|
Test Catalog
|
|
Complete Dejerine-Sottas Neuropathy Evaluation |
#286 |
|
| Type of Disorder: |
Peripheral Neuropathy |
|
| Typical Presentation: |
Children with a severe hereditary motor and sensory neuropathy, NCVs are usually < 38 m/s and the symptoms are symmetric |
|
| Disease(s) tested for: |
Dejerine-Sottas syndrome, Hereditary Motor Sensory Neuropathy, Type 3 |
|
| Test Details |
|
| Test Code: |
286 |
|
| Profile includes: |
EGR2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Periaxin DNA Sequencing Test, PMP22 DNA Sequencing Test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
N/A |
|
| Technical Information |
|
| Utility: |
Detects sequence variations in the PMP22, MPZ (P0), EGR2 and Periaxin genes |
|
| Methodology: |
Polymerase Chain Reaction (PCR) and DNA sequencing |
|
| Reference Value: |
No sequence variation detected |
|
| CPT Code(s): |
83891(1), 83898(24), 83904(27), 83909(1), 83912(1) |
|
| Patents: |
5,876,927, 7,273,698 |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20ml |
| Collection Tube: |
Lavender (EDTA) |
|
| Storage Conditions: |
Room temperature, avoid freezing |
|
| Shipping Conditions: |
Overnight, room temperature |
|
| Test Turnaround: |
14-21 days |
|
|
[back to top]
|
