Inherited Muscular Dystrophy Gene Panel, Varies
Use
The Inherited Muscular Dystrophy Gene Panel is essential for establishing a molecular diagnosis in patients with muscular dystrophy by identifying variants within genes known to be associated with the disease. This allows for predictive testing of at-risk family members. Identifying a disease-causing variant can assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling.
Special Instructions
For patients who have received a bone marrow transplant, testing instructions should be followed by calling the provided number. Saliva specimens are acceptable but not recommended due to lower DNA quality; additional specimens may be necessary if specific gene regions cannot be interrogated. Inform all New York clients that informed consent for genetic testing is required and must be documented on the request form.
Limitations
This test may not detect all types of genomic variants, and false-negative or false-positive results are possible due to next-generation sequencing limitations. Some regions with high GC content, homology, or repetitive sequences may not be effectively evaluated. Detection of deletions larger than 40 base pairs may be less reliable. For specific technical limitations associated with gene regions, refer to the Method Description or consult a laboratory genetic counselor. This test does not detect low levels of mosaicism and cannot differentiate between somatic and germline variants.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 103952-8
- 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.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |