The ALPL Gene Hypophosphatasia Infantile NGS Genetic DNA Test is a specialized genetic test designed to detect mutations in the ALPL gene, which are responsible for Hypophosphatasia, a rare metabolic disorder that affects bone mineralization. Early diagnosis can significantly improve the quality of life for affected infants by allowing for timely interventions.
Turnaround time for results is approximately 3 to 4 weeks. Sample types accepted include blood, extracted DNA, or one drop of blood on an FTA card. Please ensure that a clinical history of the patient is available and consider a genetic counseling session to draw a pedigree chart of family members affected with Hypophosphatasia.