Genomic Unity® Neuromuscular Disorders Analysis
Use
Genomic Unity® Neuromuscular Disorders Analysis is designed to identify genetic variants that cause neuromuscular disorders. This test is intended for patients with clinical symptoms consistent with muscular dystrophies, congenital myopathies, and congenital myasthenic syndromes. The test focuses on more than 130 genes associated with neuromuscular disorders, providing a comprehensive view that can replace a battery of tests, including targeted gene panels and PCR tests for short tandem repeat expansions.
Special Instructions
Not provided.
Limitations
The test does not fully cover the EMD, HNRNPDL, HSPG2, NEB, and SELENON genes, limiting the ability to detect all pathogenic variants. Additionally, the NEB and TTN genes contain non-unique regions, which may hinder the accurate assignment of pathogenic variants, thus limiting interpretation.
Methodology
NGS (WGS)
Biomarkers
Result Turnaround Time
4 weeks
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
5ml
Minimum Volume
Not provided
Collection Instructions
Refer to Variantyx blood specimen requirements.