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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: |
Yes |
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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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| Patents: |
5,691,144, 6,001,576 |
| 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(3), 83900(1), 83901(9), 83904(3), 83909(4), 83912(1), 83914(11)
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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: |
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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