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Test Catalog
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Autosomal Dominant Hypocalcemia (ADH) Evaluation |
#825 |
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| Type of Disorder: |
Bartter Syndrome |
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| 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. |
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| Disease(s) tested for: |
Bartter Syndrome, Autosomal Dominant Hypocalcemia |
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| Test Details |
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| Test Code: |
825 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations (including point mutations, deletions, insertions, and rearrangements) in the coding sequences of CASR |
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| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) |
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| Reference Value: |
No sequence variation detected |
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| Patents: |
5,688,938 |
| CPT Coding |
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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.
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| Stacked CPT Code(s): |
83891(1), 83898(11), 83904(11), 83909(11), 83912(1) |
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| Shipping Considerations |
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| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL (pediatric minimum: 2 mL) |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday. |
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| Test Turnaround: |
2-3 weeks |
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