India’s first Optical Genome Mapping based test

Screens genetic alterations in FSHD1

What is Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)?

fshd1 test

Facioscapulohumeral Muscular Dystrophy (FSHD) is a common form of muscular dystrophy with an extremely complex genotype. It is progressive myopathy which accounts for 2 to 3% of the muscular dystrophy cases in India 1.

fshd1 test

Coverage of Biomarkers

FSDH1 diagnosis requires accurate sizing of a very large repeat region in the subtelomeric region of chr 4q35. It also requires to determine the non-pathogenic repeat region on 10q26, which is almost identical to chr 4q35.
Optical genome mapping overcomes a number of technical limitations of Southern blot by providing optical mapping of D4Z4 macrosatellite repeat arrays on specific chr 4q and chr 10q alleles and more precise D4Z4 repeat sizing.
The bionano EnFocus FSHD analysis performs the entire detection automatically, and validation studies have shown perfect concordance with the gold standard method.
Validated as per the CAP guidelines with specificity and sensitivity =100%.

Processing Details:

Why MedGenome?

  • India’s First and Only Lab in South Asia to perform FSHD1 test
  • High End Optical Genome Mapping Technology
  • Testing at India’s Largest CAP accredited Lab
  • Precise diagnosis of FSHD1 (sensitivity & specificity - 100%)
  • Global standards for the best laboratory practices followed
  • Qualified team of bioinformatics engineers
  • Stringent quality checks are performed for each reported variant
  • Adequately validated Bioinformatics data analysis pipeline
  • Expert Genome analysts available for variant prioritization, interpretation and reporting

Sample Details

Test CodeTest NameSample TypeTAT
MGM2719FSHD1 repeat contraction testing by Optical Genome MappingBlood (3 – 6 ml) in purple top (EDTA) tube8 weeks
MGM274Whole Exome Sequencing (80-100X)Blood (3 – 6 ml) in purple top (EDTA) tube4 weeks


No, This test only assesses repeat contraction associated with FSHD1 disease.

This rules out the possibility of repeat contraction in the D4Z4 macrosatellite region. More comprehensive genetic analysis like Whole Exome Sequencing may be performed upon clinicians request.




Free Genetic Counseling by MedGenome Genetic Experts

Please share your details with our genetic experts to answer your queries
Enquire Now Call Now

Test Menu

Genetic Counselling



Contact Us