (incidence 1:5000 newborns), mutation in the CFTR gene leads to damage of exocrine glands: bronchopulmonary system, pancreas, liver, sweat, saliva, sex glands, intestine (increased secretion viscosity, chloride and sodium concentration) . Age of onset: from newborn to adult. Lethality is high, more often from respiratory failure. Average age of survival in the United States is 33 years. Treatment is symptomatic. | Analysis is important for adequate therapy and prediction of future progeny in affected families. We identify the 36 most frequent mutations in the gene |
Identification of a particular genetic variant of a hereditary disease is necessary for:
- Determination of the features of clinical manifestations and the course of the disease
- Determining the type of inheritance of the disease and calculating the risk of having a sick child
- Planning of preventive measures in burdened families
How are genetic diseases inherited?
Some genetic diseases are caused by mutations in a single gene. These genetic diseases are usually inherited by one of the following variants: