Novel and reliable molecular method for FSHD detection
Facioscapulohumeral Muscular Dystrophy is characterized by a contraction of D4Z4 repeat array on chromosome 4 (chr4). Bionano FSHD EnFocus Analysis enables accurate measurement of D4Z4 array on chr4 in as little as 3 days, starting with blood samples. The workflow starts with ultra-high molecular weight DNA isolation using Bionano Prep SP Blood and Cell Culture DNA Isolation kit. This DNA is labeled with a Direct and Label Stain DNA labeling kit, and then linearized and imaged by Saphyr Whole Genome Imaging Instrument.
Streamlined FSHD analysis
- Enables accurate measurement of D4Z4 repeat array on chr4
- Differentiates between permissive 4qA and non-permissive 4qB haplotypes
- Distinguishes D4Z4 array present on chr4 from partially homologous D4Z4 array present on chr10
- Provides structural variations as well as copy number variations proximal to D4Z4 array on chr4
- Presents copy number variations proximal to SMCHD1 gene on chr18, a gene involved in methylation of D4Z4 repeat array
- Retains whole genome information to perform further research
Quick and simple workflow
- Enables molecular FSHD detection from blood samples in as little as 3 days
- Supports processing of up to 45 samples per week
Novel reliable molecular method
- Highly specific and sensitive in detecting as few as 1 D4Z4 repeat to over 30 repeats
- 100% concordance to Southern blot for D4Z4 repeat array measurement in cell lines from FSHD positive individuals.
Ready to make Bionano EnFocus FSHD Analysis Part of your workflow?