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Nx GEN SEQUENCING: CHARCOT-MARIE-TOOTH DISEASE & SENSORY NEUROPATHIES PANEL Test in Chennai

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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

  • ₹ 21280
Special Instruction :
Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Overview

Charcot-Marie-Tooth disease is a group of inherited disorders that cause nerve damage mostly affecting peripheral nerves in arms & legs. Symptoms appear in teenagers & young adults and include weakness in legs, ankles, feet & arms, high foot arch, curled toes, foot drop, frequent falls and loss of sensation (sensory neuropathy). The disease progresses slowly and most patients live to a normal age. This test detects the genetic changes that cause Charcot-Marie-Tooth disease.

Parameters

Doctor Information

Code

Pre-test Information

Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

Code

Report Delivery

Sample Daily by 9 am; Report 40 Working days

Code

Code

N795

Category

Category

Genetic Disorders-Hereditary Motor & Sensory Neuropathy

Stability Room

Stability Room

6 hrs

Stability Refrigerated

Stability Refrigerated

72 hrs

Stability Frozen

Stability Frozen

NA

Method

Method

NGS, Sanger sequencing

Specimen

Usage

Charcot-Marie-Tooth (CMT) disease is a hereditary motor and sensory neuropathy. It refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy, also known as hereditary motor and sensory neuropathy (HMSN). Individuals with CMT manifest symmetric, slowly progressive distal motor neuropathy of the arms and legs usually beginning in the first to third decade and resulting in weakness and atrophy of the muscles in the feet and/or hands. The affected individual typically has distal muscle weakness and atrophy, weak ankle dorsiflexion, depressed tendon reflexes, and high-arched feet. Sensorineural hearing loss can occur. Dejerine-Sottas syndrome (DSS) is a demyelinating neuropathy of infancy and childhood & is a form of CMT. CMT can be caused by mutations in many different genes which code for proteins that are involved in the function of peripheral nerves in the feet, legs and hands. These mutations affect the function of the proteins in ways that are not fully understood; however they likely impair axons which transmit nerve impulses or affect the specialized cells that produce myelin.

Specimen

Specimen

Submit 10 mL (5 mL min.) Whole blood from 2 Lavender Top (EDTA) tubes. Ship refrigerated. DO NOT FREEZE. Duly filled Whole Exome Sequencing Consent Form (Form 37) is mandatory.

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