|
Test Catalog
|
|
SH3TC2 DNA Sequencing Test |
#224 |
|
| Type of Disorder: |
Peripheral Neuropathy |
|
| Typical Presentation: |
Characterized clinically by frequent and severe scoliosis, Nerve biopsy shows extended formation of Schwann cells and onion bulbs consisting only of basal membranes, Mean NCV 22 m/s |
|
| Disease(s) tested for: |
Charcot-Marie-Tooth diseas, Type 4C |
|
| Test Details |
|
| Test Code: |
224 |
|
| Profiles that contain this test: |
Complete CMT Evaluation, Partial CMT Evaluation - Demyelinating Only, Partial CMT Evaluation - Recessive Only
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Technical Information |
|
| Utility: |
Detects mutations in the SH3TC2 gene |
|
| Methodology: |
DNA Sequencing, Polymerase Chain Reaction (PCR) |
|
| Reference Value: |
No sequence variation detected |
|
| CPT Code(s): |
83891(1), 83898(21), 83904(21), 83909(1), 83912(1) |
|
| Shipping Considerations |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
20 mL |
| Collection Tube: |
Lavender top (EDTA) |
|
| Storage Conditions: |
Room temperature, avoid freezing |
|
| Shipping Conditions: |
Room temperature, ship same day. Must arrive at Athena within 48 hours after blood is drawn. |
|
| Test Turnaround: |
14-21 days |
|
|
[back to top]
|
