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?

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Already Have a Saphyr Instrument?

View Supporting Documentation for enabling Bionano EnFocus FSHD Analysis here.

Get the latest software versions – Bionano Access to v1.5 and Bionano Solve to v3.5.

See How Scientists are Using Bionano EnFocus FSHD Analysis

High resolution view of D4Z4 repeat regions for studying FSHD using Bionano whole genome optical mapping
Characterization of clinically relevant repeats in the human genome

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