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.
Coverage of Biomarkers
- 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
|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|
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.