CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test Cost 20000 Rs

CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test

CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test

Disease: Neurological Disorders

Method: NGS Technology

DNA Labs India is Ranked as No1 genetic DNA Test lab- 3500 Sample collection centers across India Call 07941057551 to talk with Doctor to get second opinion for free of cost - 100% All Conversation are private and confidential

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Sample Types
  • Blood or Extracted DNA or One drop Blood on FTA Card o

20,000.00/- Rs ₹28,000.0028% off

  • Results in : 3 to 4 Weeks
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CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test Cost 20000 Rs

Test Name CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test
Test type Neurologist
Pre-test Information Clinical History of Patient who is going for CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel
Report Delivery 3 to 4 Weeks
Components
Price ₹ 20000
Method NGS Technology

CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test Details

Short Description

NGS genetic DNA test detecets for variant and mutation detection in CHRND gene for Myasthenic syndrome, congenital, type 3B, fast-channel

Test Specifications

  • Speciality: Neurologist

  • Components:

  • Department: Genetics

  • Shipping Stability: Ambient Room Temperature

PreTest Information

Clinical History of Patient who is going for CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel

Detail Description

CHRND Gene Myasthenic Syndrome - DNA Labs India

CHRND Gene Myasthenic Syndrome is a rare genetic disorder that affects the muscles used for movement and breathing. It is caused by mutations in the CHRND gene, which provides instructions for making a protein that is essential for the communication between nerve cells and muscle cells. This communication is necessary for the muscles to contract and move.

There are several types of CHRND Gene Myasthenic Syndrome, including congenital and fast-channel types. Type 3B is a fast-channel type that is caused by specific mutations in the CHRND gene.

Symptoms

The symptoms of CHRND Gene Myasthenic Syndrome can vary depending on the type and severity of the condition. Some common symptoms include:

  • Muscle weakness, especially in the arms, legs, and eyes
  • Trouble breathing
  • Fatigue
  • Difficulty swallowing
  • Delayed motor development

Diagnosis

Diagnosis of CHRND Gene Myasthenic Syndrome typically involves a physical exam, medical history review, and genetic testing. Genetic testing can confirm the presence of mutations in the CHRND gene and help to determine the specific type of the condition.

NGS Genetic DNA Test Cost in India

DNA Labs India offers NGS Genetic DNA Test for CHRND Gene Myasthenic Syndrome at a cost of INR 20,000. This test is highly accurate and provides reliable results that can help with diagnosis and treatment planning.

If you or a loved one is experiencing symptoms of CHRND Gene Myasthenic Syndrome, it is important to seek medical attention and consider genetic testing. DNA Labs India offers accurate and affordable genetic testing services that can help to provide answers and improve overall health outcomes.

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Congenital myasthenic syndromes (CMS) are a group of rare genetic disorders that affect the neuromuscular junction, the point where nerve cells connect with muscles. These syndromes result in muscle weakness and fatigue, particularly during repetitive movements. Mutations in the CHRND gene have been associated with a specific subtype of CMS known as congenital myasthenic syndrome type 3B, fast-channel type.

The CHRND gene encodes a subunit of the acetylcholine receptor, which is essential for the transmission of signals from nerves to muscles. Mutations in this gene can lead to altered functioning of the acetylcholine receptor, disrupting neuromuscular transmission and causing muscle weakness.

Features of congenital myasthenic syndrome type 3B, fast-channel type, can include:

  • Muscle weakness and fatigue
  • Difficulty with breathing and swallowing
  • Variable severity of symptoms
  • Potential improvement in muscle function with anticholinesterase medications

NGS (Next-Generation Sequencing) genetic DNA testing can help identify mutations in the CHRND gene associated with congenital myasthenic syndrome type 3B, fast-channel type. Genetic testing is an important tool for confirming the diagnosis and understanding the underlying genetic cause of the syndrome.

If you suspect that you or someone you know might have congenital myasthenic syndrome type 3B, fast-channel type, it's important to consult with a neurologist, medical geneticist, or healthcare professional with expertise in neuromuscular disorders. They can provide appropriate genetic testing, medical management, and supportive care recommendations tailored to the individual's needs.

Frequently Asked Questions

  • What is the cost of CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test?

    Cost of CHRND Gene Myasthenic syndrome, congenital, type 3B, fast-channel NGS Genetic DNA Test is 20000 Rs

₹20,000.00 ₹28,000.0028% off

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