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Test Catalog
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Complete CMT Evaluation |
#400 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with a mild to severe neuropathy without a clear family history and abnormal NCVs; age of symptom onset is typically < 50 years; symmetric and slowly progressive symptoms. |
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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: |
400 |
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| Profile includes: |
Connexin32 Evaluation, EGR2 DNA Sequencing Test, FIG4 DNA Sequencing Test, GDAP1 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, 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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| 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, GDAP1, LITAF/SIMPLE, MFN2, Periaxin, SH3TC2, and FIG4 genes |
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification (MLPA), 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(106), 83900(2), 83901(7), 83904(106), 83914(11), 83909(13), 83912(1) |
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| Patents: |
5,306,616, 5,691,144, 5,780,223, 5,645,993, 6,001,576, 5,876,927, 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: |
Refrigerate |
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| Shipping Conditions: |
Ship same day. Must arrive at Athena on a weekday. |
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| Test Turnaround: |
3-4 weeks |
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