Nemaline Myopathy (NEM2) via the Nebulin (NEB) Gene
NEB
2 - 3 weeks (7 - 16 days STAT)
Who is this test for? | Individuals with relevant features who have a clinical or suspected diagnosis of nemaline myopathy Individuals with muscle biopsies showing type 1 fiber predominance and nemaline bodies Individuals with a single variant in NEB identified on NGS-based testing and a strong suspicion of nemaline myopathy Reproductive partners of individuals with a known pathogenic variant in the NEB gene |
Method | NGS with CNV (Exome or Genome Platform) |
Specimen(s) | Exome Platform: Blood, DNA, Buccal, Saliva, Tissue Genome Platform: Blood, DNA |
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Marketing blurb
Interpreting genetic test results involves understanding whether a genetic change is positive (indicating a potential health risk), negative, or uncertain in significance. It’s important to discuss these results with a healthcare professional to understand their impact on your patient’s health and any necessary next steps.
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