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Test Catalog
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Caveolin 3 DNA Sequencing Test |
#566 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
CAV3 mutations have been associated with a variety of clinical syndromes including limb girdle muscular dystrophy (most common), rippling muscle disease, hyperCKemia, hypertrophic cardiomyopathy, distal myopathy. |
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| Indications for Testing: |
See Typical Presentation. Also, family members of patients with previously identified CAV3 mutations. |
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| Disease(s) tested for: |
Limb girdle muscular dystrophy, LGMD1C |
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| Test Details |
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| Test Code: |
566 |
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| Profiles that contain this test: |
Limb Girdle Muscular Dystrophy Evaluation
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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 sequence variations in the Caveolin 3 gene. |
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| Methodology: |
PCR and DNA sequencing |
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| Reference Value: |
No sequence variations detected |
| 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(3), 83904(3), 83909(3), 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: |
15ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Must be refrigerated |
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| Shipping Conditions: |
Ship at room temperature or on ice pack. Ship Monday - Thursday only. |
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| Test Turnaround: |
4 - 6 weeks |
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