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Test Catalog
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| Type of Disorder: |
Neuromuscular Disorders |
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| Typical Presentation: |
Adults may present with a range of symptoms from cataracts to significant muscle wasting, cardiac complications, ptosis and myotonia, infants may present with severe hypotonia, skeletal deformities, developmental delay and mental retardation |
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| Disease(s) tested for: |
Myotonic dystrophy, Type 1 |
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| Test Details |
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| Test Code: |
108 |
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| Profiles that contain this test: |
Complete Myotonia Evaluation, Complete Myotonic Dystrophy Evaluation
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete Myotonic Dystrophy Evaluation, #126. Prenatal testing is available. |
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| Technical Information |
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| Utility: |
Detects CTG repeat expansions in the muscle protein kinase (DMPK) gene |
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| Methodology: |
Polymerase Chain Reaction (PCR), Fragment analysis and Southern blot |
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| Reference Value: |
Normal: 5-37 CTG trinucleotide repeats |
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| CPT Code(s): |
83891(1), 83898(1), 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: |
14-21 days |
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