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Test Catalog
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Complete Myotonic Dystrophy Evaluation |
#126 |
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Adults may present with myotonia, ptosis and muscle wasting. Other symptoms may include frontal balding, cataracts, cardiac complications, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation. |
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| Disease(s) tested for: |
Myotonic dystrophy |
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| Test Details |
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| Test Code: |
126 |
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| Profile includes: |
DM2 DNA Test, DM1 DNA Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
N/A |
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| Technical Information |
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| Utility: |
Detects CTG repeat expansions in the DMPK gene, and CCTG repeat expansions in the ZNF9 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
DM1 normal: 5-37 CTG repeats; DM2 normal: Less than 177 base pairs |
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| CPT Code(s): |
83891(1), 83898(2), 83909(1), 83912(1) |
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| Patents: |
5,955,265 & 5,977,333 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
21-28 days |
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