COL6A6 Gene Myopathy – Genetic Test
COL6A6-related NGS genetic testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the COL6A6 gene for mutations. This test can help identify individuals who have mutations in the COL6A6 gene and may be at risk for developing COL6A6 gene myopathy.
Test Details
COL6A6 gene myopathy is a rare genetic disorder that affects the connective tissue in the body. It is caused by mutations in the COL6A6 gene, which provides instructions for making a protein called collagen type VI alpha 6 chain. This protein is important for the structure and function of connective tissue, which supports and strengthens various tissues in the body, including muscles.
NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic testing. It can detect various types of genetic alterations, including small DNA sequence changes (point mutations), insertions or deletions of genetic material (indels), and larger structural rearrangements.
Test Components and Price
- Test Name: COL6A6 Gene Myopathy COL6A6 related 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 and Doctor
Test Type: Neurological Disorders
Doctor: Neurologist
Test Department
Test Department: Genetics
Pre Test Information
Clinical History of Patient who is going for COL6A6 Gene Myopathy, COL6A6 related NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A6 Gene Myopathy, COL6A6 related.
Importance of Genetic Testing for COL6A6 Gene Myopathy
The results of COL6A6-related NGS genetic testing can provide valuable information for diagnosis, prognosis, and genetic counseling. It can help confirm a suspected diagnosis of COL6A6 gene myopathy, guide appropriate medical management and treatment decisions, and inform family members about their risk of inheriting the condition.
It is important to note that genetic testing for COL6A6 gene myopathy should be ordered and interpreted by healthcare professionals with expertise in genetics. Genetic counseling is also recommended before and after testing to discuss the benefits, limitations, and implications of the test results.
Test Name | COL6A6 Gene Myopathy COL6A6 related 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 COL6A6 Gene Myopathy, COL6A6 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A6 Gene Myopathy, COL6A6 related |
Test Details |
COL6A6 gene myopathy is a rare genetic disorder that affects the connective tissue in the body. It is caused by mutations in the COL6A6 gene, which provides instructions for making a protein called collagen type VI alpha 6 chain. This protein is important for the structure and function of connective tissue, which supports and strengthens various tissues in the body, including muscles. COL6A6-related NGS genetic testing is a type of genetic test that uses next-generation sequencing (NGS) technology to analyze the COL6A6 gene for mutations. This test can help identify individuals who have mutations in the COL6A6 gene and may be at risk for developing COL6A6 gene myopathy. NGS technology allows for the simultaneous analysis of multiple genes, making it a powerful tool for genetic testing. It can detect various types of genetic alterations, including small DNA sequence changes (point mutations), insertions or deletions of genetic material (indels), and larger structural rearrangements. The results of COL6A6-related NGS genetic testing can provide valuable information for diagnosis, prognosis, and genetic counseling. It can help confirm a suspected diagnosis of COL6A6 gene myopathy, guide appropriate medical management and treatment decisions, and inform family members about their risk of inheriting the condition. It is important to note that genetic testing for COL6A6 gene myopathy should be ordered and interpreted by healthcare professionals with expertise in genetics. Genetic counseling is also recommended before and after testing to discuss the benefits, limitations, and implications of the test results. |