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Test Catalog
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Connexin32 Evaluation |
#143 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Conduction block, temporal dispersion MNCV 30-40 m/s in males, MNCV 10-37 m/s in severely affected males, MNCV 30?50 m/s in females, low CMAPs |
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| Disease(s) tested for: |
Charcot-Marie-Tooth disease, Type 1X (CMT1X/CMTX) |
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| Test Details |
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| Test Code: |
143 |
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| Profiles that contain this test: |
Chronic Demyelinative Neuropathy Profile, Complete CMT Evaluation, Dominant CMT Evaluation, Partial CMT Evaluation - Demyelinating Only, Partial CMT- Axonal Only
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Technical Information |
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| Utility: |
Detects mutations and deletions in the GJB1 gene |
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| Methodology: |
DNA sequencing, Multiplex Ligation-dependent Probe Amplification |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83896(3), 83898(3), 83900(1), 83901(1), 83904(3), 83914(3), 83909(2), 83912(1) |
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| Patents: |
5,691,144 & 6,001,576 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10 mL |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Refrigerate |
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| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday. |
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| Test Turnaround: |
2-3 weeks |
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