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
Not provided.
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
CASR
Gene
LOINC Codes
- 82534-9 - CASR gene Full Mut Anl Bld/T Seq
- 82534-9 - CASR gene Full Mut Anl Bld/T Seq
- 50397-9 - Mol dx interp Bld/T Ql
- 8251-1 - Service Cmnt-Imp
- 80563-0 - Report
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 |
Other tests from different labs that may be relevant