| Test code: | 825 |
| Type of disorder: | Hereditary Renal Tubular Disorders |
| Disease(s) tested for: | Autosomal Dominant Hypocalcemia |
| Genes Included: | CASR, |
| Informed Consent Required: | This test requires physician attestation that patient consent has been received |
| Clinical Significance: | Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR Typical Presentation: Activating mutations range from mildly activating to strongly activating and lead to the correspondingly milder ADH and the more severe Bartter Syndrome (BS) type 5. ADH is characterized by lifelong hypocalcemia with high-normal or elevated urinary calcium excretion. Individuals with BS type 5 present with hypercalciuric hypocalcemia, and variably, with hypomagnesemia, potassium wasting, hypokalemia, metabolic acidosis, hyperreninemic hyperaldosteronism, and increased urinary prostaglandin excretion. |
| Methodology: | Sanger Sequencing |
| Reference Range: | No sequence variation detected |
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.
| CPT: | 81405(1) |
Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form.
| Specimen Type: | Whole blood |
| Specimen Stability: | Room temperature: 10 days, Refrigerated: 10 days, Frozen: Unacceptable, |
| Specimen Requirements: | 8 mL (6 mL minimum) whole blood collected in two (lavender-top) EDTA tubes. Pediatric (0-3 years): 2 mL (1 mL minimum) |
| Instructions: | Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood |
| Transport Temperature: | Room temperature |
| Set-up/Analytic Time: | 14-28 days |
Home