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Test Catalog
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Limb Girdle Muscular Dystrophy Evaluation |
#603 |
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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: |
603 |
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| Profile includes: |
Calpain 3 DNA Sequencing Test, CAPN3 Deletion Analysis, Caveolin 3 DNA Sequencing Test, Dysferlin DNA Sequencing Test, FKRP DNA Sequencing Test, MYOT DNA Sequencing Test, SGCA Deletion Test, SGCA DNA Sequencing Test, SGCB DNA Sequencing Test, SGCD DNA Sequencing Test, SGCG Deletion Test, SGCG DNA Sequencing Test, Lamin A/C DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations in the CAPN3, DYSF, CAV3, FKRP, LMNA, MYOT, SGCA, B, D and G genes and deletions in the CAPN3, SGCA and G genes |
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| Methodology: |
DNA Sequencing, MLPA |
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| Reference Value: |
No sequence alteration detected in the CAPN3, DYSF, CAV3, FKRP, LMNA, MYOT, SGCA, B, D and G genes and no deletions detected in the CAPN3, SGCA and G genes |
| 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(133), 83900(3), 83901(61), 83904(133), 83909(136), 83912(1), 83914(67) |
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| CPT 2013: |
81404(3), 81405(5), 81406(2), 81408(1), 81479(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: |
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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