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Nx GEN SEQUENCING: DUCHENNE & BECKER MUSCULAR DYSTROPHY PANEL Test in Bengaluru

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    Test Recommended For:

    Male

  • Report Frequency :

    Sample Daily by 9 am; Report 40 Working days

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  • parameter icon

    Parameters :

    1

  • ₹ 21600
Special Instruction :
Duly filled NGS Test Requisition Form (Form 40) is mandatory.

Overview

Muscular dystrophy is a group of diseases that cause progressive muscle weakness & loss of muscle mass due to mutations in genes. The defective genes interfere with the production of proteins needed to form a healthy muscle. There are different types of muscular dystrophy of which Duchenne & Becker type are more common. Duchenne muscular dystrophy is more often seen in boys & girls are carriers of the defective gene. Becker muscular dystrophy is milder & progresses slowly. Symptoms include difficulty in rising from sitting or lying position, waddling gait, large calf muscles, muscle pain & stiffness and delayed growth. Later breathing & swallowing difficulties also arise. The most common defect is found to be in DMD gene.

Parameters

Doctor Information

Code

Pre-test Information

Duly filled NGS Test Requisition Form (Form 40) is mandatory.

Code

Report Delivery

Sample Daily by 9 am; Report 40 Working days

Code

Code

N800

Category

Category

Genetic Disorders-Muscular Dystrophy

Stability Room

Stability Room

6 hrs

Stability Refrigerated

Stability Refrigerated

72 hrs

Stability Frozen

Stability Frozen

NA

Method

Method

NGS, Sanger sequencing

Specimen

Usage

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive muscular dystrophies caused by mutations in the dystrophin/DMD gene. DMD affects 1/3000 male births and is more common than BMD. Both disorders affect proximal muscles specially of lower extremities. DMD manifests early with difficulty in climbing stairs and running but later it leads to generalized weakness. BMD manifests between 5-15 years of age and progresses at a much slower rate. Cardiac involvement is common in both diseases and may result in heart failure. Mental retardation may occur in both disorders but is more common in DMD.

Specimen

Specimen

Submit 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled NGS Test Requisition Form (Form 40) is mandatory.

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