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Test Catalog
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Partial CMT- Axonal Only |
#393 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with a mild axonal neuropathy, NCVs are typically > 38 m/s with reduced action potentials |
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| Disease(s) tested for: |
Axonal peripheral neuropathy, Charcot-Marie-Tooth Disease Type 2A (CMT2A) |
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| Test Details |
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| Test Code: |
393 |
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| Profile includes: |
Connexin32 Evaluation, GDAP1 DNA Sequencing Test , MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Connexin32 (GJB1), MPZ and GDAP1 are included in this panel as they have been linked to both axonal and demyelinating phenotypes |
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| Technical Information |
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| Utility: |
Detects deletions in CX32 (GJB1), and sequence variations in MPZ (P0), CX32 (GJB1), NFL, GDAP1, and MFN2 genes
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification (MLPA), Polymerase Chain Reaction (PCR) and DNA Sequencing
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| Reference Value: |
Please see individual test listings |
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| CPT Code(s): |
83891(1), 83896(3), 83898(36), 83900(1), 83901(1), 83904(36), 83914(3), 83909(20), 83912(1) |
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| Patents: |
5,645,993, 5,691,144, 6,001,576, & 5,876,927 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender (EDTA) |
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| Alternate
Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| 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: |
21-28 days |
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