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COL12A1 Gene Bethlem Myopathy Type 2 Genetic Test

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

-21%

The COL12A1 gene plays a crucial role in the structure and function of connective tissues. Mutations in this gene are associated with Bethlem myopathy type 2, a rare genetic disorder characterized by muscle weakness, joint stiffness, and skin abnormalities. To diagnose this condition, genetic testing is available at DNA Labs UAE, where a specific test targets the COL12A1 gene to identify mutations indicative of Bethlem myopathy type 2. The test is priced at 4400 AED and involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed in the lab. This genetic test is essential for confirming the diagnosis, understanding the inheritance pattern, and guiding management and treatment options for affected individuals and their families.

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COL12A1 Gene Bethlem myopathy type 2 Genetic Test

At DNA Labs UAE, we offer the COL12A1 Gene Bethlem myopathy type 2 Genetic Test. This test helps in diagnosing and understanding the rare inherited disorder known as Bethlem myopathy type 2.

Test Components and Price

  • Components: COL12A1 Gene Bethlem myopathy type 2 Genetic Test
  • Price: 4400.0 AED

Sample Condition and Report Delivery

The test requires either blood or extracted DNA or one drop of blood on an FTA Card. The report will be delivered within 3 to 4 weeks.

Method and Test Type

The test utilizes NGS (next-generation sequencing) technology to analyze the entire coding region of the COL12A1 gene. It falls under the category of Neurological Disorders.

Doctor and Test Department

  • Doctor: Neurologist
  • Test Department: Genetics

Pre Test Information

Prior to undergoing the COL12A1 Gene Bethlem myopathy type 2 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected by COL12A1 Gene Bethlem myopathy type 2.

Test Details

The COL12A1 gene encodes the collagen type XII alpha 1 chain, which is a vital component of the extracellular matrix in muscles, tendons, and skin. Mutations in this gene have been associated with Bethlem myopathy type 2, a rare inherited disorder characterized by muscle weakness and wasting, joint contractures, and skin changes.

NGS genetic testing is employed to analyze the entire coding region of the COL12A1 gene. This helps identify any disease-causing mutations. The test is beneficial for individuals with suspected or confirmed Bethlem myopathy type 2, as well as family members who may be at risk of inheriting the condition.

An early diagnosis, along with genetic counseling, can greatly assist affected individuals and their families in understanding the condition better. It also helps in making informed decisions about treatment and management options.

Test Name COL12A1 Gene Bethlem myopathy type 2 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 COL12A1 Gene Bethlem myopathy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL12A1 Gene Bethlem myopathy type 2
Test Details

The COL12A1 gene is responsible for encoding the collagen type XII alpha 1 chain, which is a major component of the extracellular matrix in various tissues including muscles, tendons, and skin. Mutations in this gene have been linked to Bethlem myopathy type 2, which is a rare inherited disorder characterized by muscle weakness and wasting, joint contractures, and skin changes.

NGS (next-generation sequencing) genetic testing can be used to analyze the entire coding region of the COL12A1 gene to identify any disease-causing mutations. This test can be useful for individuals with a suspected or confirmed diagnosis of Bethlem myopathy type 2, as well as for family members who may be at risk of inheriting the condition. Early diagnosis and genetic counseling can help affected individuals and their families better understand the condition and make informed decisions about treatment and management options.