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Test Catalog
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CLCN1 DNA Sequencing Test |
#128 |
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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-dystrophic, non-syndromic myotonia with mild hypertrophy. |
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| Disease(s) tested for: |
Myotonia congenita |
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| Test Details |
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| Test Code: |
128 |
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| Profiles that contain this test: |
Complete Myotonia Evaluation, Early Onset Myotonia Evaluation
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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 point mutations in the CLCN1gene. |
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| Methodology: |
DNA sequencing |
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| Reference Value: |
No mutation detected |
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| CPT Code(s): |
83891(1), 83898(23), 83904(23), 83909(1), 83912(1) |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| 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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