Inherited Congenital Myasthenic Syndrome Gene Panel, Varies
Use
This test is useful for establishing a molecular diagnosis for patients with congenital myasthenic syndrome and for identifying variants within genes known to be associated with congenital myasthenic syndrome, enabling predictive testing of at‑risk family members. Identification of a disease‑causing variant may assist with diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for congenital myasthenic syndromes.
Special Instructions
Not provided.
Limitations
Next‑generation sequencing may not detect all types of genomic variants. Rare false‑negative or false‑positive results may occur. The assay uses human genome reference GRCh37/hg19. At least 99% of bases covered at >30× read depth. Sensitivity estimated above 99% for SNVs, above 94% for deletion–insertions (<40 bp), above 95% for deletions (≤75 bp) and insertions (≤47 bp). Some gene regions may not be effectively evaluated due to homology, high GC content, or repetitive sequences; non‑covered regions are noted in supplementary methodology details. Confirmation of select reportable variants may be performed by alternate methodologies based on internal criteria.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
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 in original tube; postnatal umbilical cord whole blood also acceptable.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |