CombHeliX® FSHD Probes

The FSHD Genomic Morse Code set allows the analysis of the haplotype and precise repeat unit counts of all four 4q and 10q D4Z4 repeat arrays on DNA stretched molecules

The “CombHeliX® FSHD probes” are designed for the diagnosis of FSHD1 as it enables the characterization of the 3.3kb-D4Z4 repeat-containing loci on chromosomes 4 and 10 by fluorescent hybridization on combed DNA. Complex rearrangements and mosaicism variants that are not accounted with the most current technologies are clearly identified with the “CombHeliX® FSHD probes”. This test is developed to fully match the requirements of healthcare professionals working with FSHD cases.

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

Using a combination of probes, Genomic Vision has developed specific Genomic Morse Codes that enable to identify and characterize each of the four alleles required to make a reliable FSHD1 diagnosis.

Genomic Vision’s FSHD test enables the accurate diagnosis of FSHD1 patients and is becoming the routine diagnostic method of reference

  • High sensitivity: >99%
  • High specificity: >99% – Unambiguous results
  • Distinction of 4q and 10q telomeric ends
  • Distinction of qA and qB haplotype
  • 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
  • High accuracy of the number of D4Z4 repeats
  • Allows a measurement and haplotyping of every repeat array with potentially a single repeat precision
  • Detection of mosaicism and complex rearrangements
  • Accurate detection of complex rearrangements and mosaicism not visualized with the conventional methods
  • Direct visualization of hundreds of stretched DNA molecules
  • Automated analysis
  • Compliant software – automated data management

For research use only

Product Quantity Reference
CombHeliX® FSHD probes (The assay is validated for use with the Molecular Combing Platform) 10 hybridizations FSH-HYB-001
CombHeliX® FSHD Software One perpetual license FSH-ASW-001