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.
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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.