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Test Catalog
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Emery-Dreifuss Muscular Dystrophy Evaluation |
#669 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Emery-Dreifuss muscular dystrophy is characerized by the co-existence of a clinical triad beginning in early childhood including 1) Early joint contractures in the elbow, Achilles hill or spine, 2) slowly progressive muscle weakness and wasting in the scapulo-peroneal area, and 3) Cardiac involvment with wide clinical variability that may present after the second decade. Thirty ? five percent of EDMD cases are associated with mutations in EMD or LMNA. Recently, mutations in FHL1 have been reported to cause EDMD. FHL1 has been shown to be heavily expressed in skeletal and cardiac muscle. |
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| Indications for Testing: |
Symptomatic individuals consistent with Emery-Dreifuss Muscular Dystrophy |
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| Disease(s) tested for: |
Emery-Dreifuss Muscular Dystrophy |
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| Test Details |
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| Test Code: |
669 |
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| Profile includes: |
EMD Sequencing Test, Lamin A/C DNA Sequencing Test, FHL1 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 EMD, LMNA/C, and FHL1 genes |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No sequence alteration detected in EMD, LMNA/C, and FHL1 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(23), 83904(23), 83909(23), 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: |
4-10 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: |
21-28 days |
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