Cytogenetic laboratory

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Laboratory staff:

• Laboratory assistant doctor Ratnikova Valentina Nikolaevna
• Doctor laboratory geneticist Chichaykina Tatiana Gennadievna
• Paramedic-laboratory assistant  Mammadova Elena Rashidovna
• Ivakina  Ekaterina Vasilyevna

Karyotype is a set of features (number, size, shape, etc.) of a complete set of chromosomes inherent in the cells of a given biological species of a given organism. Karyotype analysis or karyotyping is a test that evaluates the number and structure of human chromosomes in order to identify abnormalities in the structure and number of chromosomes that can cause infertility, hereditary disease and the birth of a sick child.

There are 46 chromosomes in the human karyotype. 44 (or 22 pairs) are autosomes that are present in somatic cells and are the same in men and women. And 2 are the sex chromosomes that determine a person's gender. A woman has the same type of sex chromosomes (XX), a man has different ones (XY). Accordingly, the female karyotype is 46, XX; the male karyotype is 46, XY. The chromosome set contains all the genetic information about its owner. It remains unchanged throughout a person's life. The karyotype of the unborn child carries half of the genetic information from the father, and half from the mother.

The study of the karyotype belongs to the group of cytogenetic methods. There are 2 types of karyotyping: prenatal – examination of the chromosomal set of the fetus; study of the patient's genetic material.

To determine the karyotype of a person, peripheral blood lymphocytes are usually used. To do this, blood is taken from a vein according to a standard procedure.

• It should be borne in mind that viral infections (ARVI), antibiotic therapy, severe hypotrophy of the patient, alcohol intake reduce the likelihood of obtaining a study result. Blood donation for this type of study is recommended no earlier than 2 weeks after the disease.
• On the eve of the examination, a light dinner and a good rest are recommended.
• A light breakfast is recommended before the study.
• Blood sampling is carried out before X-ray, ultrasound and physiotherapy procedures.
• the study is carried out by appointment in the direction of a doctor of genetics MGK.

Indications for karyotyping:

• violation of reproductive function of unclear etiology in men and women, spontaneous abortions in early pregnancy, stillborn or early dead children, primary amenorrhea male and female sterility with the exception of gynecological diseases in women.
• the presence of multiple congenital malformations in the child.
• delay in the mental and physical development of the child.
• suspicion of chromosomal disease based on clinical symptoms;
• suspected syndromes characterized by chromosomal instability.
• hemoblastoses and oncological diseases.

Unfortunately, it is not uncommon for a pregnancy to stop developing at some stage and be interrupted. Most often it occurs in the first trimester up to 12 weeks. The frequency of chromosomal abnormalities in spontaneous miscarriages and undeveloped pregnancy reaches from 55% to 70%. Congenital malformations of the fetus are caused by chromosomal aberrations in 45%-55% of cases. Cytogenetic examination (determination of the chromosome set) allows to clarify the cause of an undeveloped pregnancy. The study is performed on chorionic and placental villi after termination of pregnancy at 3-18 weeks.

Contact phone number of the laboratory: 8(8342) 76-42-99, from 8.00 to 15.00.