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Test Catalog
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PMP22 Duplication/Deletion DNA Test |
#131 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
CMT with a family history of a PMP22 duplication or a deletion identified in a proband |
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| Disease(s) tested for: |
Charcot-Marie-Tooth disease, Type 1A (CMT1A) |
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| Test Details |
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| Test Code: |
131 |
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| Profiles that contain this test: |
Carpal Tunnel Syndrome Evaluation, Complete CMT Evaluation, Complete HNPP Evaluation, Dominant CMT Evaluation, Entrapment Neuropathy Evaluation, Multifocal Motor 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: |
Detects rearrangements in the PMP22 gene. This test performs both duplication and deletion analysis to detect the cause of CMT1A and HNPP. |
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification |
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| Reference Value: |
CMT1A: Normal- no duplication; HNPP: Normal- no deletion |
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| Patents: |
5,306,616, 5,599,920, 5,645,993, 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), 83900(1), 83901(17), 83909(1), 83912(1), 83914(19)
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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: |
20ml |
| 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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