CLCN1 Gene Myotonia Congenita Genetic Test
Test Name: CLCN1 Gene Myotonia Congenita Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
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 CLCN1 Gene Myotonia Congenita NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN1 Gene Myotonia Congenita.
Test Details:
The CLCN1 gene is responsible for encoding a protein called chloride channel 1, which plays a crucial role in muscle contraction and relaxation. Mutations in the CLCN1 gene can lead to a condition called myotonia congenita, which is characterized by muscle stiffness and difficulty relaxing after contraction.
NGS (Next-Generation Sequencing) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the CLCN1 gene, to identify any genetic variations or mutations that may be present. This type of testing can provide a comprehensive assessment of the CLCN1 gene and help diagnose myotonia congenita.
By identifying specific mutations in the CLCN1 gene through NGS testing, healthcare professionals can confirm a diagnosis of myotonia congenita and provide appropriate treatment and management strategies for affected individuals.
Additionally, NGS testing can also help identify carriers of the CLCN1 gene mutations, which can be useful for family planning and genetic counseling purposes.
Test Name | CLCN1 Gene Myotonia congenita 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 CLCN1 Gene Myotonia congenita NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with CLCN1 Gene Myotonia congenita |
Test Details |
The CLCN1 gene is responsible for encoding a protein called chloride channel 1, which plays a crucial role in muscle contraction and relaxation. Mutations in the CLCN1 gene can lead to a condition called myotonia congenita, which is characterized by muscle stiffness and difficulty relaxing after contraction. NGS (Next-Generation Sequencing) is a genetic testing method that allows for the simultaneous analysis of multiple genes, including the CLCN1 gene, to identify any genetic variations or mutations that may be present. This type of testing can provide a comprehensive assessment of the CLCN1 gene and help diagnose myotonia congenita. By identifying specific mutations in the CLCN1 gene through NGS testing, healthcare professionals can confirm a diagnosis of myotonia congenita and provide appropriate treatment and management strategies for affected individuals. Additionally, NGS testing can also help identify carriers of the CLCN1 gene mutations, which can be useful for family planning and genetic counseling purposes. |