Hypophosphatasia and Hypophosphatemic Rickets Panel
Also known as: Familial Hypophosphatemic Rickets, HRP, Hypophosphatemic Rickets, Hypophosphatemic Vitamin D-Resistant Rickets (HPDR), Phosphate Diabetes
Use
Diagnostic testing
Special Instructions
This assay is currently not available for patients residing in New York state. Samples must be maintained at room temperature or refrigerated at 4°C and must not be frozen. Collection should follow standard procedures specific to specimen type: standard phlebotomy for whole blood, kit instructions for oral swab, or coordination with MNG Genetic Services for extracted DNA.
Limitations
This NGS-based assay does not consistently detect mosaicism or rule out large chromosomal rearrangements unless the changes are in copy number. Large chromosomal aberrations like inversions and rearrangements that don't affect copy number and repeat expansions are not detected. The possibility exists for false positive or negative results, influenced by various factors such as mislabeled samples, pseudogene interference, blood transfusions, and insufficient information about rare genetic variants. Certain types, such as those affecting mRNA expression, are not detected by this assay.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 51969-4
- 51969-4
- 50397-9
- 8251-1
- 80563-0
Result Turnaround Time
14-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
4 mL
Minimum Volume
2 mL
Container
Lavender-top (EDTA) tube
Collection Instructions
Standard phlebotomy
Storage Instructions
Maintain at room temperature or refrigerate at 4°C. Do not freeze.
Causes for Rejection
Frozen or hemolyzed specimen; quantity not sufficient for analysis; improper container
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 14 days |
| Refrigerated | 30 days |
| Frozen | Do not freeze |