UniPharmGx19
- Report in 20 days
- Serum
₹20,000
Facioscapulohumeral Muscular Dystrophy (FSHD) by OGM
₹95,000
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.
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.
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.
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.
₹20,000
₹16,480
₹13,500
₹30,000
Tell us what your doctor has prescribed and our team will confirm the right test and book it for you.