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Test Catalog
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PMP22 DNA Sequencing Test |
#247 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
CMT with a family history of PMP22 mutations identified in a proband |
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| Disease(s) tested for: |
Charcot-Marie-Tooth disease, Type 1A (CMT1A), CMT1E (CMT Type 1E) |
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| Test Details |
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| Test Code: |
247 |
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| Profiles that contain this test: |
Carpal Tunnel Syndrome Evaluation, Chronic Demyelinative Neuropathy Profile, Complete CMT Evaluation, Complete Dejerine-Sottas Neuropathy Evaluation, Complete HNPP Evaluation, Dominant CMT Evaluation, Entrapment Neuropathy Evaluation, Partial CMT Evaluation - Demyelinating Only
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Unless a family member has been confirmed by prior testing, it is recommended that this test be done as part of the Complete CMT Evaluation, #400 |
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| Technical Information |
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| Utility: |
Detection of sequence variations in the PMP22 gene |
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| Methodology: |
Polymerase Chain Reaction (PCR) and DNA Sequencing |
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| Reference Value: |
No sequence variation detected |
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| CPT Code(s): |
83891(1), 83898(4), 83904(4), 83909(1), 83912(1) |
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| Patents: |
N/A |
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| Shipping Considerations |
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| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
10ml |
| 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: |
14-21 days |
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