CASR Gene Sequencing and Del/Dup
New York
Approved
Genes
Conditions
- Familial Hypocalciuric Hypercalcemia (FHH)
- Familial Isolated Hyperparathyroidism (FIHP)
- Familial Isolated Hypoparathyroidism (FIH)
- Neonatal Severe Primary Hyperparathyroidism (NSHPT)
Clinical Utility
- Distinguish FHH from primary hyperparathyroidism and other disorders of calcium homeostasis
- Confirmation of a clinical diagnosis
- To determine appropriate treatment, including avoidance of parathyroidectomy in FHH patients
- Prenatal diagnosis in pregnancies at-risk for NSHPT
Lab Method
- Capillary Sequencing
- Deletion/Duplication Analysis
Test Code
TB31
CPT Codes*
81405x1
ABN Required
No
Turnaround Time**
4 weeks
Preferred Specimen
Alternative Specimen
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Reporting times are typical and begin once the sample(s) are received at the GeneDx laboratory, but could be extended in situations outside GeneDx’s reasonable control.
Test Documents
Billing
Targeted Variant Testing