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Laboratory

Exult Diagnostics, Dr. Lal PathLabs, Metropolis Labs, Oncquest Labs

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MYOTONIC DYSTROPHY TYPE 2

Price range: ₹ 9000 through ₹ 16600

EX1559      MYOTONIC DYSTROPHY TYPE 2
Specimen: 4 mL (2 mL min.) whole blood in 1 Lavender Top (EDTA) tube. Ship refrigerated. DO NOT FREEZE.
Stability:
Room Refrigerated Frozen
6 hrs 1 week NA
Method: PCR, Fragment Analysis
Comment: Samples received on holidays will be reported in the next schedule/next working day.
Report: Contact us to know the TAT.
Usage: Myotonic dystrophy is an autosomal dominant disorder characterized mainly by muscular dystrophy cataracts, hypogonadism, frontal balding, and ECG changes. Myotonic dystrophy type 2 (DM2), is rare and generally manifests with milder signs and symptoms than DM1. DM2 is caused by heterozygous expansion of a CCTG repeat in intron 1 of the ZNF9 gene (3q21.3). Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss.
Doctor Specialty: Neurologist
Disease: Neurologic Disorder
Components: *ZFN9 Gene
Courier Charges:
Home Collection: Available (*T&C Apply)
Department: MOLECULAR DIAGNOSTICS
Pre Test Information: A duly filled Genomics Clinical Information Requisition Form is mandatory.