Comprehensive Neuromuscular Gene Panel, Varies

Casandra

Casandra Test Code MC87843Version 1 (DRAFT)

Performing Lab

Lab Mayo Clinic LabLab Test ID MUPANCPT Code 81443

Comprehensive Neuromuscular Gene Panel, Varies

Clinical Use

Use

This test is particularly useful for establishing a molecular diagnosis for patients who present with neuromuscular disorders. By identifying variants within the 215 genes analyzed, this test allows for predictive testing in at-risk family members. It assists in diagnosis, prognosis, clinical management, recurrence risk assessment, familial screening, and genetic counseling for a comprehensive range of neuromuscular disorders.

Special Instructions

Not provided.

Limitations

Next-generation sequencing (NGS) may not detect all types of genomic variants, and in rare cases, false-negative or false-positive results can occur. Technical limitations include regions of homology, high GC content, and repetitive sequences that may affect results. The test is validated to detect 95% of deletions up to 75 bp and insertions up to 47 bp, but larger insertions/deletions and complex rearrangements may not be reliably detected. The analysis is not designed to detect mosaicism or differentiate somatic from germline variants.

Test Details

New York Approved