Inherited Motor Neuropathy Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) and identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members. It is also helpful in the diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for hereditary motor neuropathy.
Special Instructions
A previous bone marrow transplant from an allogenic donor will interfere with testing. Specific preparation for saliva specimen requires the patient to avoid eating, drinking, smoking, or chewing gum 30 minutes prior to collection.
Limitations
Next-generation sequencing may not detect all types of genomic variants. False-negative or false-positive results may occur. Depth of coverage may vary for some target regions, and assay performance will note failed regions. Negative results do not rule out genetic disorders. Some regions of genes may not be evaluated due to technical limitations. Detection of deletions/duplications may not be perfect, and mosaicism detection is limited. Results from patients with hematopoietic stem cell transplant may be inaccurate.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103727-4
- 62364-5
- 31208-2
- 50397-9
- 82939-0
- 69047-9
- 99622-3
- 48767-8
- 85069-3
- 48018-6
- 18771-6
Result Turnaround Time
21-35 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.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |