|
Test Catalog
|
|
Dominant CMT Evaluation |
#414 |
|
| Type of Disorder: |
Peripheral Neuropathy |
|
| Typical Presentation: |
Individuals with a clear dominantly inherited neuropathy in the family, symptoms can be from mild to severe with variable NCVs, testing includes genes that result in both autosomal and X-linked dominant inheritance patterns |
|
| Disease(s) tested for: |
Charcot-Marie-Tooth disease (CMT) |
|
| Test Details |
|
| Test Code: |
414 |
|
| Profile includes: |
Connexin32 Evaluation, EGR2 DNA Sequencing Test, GARS (CMT2D) DNA Sequencing Test, HSPB1 (CMT2F) DNA Sequencing Test, LITAF/SIMPLE DNA Sequencing Test, MFN2 DNA Sequencing Test, Myelin Protein Zero (MPZ) DNA Sequencing Test, Neurofilament Light (NFL) DNA Sequencing Test, PMP22 DNA Sequencing Test, PMP22 Duplication/Deletion DNA Test, RAB7 (CMT2B) DNA Sequencing test
|
|
| Informed Consent Required: |
Yes |
|
| Medicare ABN Required: |
No |
|
| Special Notes: |
Females with connexin32 (GJB1) mutations may present with a phenotype similar to their male counterparts, thus resembling an autosomal dominant inheritance pattern. This panel helps separate autosomal and X-linked dominant inheritance patterns. |
|
| Technical Information |
|
| Utility: |
Detects duplications/deletions in the PMP22 gene, and sequence variations in PMP22, MPZ (P0), EGR2, CX32 (GJB1), NFL, LITAF/SIMPLE, MFN2, GARS, RAB7, and HSPB1 genes |
|
| Methodology: |
Multiplex Ligation-dependent Probe Amplification, Southern blot, Polymerase Chain Reaction (PCR) and DNA Sequencing |
|
| Reference Value: |
Please see individual test listings |
|
| Patents: |
5,691,144, 6,001,576, 5,306,616, 5,645,993, 5,780,223, 5,876,927, 5,723,593 |
| CPT Coding |
|
|
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.
|
| Stacked CPT Code(s): |
83891(1), 83898(68), 83900(2), 83901(26), 83904(68), 83909(70), 83912(1), 83914(30)
|
|
| Shipping Considerations |
|
| Please label each specimen tube with two forms of patient identification. These forms of identification must also appear on the requisition form. |
|
| Preferred Specimen Requirements |
| Type: |
Whole blood |
| Minimum Volume: |
15ml |
| Collection Tube: |
Lavender (EDTA) |
|
| Storage Conditions: |
Room temperature, avoid freezing |
|
| Shipping Conditions: |
Room temperature, avoid freezing. Ship same day, must arrive Monday - Friday. |
|
| Test Turnaround: |
21-28 days |
|
