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Test Catalog
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Limb Girdle Muscular Dystrophy Evaluation |
#601 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Face-sparing, proximal > distal progressive myopathy with elevated CK. Age of onset ranges from infancy to late adulthood. May involve cardiac or respiratory complications. |
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| Disease(s) tested for: |
Limb girdle muscular dystrophy |
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| Test Details |
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| Test Code: |
601 |
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| Profile includes: |
Calpain 3 DNA Sequencing Test, Caveolin 3 DNA Sequencing Test, FKRP DNA Sequencing Test, Lamin A/C DNA Sequencing Test, SGCA, B, D, G DNA Sequencing Test, Dysferlin DNA Sequencing Test
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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 in the CAPN3, CAV3, DYSF, FKRP, LMNA, SGCA, B, D, G genes. |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No sequence alteration detected in CAPN3, CAV3, DYSF, FKRP, LMNA, or SGCA, B, D, G |
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| CPT Code(s): |
83891(1), 83898(124), 83904(124), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 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: |
5-6 weeks |
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