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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 |
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| CPT Code(s): |
83891(1), 83898(3), 83904(3), 83909(1), 83912(1) |
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| Shipping Considerations |
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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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