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:

Autosomal dominant TreeGene_dominant

One mutated (changed) copy of a gene from one parent is enough for their child to develop an autosomal dominant disease. Each individual with the disease usually has one parent with the same disease. Autosomal dominant disease occurs in every generation of a family with the disease.

Examples: Huntington's disease, neurofibromatosis

Autosomal recessive  TreeGene_receive Two mutated copies of the gene (one from each parent) must be present in their child for autosomal recessive disease to occur. Usually in an individual with the disease, the parents do not have the disease because each has only one copy of the mutated gene. Autosomal recessive disease usually does not occur in each generation of a family with the disease.
Examples: Cystic fibrosis,sickle cell anemia.
X-linked dominant type TreeGene_dominantX

X-linked dominant type disease is associated with a mutated gene that is localized in the X chromosome. Women are more often susceptible to X-linked diseases, since one altered and one normal copy is enough for the disease to manifest itself. If a man inherits an altered copy of the X chromosome, he will manifest the disease because men only have one X chromosome. Sick women have a 50% chance of having a sick child and the same for daughters and sons. In a sick man, all daughters will be sick and all sons will be healthy.

Examples: Fragile X chromosome

X-linked recessive type TreeGene_receiveX

The X-linked recessive type of the disease is also associated with a mutation in a gene that is localized in the X chromosome. Men are more often affected than women because they have only one copy of the X chromosome. Men who are related to each other on their mother's side are mostly affected by this type of disease. If the father is sick, all sons will be healthy and all daughters will be carriers of the X-linked recessive disease and can pass it on to their sons.

Example: Hemophilia