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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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| Patents: |
5,306,616, 5,599,920, 5,780,223 |
| 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(4), 83904(4), 83909(4), 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: |
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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