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COL6A1 Gene Bethlem Myopathy Genetic Test

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

-21%

The COL6A1 gene Bethlem myopathy genetic test is a specialized diagnostic tool designed to identify mutations in the COL6A1 gene, which are associated with Bethlem myopathy. Bethlem myopathy is a rare, inherited connective tissue disorder characterized by muscle weakness, joint stiffness, and skin abnormalities. The condition is caused by mutations in one of the genes responsible for the production of type VI collagen, including the COL6A1 gene. This genetic testing is crucial for confirming a diagnosis, understanding the severity of the condition, and informing treatment and management strategies.

Performed at DNA Labs UAE, the test offers a reliable and accurate means of genetic analysis. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory to detect any genetic abnormalities in the COL6A1 gene. The cost of the COL6A1 gene Bethlem myopathy genetic test is 4400 AED. This investment provides patients and their families with essential information regarding the genetic basis of Bethlem myopathy, facilitating informed decisions about care and potentially guiding genetic counseling for affected families.

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COL6A1 Gene Bethlem myopathy Genetic Test

Test Name: COL6A1 Gene Bethlem myopathy 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 COL6A1 Gene Bethlem myopathy NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A1 Gene Bethlem myopathy.

Test Details:

Bethlem myopathy is a rare genetic disorder that affects muscle function. It is caused by mutations in the COL6A1 gene, which provides instructions for making a protein called collagen VI. This protein is an important component of the extracellular matrix, which is a network of proteins and other molecules that support and protect cells in the body.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to rapidly and accurately analyze large amounts of DNA. This type of testing can be used to identify mutations in the COL6A1 gene that may be causing Bethlem myopathy. NGS genetic testing can be performed on a sample of blood or other tissue from the individual being tested. The sample is analyzed in a laboratory, and the results are interpreted by a genetic counselor or other healthcare professional.

If a mutation in the COL6A1 gene is identified, it can help confirm a diagnosis of Bethlem myopathy. This information can also be used to inform treatment and management strategies, and to provide information about the risk of passing the condition on to future generations.

Test Name COL6A1 Gene Bethlem myopathy 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 COL6A1 Gene Bethlem myopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A1 Gene Bethlem myopathy
Test Details

Bethlem myopathy is a rare genetic disorder that affects muscle function. It is caused by mutations in the COL6A1 gene, which provides instructions for making a protein called collagen VI. This protein is an important component of the extracellular matrix, which is a network of proteins and other molecules that support and protect cells in the body.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to rapidly and accurately analyze large amounts of DNA. This type of testing can be used to identify mutations in the COL6A1 gene that may be causing Bethlem myopathy.

NGS genetic testing can be performed on a sample of blood or other tissue from the individual being tested. The sample is analyzed in a laboratory, and the results are interpreted by a genetic counselor or other healthcare professional.

If a mutation in the COL6A1 gene is identified, it can help confirm a diagnosis of Bethlem myopathy. This information can also be used to inform treatment and management strategies, and to provide information about the risk of passing the condition on to future generations.