Our testing can help diagnose neurodegenerative diseases including Parkinson’s disease, Charcot-Marie-Tooth Neuropathy, Epilepsy, Spastic Paraplegia, Spinocerebellar Ataxia and Spinal Muscular Atrophy, among many others.
|Variant calling – SNP||>99%*#|
|Variant calling – Indel||>99%*#|
* Passed GenQA/UK NEQAS external quality assurance
# The interpretation of sequencing variants is based on the current understanding of the variants at the time it was observed, which may change over time as more information about the genes becomes available. Not all variants are represented in this report.