PHEX Gene Sequencing
Also known as: Familial Hypophosphatemic Rickets, Hypophosphatemic Rickets, Hypophosphatemic Vitamin D-Resistant Rickets (HPDR), Phosphate Diabetes, Vitamin D-Resistant Rickets
Use
Diagnostic testing
Special Instructions
This assay is not available in New York state. Contact MNG Genetic Services for additional information regarding the handling of extracted DNA specimens.
Limitations
The test does not consistently detect mosaicism, large chromosomal aberrations without copy number changes, or repeat expansions. Limitations exist in detecting variants due to issues like pseudogene interference or mislabeled samples. Interpretation of gene variant significance may change as new clinical information is obtained.
Methodology
NGS
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; maintain specimen 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 |