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Test Catalog
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Dominant CMT Evaluation |
#414 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with a clear dominantly inherited neuropathy in the family, symptoms can be from mild to severe with variable NCVs, testing includes genes that result in both autosomal and X-linked dominant inheritance patterns |
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| Disease(s) tested for: |
Charcot-Marie-Tooth disease (CMT) |
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| Test Details |
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| Test Code: |
414 |
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| Profile includes: |
Connexin32 Evaluation, EGR2 DNA Sequencing Test, LITAF/SIMPLE DNA Sequencing Test, MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, RAB7 (CMT2B) DNA Sequencing test, GARS (CMT2D) DNA Sequencing Test, HSPB1 (CMT2F) 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: |
Females with connexin32 (GJB1) mutations may present with a phenotype similar to their male counterparts, thus resembling an autosomal dominant inheritance pattern. This panel helps separate autosomal and X-linked dominant inheritance patterns. |
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| Technical Information |
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| Utility: |
Detects duplications/deletions in the PMP22 gene, and sequence variations in PMP22, MPZ (P0), EGR2, CX32 (GJB1), NFL, LITAF/SIMPLE, MFN2, GARS, RAB7, and HSPB1 genes |
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification, Southern blot, 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(11), 83898(68), 83900(2), 83901(7), 83904(68), 83909(12), 83912(1), 83914(11), |
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| Patents: |
5,306,616, 5,691,144, 5,780,223, 5,645,993, 6,001,576, & 5,876,927 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 ml |
| Collection Tube: |
Lavender (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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