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 |
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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. |