Calcium-Sensing Receptor (CASR) Gene Sequencing Analysis
Use
Diagnostic testing. CASR gene sequencing may be useful in the diagnostic workup of familial hypocalciuric hypercalcemia (FHH), autosomal dominant hypocalcemia, neonatal severe primary hyperparathyroidism (NSPHT), autosomal dominant hypoparathyroidism (ADH), Bartter syndrome, or kidney stones.
Special Instructions
This test is not available for patients in New York state due to state-specific regulations. It is crucial for clinicians to ensure specimens are not frozen before submission, and to contact MNG Genetic Services for any procedures involving extracted DNA.
Limitations
The assay is limited in its ability to detect mosaicisms, large chromosomal rearrangements that do not alter copy number, and repeat expansions. False positives or negatives may arise from factors like pseudogene interference, mismatched samples, or insufficient variant data availability. This method may also miss low-level heteroplasmic mutations in cases involving mitochondrial DNA. Variants' clinical significance is often reassessed as new data becomes available, which may alter interpretation.
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 82534-9
- 82534-9
- 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 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 |