Simira Diagnostics
NGS

Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM

  • Serum sample

Price

₹95,000

  • Free home sample collection
  • ₹200 off at checkout
  • NABL certified lab

or call 77900 98009

Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM

₹95,000

About this test

The FSHD test by optical genome mapping (OGM) analyzes the D4Z4 repeat region on chromosome 4q35 to diagnose facioscapulohumeral muscular dystrophy (FSHD), a common inherited muscle disorder.

OGM accurately sizes D4Z4 repeats, distinguishes chromosome 4 from the similar chromosome 10, identifies the disease-permissive 4qA haplotype, and detects mosaicism.

A contracted D4Z4 array (1–10 repeat units) on 4qA confirms FSHD1. FSHD causes progressive weakness of the face, shoulder blades (scapular winging), and upper arms.

FSHD2 may need additional SMCHD1 or methylation testing.

Questions about this test

When should I get the Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM test?

You should get an FSHD test by OGM if you have progressive weakness of the face, shoulders, or upper arms, such as difficulty smiling, whistling, closing your eyes tightly, or raising your arms, or winged shoulder blades. It is also recommended for a family history of FSHD, for confirming a suspected diagnosis, and for genetic counseling and family planning.

How should I prepare for the Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM test?

No fasting is required for an FSHD test by OGM. A fresh blood sample is needed, because the test requires high-quality, long DNA. Samples must reach the lab promptly, so check collection days with your lab. Inform your doctor about any recent blood transfusion or bone marrow transplant, and consider genetic counseling.

Do I require fasting for the Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM test?

No, fasting is not required for an FSHD test by OGM. You can eat and drink normally before giving your sample, because the test analyzes your DNA, which is not affected by food. However, a fresh blood sample must reach the lab promptly, so confirm the collection schedule with your lab.

See all 142

Not sure this is the right test?

Tell us what your doctor has prescribed and our team will confirm the right test and book it for you.

77900 98009