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Phenylketonuria (PKU)

The First Step in Family Planning

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.

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