India’s first Optical Genome Mapping based test

Screens genetic alterations in FSHD1

What is Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1)?

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.

Book Test Now

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 Code	Test Name	Sample Type	TAT
MGM2719	FSHD1 repeat contraction testing by Optical Genome Mapping	Blood (3 – 6 ml) in purple top (EDTA) tube	8 weeks
MGM274	Whole Exome Sequencing (80-100X)	Blood (3 – 6 ml) in purple top (EDTA) tube	4 weeks

FAQs

Does this test detect both FSHD1 and FSHD2?

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

What if FSHD1 test is negative?

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.