|
Test Catalog
|
|
Autosomal Dominant Hypocalcemia (ADH) Evaluation |
#825 |
|
| Type of Disorder: |
Bartter Syndrome |
|
| 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. |
|
| Disease(s) tested for: |
Bartter Syndrome, Autosomal Dominant Hypocalcemia |
|
| Test Details |
|
| Test Code: |
825 |
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
Yes |
|
| Technical Information |
|
| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR |
|
| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) |
|
| Reference Value: |
No sequence variation detected |
|
| CPT Code(s): |
83891(1), 83898(11), 83904(11), 83912(1) |
|
| Patents: |
5,688,938 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Refrigerate |
|
| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday. |
|
| Test Turnaround: |
2-3 weeks |
|
|
|
