Hypophosphatasia via the ALPL Gene
Use
This test is intended for individuals with relevant clinical features suggesting a diagnosis of hypophosphatasia or those with reduced serum alkaline phosphatase activity or elevated urine phosphoethanolamine. It is also applicable for reproductive partners of individuals carrying a known pathogenic variant in the ALPL gene, as well as family members of individuals with known variants in the ALPL gene. The test aids in confirming a clinical diagnosis and identifying carrier status for informed reproductive decisions.
Special Instructions
Not provided.
Limitations
The test may not detect all genetic variants associated with hypophosphatasia, especially if they are outside the captured regions or if they affect gene regulation. Variants of uncertain significance may be identified, which might not provide a clear direction for diagnosis or treatment.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
7-16 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided