|
Test Catalog
|
|
Complete HNPP Evaluation |
#243 |
|
| Type of Disorder: |
Peripheral Neuropathy |
|
| Typical Presentation: |
Individuals with transient focal or multifocal compression neuropathy, may involve pain, numbness and mild weakness |
|
| Disease(s) tested for: |
Charcot-Marie-Tooth disease, Type 1A (CMT1A), HNPP |
|
| Test Details |
|
| Test Code: |
243 |
|
| Profile includes: |
PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
Use of Entrapment Neuropathy Evaluation, #296 is recommended when transthyretin amyloidosis is also suspected as a cause. |
|
| Technical Information |
|
| Utility: |
Detects duplications/deletions and sequence variations in the PMP22 gene. |
|
| Methodology: |
Multiplex Ligation-dependent Probe Amplification, Polymerase ChainReaction (PCR) and DNA Sequencing |
|
| Reference Value: |
No duplications/deletions detected, no sequence variation detected. |
|
| CPT Code(s): |
83891(1), 83894(1), 83896(8), 83898(4), 83900(1), 83901(6), 83903(1), 83904(4), 83909(1), 83912(1) |
|
| Patents: |
5,306,616, 5,780,223, & 5,645,993 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
lavender top (EDTA) |
|
| Storage Conditions: |
Room temperature, avoid freezing |
|
| Shipping Conditions: |
Overnight, room temperature |
|
| Test Turnaround: |
14-21 days |
|
|
[back to top]
|
