Facioscapulohumeral muscular dystrophy type 1 (FSHD1) is a progressive disorder that primarily affects the muscles of the face, shoulder blades (scapula), upper arms, and lower legs. The age of symptom onset is variable but typically occurs in the teenage years with more than half of individuals with FSHD1 having symptoms by age 20.
Bionano Laboratories offers unlimited clinical support to patients and providers through access to our genetic counselors who can discuss testing capabilities, strategy, informed consent, and results.
Providers can call our genetic counselors at
Optical genome mapping is a single process capable of detecting all classes of genetic structural variation. This includes deletions, duplications, insertions, translocations, inversions, and repeat contractions and expansions. This technology relies on the direct imaging of ultra-high molecular weight DNA molecules. Using direct label and stain technology, fluorescent labels are attached to a 6 bp sequence motif, occurring 20 times per 100 kbp. Fluorescent labels are attached nondestructively and leave the DNA samples intact. The labeled DNA is linearized through nanochannels and imaged creating a genomic map. Learn more about OGM data services.
No, this test only assesses genetic changes associated with FSHD1.
If this test is non-diagnostic, a more comprehensive genetic evaluation might be warranted. This may include whole exome sequencing using the NextStepDx PLUS test, which evaluates the coding regions of all 20,000+ genes in the genome.