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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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| Patents: |
7,273,698 |
| 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(69), 83904(69), 83909(5), 83912(1)
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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: |
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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