FSHD FiberProbes®

The FSHD Genomic Morse Code set allows to precisely determine the haplotype and the repeat unit number for all four 4q and 10q D4Z4 repeat arrays on stretched DNA molecules isolated from White Blood Cells (WBC)



The FSHD FiberProbes® are designed for the genetic diagnosis of FSHD-1. They enable the characterization of the 3.3 kb-D4Z4 repeats and the qA/qB haplotype sequences located in the subtelomeric regions of chromosomes 4 and 10, thanks to the hybridization of fluorescent probes on single DNA molecules. Complex rearrangements and mosaicism variants, often not identified by other technologies, are clearly identified. The molecular combing technique associated with the FSHD FiberProbes® allows to overcome the issues of false positives and false negatives, as the 4q35 and 10q26 loci are directly visualized and do not involved restriction enzymes.

This test is CE-IVD marked and matches all the requirements in performance of a validated diagnostic assay for healthcare professionals working with FSHD cases.

In addition to the FSHD FiberProbes®, the diagnostic of FSHD requires the use of the CE-IVD “FiberStudio® FSHD Software” for the detection of the hybridized FSHD FiberProbes®, the analysis and the interpretation of the results.

Using a combination of probes, Genomic Vision has developed a specific and powerful tool to identify and characterize each of the four alleles required to make a reliable FSHD1 diagnosis for the best management of FSHD patients.


Genomic Vision’s FSHD assay enables the accurate diagnosis of FSHD1 patients

    • High sensitivity: >99%
    • High specificity: >99% – Unambiguous results
      • Distinction of 4q and 10q telomeric ends
      • Distinction of qA and qB haplotype
      • Unequivocal mosaicism detection
      • Characterization of DNA rearrangements inside and outside the D4Z4 repeat array
      • No false negative or false positive
  • High accuracy of the number of D4Z4 repeats
  • Haplotyping and measure of each allele with a single repeat precision
  • Automated analysis
  • Compliant software – automated data management
  • Straightforward visualization
  • Stretching of the DNA and the suitable probe design allow a direct visualization of allelic combination associated with FSHD1
  • Molecular characterization of the FSHD1 locus in one single test




All our products can be ordered online using our GV Store.

For more information about our FSHD Diagnostic Assay, please contact us at sales@genomicvision.com

Product Quantity Reference
FSHD FiberProbes®  CE-IVD 10 hybridizations FSHD-HYB-002-IVD

FSHD FiberProbes®  RUO

10 hybridizations