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CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CHRNB1 gene myasthenic syndrome congenital genetic test is a specialized diagnostic procedure aimed at identifying mutations in the CHRNB1 gene, which can lead to congenital myasthenic syndrome (CMS). CMS is a group of inherited neuromuscular disorders caused by defects at the neuromuscular junction, leading to muscle weakness and fatigue. The CHRNB1 gene plays a critical role in encoding a subunit of the nicotinic acetylcholine receptor, essential for muscle activation and movement.

This genetic test is crucial for early diagnosis and management of CMS, allowing for tailored treatment plans that can significantly improve the quality of life for affected individuals. It involves analyzing the patient’s DNA to detect mutations in the CHRNB1 gene that are known to cause the disorder.

The test is available at DNA Labs UAE, a leading facility specializing in genetic and molecular diagnostics. The cost of the CHRNB1 gene myasthenic syndrome congenital genetic test is 4400 AED. This investment in health enables individuals and families to gain valuable insights into their genetic makeup, paving the way for personalized medical care and interventions that can mitigate the impact of CMS.

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CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test

Welcome to DNA Labs UAE, where we offer the CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test. This test is designed to analyze the CHRNB1 gene, which is associated with a type of congenital myasthenic syndrome (CMS), a rare genetic disorder affecting the neuromuscular junction.

Test Components

The CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test includes:

  • NGS Technology

Price

The cost of the CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test is 4400.0 AED.

Sample Condition

We accept the following sample conditions for this test:

  • Blood
  • Extracted DNA
  • One drop of blood on FTA Card

Report Delivery

You can expect to receive your test report within 3 to 4 weeks.

Method

The CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test utilizes NGS (Next-Generation Sequencing) technology.

Test Type

This test is specifically designed for neurological disorders.

Doctor

This test is performed under the supervision of a neurologist.

Test Department

The CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test is conducted in our Genetics department.

Pre Test Information

Before undergoing the CHRNB1 Gene Myasthenic Syndrome Congenital Genetic Test, it is important to provide the following:

  • Clinical history of the patient
  • A genetic counseling session to draw a pedigree chart of affected family members

Test Details

The CHRNB1 gene is associated with a type of congenital myasthenic syndrome (CMS), a group of rare genetic disorders that cause muscle weakness and fatigue, typically appearing in infancy or childhood. NGS genetic testing is used to identify mutations or variants in the CHRNB1 gene that may be responsible for the disorder. This type of genetic testing allows for a comprehensive analysis of the entire coding region of the CHRNB1 gene, detecting various types of mutations, including single nucleotide variants, small insertions or deletions, and larger structural variants. This comprehensive approach ensures a more accurate diagnosis, guiding treatment decisions and genetic counseling.

NGS genetic testing for CHRNB1 gene-related myasthenic syndrome is recommended for individuals exhibiting symptoms such as muscle weakness, fatigue, and respiratory difficulties. It can also be used for carrier testing in family members of affected individuals. It is important to consult with a healthcare professional or genetic counselor to determine the appropriateness and implications of testing, as well as to interpret the results.

Test Name CHRNB1 Gene Myasthenic syndrome congenital Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CHRNB1 Gene Myasthenic syndrome, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNB1 Gene Myasthenic syndrome, congenital
Test Details

The CHRNB1 gene is associated with a type of congenital myasthenic syndrome (CMS), which is a group of rare genetic disorders that affect the neuromuscular junction. These disorders result in muscle weakness and fatigue, often starting from infancy or childhood.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of CHRNB1 gene-related myasthenic syndrome, NGS genetic testing can be used to identify mutations or variants in the CHRNB1 gene that may be causing the disorder.

By analyzing the entire coding region of the CHRNB1 gene, NGS can detect various types of mutations, including single nucleotide variants, small insertions or deletions, and larger structural variants. This comprehensive approach allows for a more accurate diagnosis and can help guide treatment decisions and genetic counseling.

NGS genetic testing for CHRNB1 gene-related myasthenic syndrome may be recommended for individuals with symptoms suggestive of CMS, such as muscle weakness, fatigue, and respiratory difficulties. It can also be used for carrier testing in family members of affected individuals.

It’s important to note that genetic testing should be done in consultation with a healthcare professional or genetic counselor who can provide guidance on the appropriateness and implications of testing, as well as help interpret the results.

SKU: TEST-1773 Category:

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