7103. Генетика. NGS. Скринінг CarrierSeq (420 генів, метод секвенування нового покоління, кров)
Turnaround time (days): 35
33000 ₴
Important information
Important: the study is not recommended within 3 months after a blood transfusion or bone marrow transplant, as foreign DNA may be present in the blood.
Description
CarrierSeq genetic screening (420 genes, NGS, blood) is a modern genetic test based on next-generation sequencing (NGS) technology designed to detect mutations in 420 genes associated with X-linked and recessive genetic disorders (phenylketonuria, spinal muscular atrophy (SMA), cystic fibrosis, and others).
It identifies carrier status for mutations linked to hereditary diseases. The test does not diagnose a disease in the individual but assesses the risk of transmitting it to future children.
When and who needs the test?
- Family or pregnancy planning (for couples planning to have a child, particularly in the presence of a family history of genetic disorders).
- Individuals with suspected carrier status for recessive or X-linked mutations.
- Extended prenatal counseling.
Biological material
- Venous blood
Preparing for a blood test
In order to exclude factors that may affect the test results, we recommend to follow the preparation rules:
- an important condition for laboratory tests is to take blood on an empty stomach.
- 6-12 hours before the test, you should avoid eating, drinking alcohol, smoking, and limit physical activity. Drinking...