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Test Catalog
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Partial CMT Evaluation - Recessive Only |
#406 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with a clear recessively inherited neuropathy in the family, NCVs are typically < 38 m/s and age of onset is usually in childhood |
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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: |
406 |
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| Profile includes: |
EGR2 DNA Sequencing Test, FIG4 DNA Sequencing Test, GDAP1 DNA Sequencing Test , Periaxin DNA Sequencing 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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| Technical Information |
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| Utility: |
Detects sequence variations in the Early Growth Response 2 (EGR2), Ganglioside-Induced Differentiation-Associated Protein 1 (GDAP1), Periaxin, SH3TC2, and FIG4 genes |
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| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83898(69), 83904(69), 83909(5), 83912(1)
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| Patents: |
7,273,698 |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| 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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