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Test Catalog
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Early Onset Myotonia Evaluation |
#207 |
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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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| Indications for Testing: |
Proximal and/or distal stiffness or weakness. Non-dystrophyc, non-syndromic myotonia with mild hypertrophy. Dystrophic but non-syndromic myotonia for differential. |
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| Disease(s) tested for: |
Myotonic dystrophy, Type 1, Myotonia congenita, Sodium Channel Myotonia |
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| Test Details |
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| Test Code: |
207 |
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| Profile includes: |
CLCN1 DNA Sequencing Test, DM1 DNA Test, SCN4A DNA Sequencing test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
Yes |
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| Special Notes: |
Consider for patients <2 years of age |
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| Technical Information |
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| Utility: |
Detects CTG repeat expansions in the DMPK gene, and point mutations in the CLCN1 and SCN4A gene |
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| Methodology: |
PCR, Fragment analysis, Southern Blot, DNA Sequencing |
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| Reference Value: |
CLCN1 and SCN4A: No mutation detected<p>
DM1 normal: 5-37 CTG repeats |
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| CPT Code(s): |
83891(1), 83898(51), 83904(51), 83909(3), 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: |
20 ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Room temperature, avoid freezing |
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| Test Turnaround: |
21-28 days |
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