CASR Full Gene Sequencing with Deletion/Duplication
Use
This test provides a genetic evaluation for individuals with familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and autosomal dominant hypoparathyroidism. It is useful for establishing a diagnosis and guiding management and familial screening. The test yields critical information for genetic counseling and supports prognostic assessments related to the conditions associated with activating and inactivating CASR variants.
Special Instructions
Not provided.
Limitations
Next-generation sequencing might not detect all types of genomic variants. There may be false-negatives or false-positives, especially for deletions-insertions beyond certain sizes. Certain genomic regions with high guanine-cytosine content or homology may present technical limitations. The test does not detect mosaicism or differentiate between somatic and germline variants. If testing was due to a family history, it's advisable to test an affected member initially.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
CASR
Gene
LOINC Codes
- 82534-9 - CASR gene Full Mut Anl Bld/T Seq
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
- 18771-6 - Provider signing name
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send in original tube without aliquoting.
Patient Preparation
A previous hematopoietic stem cell transplant from an allogenic donor will interfere.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |