Inherited Congenital Myasthenic Syndrome Gene Panel, Varies

Casandra

Casandra Test Code MC42823Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID CMSPCPT Code 81443

Inherited Congenital Myasthenic Syndrome Gene Panel, Varies

Clinical Use

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

Customization of this panel and single gene analysis for any gene present on this panel are available via the Custom Gene Panel (CGPH). For selective reflex testing, maternal cell contamination studies (MATCC) may be performed for cord blood specimens when accompanied by maternal blood at additional charge. In New York State, informed consent is required and must be documented on the request form or an electronic order.

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.

Test Details

New York Approved