The service of chromosome set analysis
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Karyotyping is a cytogenetic method, that allows revealing deviations in the structure and numberof human chromosomes.
Karyotype is set once per life and is a part of the genetic passport. We propose an unique service of chromosome set identification using cord blood stored at the time of delivery of your child. This allows making some predictions about future child’s health.
Normal karyotype is identified in the majority of newborns, however there is an opportunity of identifying a pathology or different variants, that require medical and genetic consulting.
Karyotyping allows diagnosing chromosomal diseases (totally about 700) and changes in chromosomal structure:
1. Disease, that do not declare in the newborn period:
- chromosome structural rearrangement with normal phenotype (the rate of translocation carriers is 1:400 in Ukraine, of chromosome inversions is 1:100) decrease a risk of different diseases and require observation by different specialists.
-Sex chromosome anomalies including partial (mosaic) forms are diagnosed very rarely in the young age (Turner syndrome, the syndrome XXX, Klinefelter’s syndrome, the testicular feminization syndrome and analogous syndromes, the rate from 1:1000 to 1:5000), are not always expressed in the phenotype and require observation.
2. Diseases that can be suspected during the early neonatal period, but need to be confirmed (disorder of chromosome number and structure), accompanied by congenital malformations (lethal or vital) and stigmas of dysembryogenesis, a physical, intellectual delay.
The execution terms and price:
- as a planned work, it takes 30 calendar days since the date of arrival to the laboratory. The price of the investigation is 1100 hrn.
- As an urgent work, it takes 4-7 working days (the price of one investigation is 1100 hrn.+ an additional payment for urgency of 450 hrn.)
- In the case of chromosome translocation or other anomaly, a disclosure investigation of parents’ chromosome sets may be required for specification. This is charged separately (1300 hrn. for a pair). In such cases, medical genetic consulting is provided.
According to the investigation results, a conclusion with a karyogram (a photo and a chromosome set apportionment) are issued. Recommendations and explanations are given, if necessary.