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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 |
| 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(23), 83904(23), 83909(23), 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: |
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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