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Test Catalog
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Partial CMT Evaluation - Demyelinating Only |
#407 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with a severe demyelinating neuropathy, NCVs are typically < 38 m/s |
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| Disease(s) tested for: |
Charcot-Marie Tooth disease, Type 4 (CMT4), Hereditary Motor-Sensory Neuropathy (HMSN) |
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| Test Details |
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| Test Code: |
407 |
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| Profile includes: |
Connexin32 Evaluation, EGR2 DNA Sequencing Test, GDAP1 DNA Sequencing Test , LITAF/SIMPLE DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Periaxin DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, SH3TC2 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 duplications/deletions in PMP22, deletions in CX32 (GJB1), and sequence variations in PMP22, MPZ (P0), EGR2, CX32 (GJB1), NFL, LITAF/SIMPLE, and SH3TC2 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, 5,306,616, 5,645,993, 5,780,223, 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(62), 83900(2), 83901(26), 83904(62), 83909(64), 83912(1), 83914(30)
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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 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. |
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| Test Turnaround: |
21-28 days |
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