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CHRNE Gene Myasthenic Syndrome Congenital Genetic Test Cost

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

-21%

The CHRNE gene myasthenic syndrome congenital genetic test is a specialized diagnostic procedure designed to detect mutations in the CHRNE gene, which can cause congenital myasthenic syndrome (CMS). CMS is a group of genetic disorders characterized by muscle weakness and fatigue that worsens with physical activity. The condition results from the impaired transmission of signals between nerves and muscles, primarily due to abnormalities in the acetylcholine receptor (AChR), for which the CHRNE gene encodes a key component.

This test is particularly crucial for individuals showing symptoms of CMS, such as muscle weakness, droopy eyelids, facial muscle involvement, and difficulties with movements that require sustained muscle contraction. Early and accurate diagnosis through the CHRNE gene test can lead to appropriate management strategies and treatments, significantly improving the quality of life for affected individuals.

The test is available at DNA Labs UAE, a reputable facility known for its state-of-the-art genetic testing services. The cost of the CHRNE gene myasthenic syndrome congenital genetic test is 4400 AED. This investment covers the meticulous process of DNA analysis to identify the presence of any mutations in the CHRNE gene that could lead to CMS. The test results can provide essential information for guiding treatment decisions and offering genetic counseling to families with a history of the condition.

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CHRNE Gene Myasthenic Syndrome Congenital Genetic Test

Test Name: CHRNE Gene Myasthenic Syndrome Congenital Genetic Test

Components: NGS Technology

Price: 4400.0 AED

Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery: 3 to 4 Weeks

Test Type: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information: Clinical History of Patient who is going for CHRNE Gene Myasthenic Syndrome, Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNE Gene Myasthenic Syndrome, Congenital.

Test Details:

The CHRNE gene is associated with a condition called myasthenic syndrome, congenital. This condition is characterized by muscle weakness and fatigue, particularly in the muscles that control movement and coordination. It is caused by mutations in the CHRNE gene, which provides instructions for making a protein called the acetylcholine receptor epsilon subunit. The acetylcholine receptor is a protein complex that plays a critical role in transmitting signals between nerve cells and muscle cells. Mutations in the CHRNE gene can disrupt the normal functioning of the acetylcholine receptor, leading to impaired signal transmission and muscle weakness.

NGS (Next-Generation Sequencing) genetic testing is a technique that can be used to analyze the DNA sequence of the CHRNE gene. This type of testing can identify specific mutations or variations in the gene that may be causing the myasthenic syndrome, congenital. NGS testing can provide a more comprehensive analysis of the gene compared to traditional sequencing methods.

Genetic testing for CHRNE gene mutations can help confirm a diagnosis of myasthenic syndrome, congenital and guide treatment decisions. It can also be used for genetic counseling and to assess the risk of passing on the condition to future generations.

Test Name CHRNE 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 CHRNE Gene Myasthenic syndrome, congenital NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CHRNE Gene Myasthenic syndrome, congenital
Test Details

The CHRNE gene is associated with a condition called myasthenic syndrome, congenital. This condition is characterized by muscle weakness and fatigue, particularly in the muscles that control movement and coordination. It is caused by mutations in the CHRNE gene, which provides instructions for making a protein called the acetylcholine receptor epsilon subunit.

The acetylcholine receptor is a protein complex that plays a critical role in transmitting signals between nerve cells and muscle cells. Mutations in the CHRNE gene can disrupt the normal functioning of the acetylcholine receptor, leading to impaired signal transmission and muscle weakness.

NGS (Next-Generation Sequencing) genetic testing is a technique that can be used to analyze the DNA sequence of the CHRNE gene. This type of testing can identify specific mutations or variations in the gene that may be causing the myasthenic syndrome, congenital. NGS testing can provide a more comprehensive analysis of the gene compared to traditional sequencing methods.

Genetic testing for CHRNE gene mutations can help confirm a diagnosis of myasthenic syndrome, congenital and guide treatment decisions. It can also be used for genetic counseling and to assess the risk of passing on the condition to future generations.