Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies
Use
This test is instrumental in establishing a molecular diagnosis for patients suspected of having limb-girdle muscular dystrophy or congenital myasthenic syndrome. By leveraging next-generation sequencing, it identifies variants within 65 genes associated with these conditions. This not only aids diagnosis but also allows for predictive testing of at-risk family members, supports prognosis activities, informs clinical management, helps in assessing recurrence risks, and guides genetic counseling. This test can distinguish between limb-girdle muscular dystrophy and congenital myasthenic syndromes despite their clinical presentation overlap, improving the accuracy and timeliness of diagnosis.
Special Instructions
Not provided.
Limitations
Next-generation sequencing may not detect all genomic variants, with coverage variability in some target regions. False-negative or false-positive results could occur. The test is validated to detect 95% of deletions up to 75 base pairs and insertions up to 47 base pairs, but may be less reliable for larger delins. Regions exhibiting high guanine-cytosine content, homology, or repetitive sequences may not be effectively evaluated. Deletion/duplication analysis can miss single exon resolutions in complex genomic regions. Results could also be inaccurate in patients who have had allogeneic stem cell transplants or recent blood transfusions due to donor DNA presence. Reclassification options for previously classified variants are available, and the laboratory does not routinely review them.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
LOINC Codes
- 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.
Patient Preparation
A previous bone marrow transplant from an allogenic donor will interfere with testing.
Storage Instructions
Specimens are preferred to be received within 4 days of collection. Extraction will be attempted for specimens received after 4 days, and DNA yield will be evaluated to determine if testing may proceed.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |