Phenylketonuria (PKU) results from the autosomal recessive inheritance of mutations in the PAH gene. This condition leads to impaired phenylalanine breakdown, causing the amino acid to accumulate in the blood.
Accumulated phenylalanine can affect brain development and, if untreated, may lead to learning difficulties, intellectual disability, and nervous system complications. Therefore, carrier screening is critical for the prevention of the disease.
Feature | Details |
Method | NGS / MLPA |
Coverage | PAH gene |
Sample Requirement | Blood (EDTA Tube) Amniotic Fluid CVS |
Turnaround Time (TAT) | 21 days |
*For a detailed sample collection, please contact our team.
19 Mayıs Mah. Çoruh Sok. No:32/1 Fulya, 34394 Şişli / Istanbul, Turkey
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