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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 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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| CPT Code(s): |
83891(1), 83896(8), 83900(1), 83901(6), 83909(1), 83912(1) |
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| Patents: |
5,306,616, 5,780,223, 5,645,993, & 5,599,920 |
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| Shipping Considerations |
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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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