Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease. It aids in identifying variants within genes known to be associated with HMSN or CMT disease, enabling predictive testing for at-risk family members. The identification of a disease-causing variant can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for these conditions.
Special Instructions
Not provided.
Limitations
The next-generation sequencing may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results may occur. Some gene regions may not be effectively evaluated due to technical limitations, such as high GC content and repetitive sequences. This test cannot detect low levels of mosaicism or differentiate between somatic and germline variants. Reclassification of variants is not regularly performed, and healthcare providers can contact the laboratory for updates on variant classifications.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103728-2 - Hrd motor & sens neuro multi Bld/T
- 62364-5 - Test performance info Spec
- 31208-2 - Specimen source
- 50397-9 - Mol dx interp Bld/T Ql
- 82939-0 - Genetic variant details Bld/T
- 69047-9 - Geneticist review
- 99622-3 - Patient resource info
- 48767-8 - Annotation comment Imp
- 85069-3 - Lab test method
- 48018-6 - Gene studied ID
Result Turnaround Time
21-28 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA) or yellow top (ACD)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |