Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders

Keyphrases

• Clinical Utility 100%
• Clinically Significant 100%
• Congenital Myasthenic Syndrome 33%
• Copy number Variation 66%
• Depth of Coverage 33%
• Differential Diagnosis 66%
• Disease Subtypes 33%
• Disease-specific 33%
• Duchenne muscular Dystrophy 33%
• GDAP1 33%
• Gene Analysis 100%
• Gene Panel 33%
• Gene Testing 33%
• Genetic Analysis 33%
• Genetic Testing 100%
• Mitofusin 2 (Mfn2) 33%
• Molecular Diagnostics 33%
• Muscular Dystrophy 33%
• Neuromuscular Disease 100%
• Next-generation Sequencing 66%
• Pathogenic Variants 33%
• Reclassification 33%
• RYR1 33%
• Sequence Variants 33%
• Simultaneous Detection 33%
• SPAST 33%
• Unrelated Individuals 33%
• Variants of Uncertain Significance 66%

Biochemistry, Genetics and Molecular Biology

• GDAP1 33%
• Gene Analysis 33%
• Genetic Screening 100%
• Genetics 33%
• MFN2 33%
• Next Generation Sequencing 66%
• Prevalence 33%
• RYR1 33%