Test Code 8949
Amyotrophic Lateral Sclerosis (ALS)/Motor Neuron Disease via the SOD1 Gene
SOD1
2 - 3 weeks (7 - 16 days STAT)
Who is this test for? | Individuals with relevant features who have a clinical or suspected diagnosis of amyotrophic lateral sclerosis (ALS) Individuals with a family history of SOD1-related ALS, for which the causative variant is unknown Reproductive partners of individuals with a known pathogenic variant in the SOD1 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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