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Test Catalog
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Complete HNPP Evaluation |
#243 |
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| Type of Disorder: |
Peripheral Neuropathy |
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| Typical Presentation: |
Individuals with transient focal or multifocal compression neuropathy, may involve pain, numbness and mild weakness |
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| Disease(s) tested for: |
Charcot-Marie-Tooth disease, Type 1A (CMT1A), HNPP |
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| Test Details |
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| Test Code: |
243 |
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| Profile includes: |
PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test
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| Informed Consent Required: |
Yes |
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| Medicare ABN Required: |
No |
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| Special Notes: |
Use of Entrapment Neuropathy Evaluation, #296 is recommended when transthyretin amyloidosis is also suspected as a cause. |
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| Technical Information |
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| Utility: |
Detects duplications/deletions and sequence variations in the PMP22 gene. |
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| Methodology: |
Multiplex Ligation-dependent Probe Amplification, Polymerase ChainReaction (PCR) and DNA Sequencing |
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| Reference Value: |
No duplications/deletions detected, no sequence variation detected. |
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| Patents: |
5,306,616, 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), 83898(4), 83900(1), 83901(17), 83904(4), 83909(5), 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: |
Overnight, room temperature |
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| Test Turnaround: |
14-21 days |
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