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M0182
Myotonic Dystrophy Type 1 (DM1) - PNDT
Test Details: Myotonic dystrophy type 1 (DM1) is a multisystem disorder that affects skeletal and smooth muscle as well as the eye, heart, endocrine system, and central nervous system. It is an autosomal dominant hereditary disorder caused by expansion of a CTG trinucleotide repeat in the noncoding region of gene DMPK.   The test is done in first trimester of the fetal sample to identify the risk factor for the disease.
Category
Molecular Genetics
Pre-test Information
Clinical History, Duly filled consent form, If HIV quantitation not done at RLS then viral load report of the other lab will be required
Report Delivery
16 working days
Gender
All
Organ
Muscle
Myotonic Dystrophy Type 1 (DM1) - PNDT
16320
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