Karyotyping in postnatal diagnosis

Test covered by the reimbursement:
YES
Clinical expertise code:
208
Test without reimbursement:
YES
Gender:
Woman/Man
Material:
Peripheral blood
Turnover time:
8 weeks
STATIM:
4 weeks

Material:

Peripheral blood for culture | 1x 4 ml of non-clotting blood in heparin
Storage after examination: 3 days 2 – 8°C

Quick test description:

Karyotyping to determine numerical and structural chromosomal aberrations (deviations) in postnatal diagnosis.

Test details:

The reason for collection is to determine the karyotype of the patient tested. During cytogenetic examination of karyotype from blood, we culture T cells. We stimulate T-cell division by plant lectin, phytohaemagglutinin (PHA). Using microscopy, we evaluate the number and structure of individual chromosomes. We do not perform blood sampling after transfusion (safe time interval of at least 6 months) due to the influence on the test results, as the karyotype could correspond to the karyotype of the donor, not the patient.

Indication

abnormal patient phenotype, growth and development problems in the patient, mental retardation of the patient or in the patient’s family, stillbirth and neonatal death, repeated spontaneous abortions, infertility or repeated IVF failures, positive family history of chromosomal rearrangements