|
Test Catalog
|
|
Partial CMT Evaluation - Demyelinating Only |
#407 |
|
| Type of Disorder: |
Peripheral Neuropathy |
|
| Typical Presentation: |
Individuals with a severe demyelinating neuropathy, NCVs are typically < 38 m/s |
|
| Disease(s) tested for: |
Charcot-Marie Tooth disease, Type 4 (CMT4), Hereditary Motor-Sensory Neuropathy (HMSN) |
|
| Test Details |
|
| Test Code: |
407 |
|
| Profile includes: |
EGR2 DNA Sequencing Test, GDAP1 DNA Sequencing Test , LITAF/SIMPLE DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, SH3TC2 DNA Sequencing Test, Connexin32 Evaluation
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
Connexin32 (GJB1), MPZ and GDAP1 are included in this panel as they have been linked to both axonal and demyelinating phenotypes. |
|
| Technical Information |
|
| Utility: |
Detects duplications/deletions in PMP22, deletions in CX32 (GJB1), and sequence variations in PMP22, MPZ (P0), EGR2, CX32 (GJB1), NFL, LITAF/SIMPLE, and SH3TC2 genes |
|
| Methodology: |
Multiplex Ligation-dependent Probe Amplification (MLPA), Polymerase Chain Reaction (PCR) and DNA Sequencing |
|
| Reference Value: |
Please see individual test listings |
|
| CPT Code(s): |
83891(1), 83896(11), 83898(62), 83900(2), 83901(7), 83904(62), 83914(11), 83909(10), 83912(1) |
|
| Patents: |
5,306,616, 5,691,144, 5,780,223, 5,645,993, & 6,001,576 |
|
| 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, avoid freezing. Ship same day. |
|
| Test Turnaround: |
21-28 days |
|
