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Test Catalog
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Connexin32 DNA Sequencing Test |
#133 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
CMT with a family history of Connexin32 mutations identified in a proband |
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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: |
133 |
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete CMT Evaluation, #390. |
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| Technical Information |
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| Utility: |
Detects sequence variations in Connexin32 (CX32, GJB1) gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
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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), 83904(3), 83909(3), 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 (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| Collection Tube: |
Lavender top (EDTA) |
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| Storage Conditions: |
Room temperature, avoid freezing |
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| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
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| Test Turnaround: |
21 days |
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