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Test Catalog
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Partial CMT- Axonal Only |
#413 |
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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: |
413 |
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| Profile includes: |
Connexin32 Evaluation, GARS (CMT2D) DNA Sequencing Test, GDAP1 DNA Sequencing Test , HSPB1 (CMT2F) DNA Sequencing Test, LMNA (CMT2B1) DNA Sequencing Test, MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, RAB7 (CMT2B) 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, MFN2, LMNA, RAB7, GARS, and HSPB1 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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| Patents: |
5,691,144, 6,001,576, 5,645,993, 5,876,927, 5,723,593 |
| 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(73), 83900(1), 83901(9), 83904(73), 83909(74), 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: |
15ml |
| 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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