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Test Catalog
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Complete Congenital Muscular Dystrophy (CMD) Evaluation |
#295 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
CMD is a heterogeneous group of autosomal recessively inherited disorders in which muscle weakness is present at birth or within the first few weeks of life. Affected individuals typically have hypotonia, delayed motor development, usually elevated CK levels and sometimes abnormal MRI. The genes present in the complete evaluation have been associated with the most common forms of CMD. |
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| Indications for Testing: |
Symptomatic individuals consistent with congenital muscular dystrophy. |
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| Disease(s) tested for: |
Congenital muscular dystrophy |
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| Test Details |
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| Test Code: |
295 |
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| Profile includes: |
COL6A1 DNA Sequencing Test, COL6A2 DNA Sequencing Test, COL6A3 DNA Sequencing Test, FCMD/FKTN DNA Sequencing Test, FKRP (CMD) DNA Sequencing Test, LAMA2 (CMD) DNA Sequencing Test, POMGNT1 (CMD) DNA Sequencing Test, POMT1 (CMD) DNA Sequencing Test, POMT2 (CMD) DNA Sequencing Test
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| Informed Consent Required: |
No |
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| Medicare ABN Required: |
Yes |
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| Technical Information |
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| Utility: |
Detects mutations associated with common forms of Congenital Muscular Dysrophy |
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| Methodology: |
PCR and DNA Sequencing |
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| Reference Value: |
No point mutations identified. |
| 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(286), 83904(286), 83909(286), 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: |
2-4 mL (Pediatric minimum: 2 mL) |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship within 24 hours |
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| Test Turnaround: |
21-28 days |
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