All of the main neurological disease categories have a large number of subtypes with extensive phenotypic overlap, which complicates traditional clinical diagnosis. Genetic diagnostics is the most efficient way to subtype neurological diseases, and provides the necessary information to make confident individualized treatment and management decisions.
25 diagnostic tests, covering 595 genes
associated with neurological conditions.
The Blueprint Genetics Comprehensive Muscular Dystrophy/Myopathy
Panel is a 51 gene diagnostic tool developed for patients with
clinical suspicion of distal myopathy or muscular dystrophy.
Our diagnostic process
From sample to clinical interpretation
Ordering and sample preparation
After receiving a patient’s medical history and sample we start the sample preparations in our CLIA certified laboratory.
We sequence the DNA in our lab with our proprietary targeted sequencing method OS-Seq™, developed at Stanford.
Data analysis and interpretation
We use our own proprietary automated bioinformatics pipeline to produce clinically relevant information - fast and reliably.
Our team of geneticists and clinicians produce a comprehensive clinical statement to support the diagnosis of your patient.