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COL12A1 Gene Bethlem myopathy type 2 NGS Genetic DNA Test Details
DNA Labs India - Bethlem myopathy type 2 NGS Genetic DNA Test
Bethlem myopathy type 2 is a rare genetic disorder that affects the muscles and joints. It is caused by mutations in the COL12A1 gene, which provides instructions for making a protein called collagen XII. Collagen XII is important for the structure and function of muscles and connective tissues in the body.
At DNA Labs India, we offer a Bethlem myopathy type 2 NGS Genetic DNA Test to diagnose this rare genetic disorder. This test uses next-generation sequencing (NGS) technology to analyze the COL12A1 gene for mutations that may be causing Bethlem myopathy type 2.
Symptoms of Bethlem Myopathy Type 2
Bethlem myopathy type 2 is characterized by muscle weakness and wasting, joint stiffness and contractures, and mild-to-moderate respiratory and cardiac involvement. The symptoms of Bethlem myopathy type 2 may vary from person to person, and can range from mild to severe.
Some common symptoms of Bethlem myopathy type 2 include:
- Muscle weakness and wasting, typically in the hands, feet, and lower limbs
- Joint stiffness and contractures, particularly in the elbows, wrists, fingers, hips, knees, and ankles
- Mild-to-moderate respiratory and cardiac involvement
- Difficulty walking and standing
- Frequent falls
- Delayed motor milestones in infancy
- Abnormal gait
Diagnosis of Bethlem Myopathy Type 2
Diagnosis of Bethlem myopathy type 2 involves a combination of clinical evaluation, genetic testing, and imaging studies. A physical examination may reveal muscle weakness, joint contractures, and respiratory and cardiac involvement. Imaging studies such as MRI or CT scans may reveal muscle wasting and abnormal connective tissue.
Genetic testing, such as our Bethlem myopathy type 2 NGS Genetic DNA Test, can confirm a diagnosis of Bethlem myopathy type 2. This test analyzes the COL12A1 gene for mutations that may be causing the disorder.
Cost of Bethlem Myopathy Type 2 NGS Genetic DNA Test
At DNA Labs India, we offer the Bethlem myopathy type 2 NGS Genetic DNA Test for INR 20,000. This test uses next-generation sequencing (NGS) technology to analyze the COL12A1 gene for mutations that may be causing Bethlem myopathy type 2.
Conclusion
Bethlem myopathy type 2 is a rare genetic disorder that affects the muscles and joints. It is caused by mutations in the COL12A1 gene, which provides instructions for making a protein called collagen XII. At DNA Labs India, we offer a Bethlem myopathy type 2 NGS Genetic DNA Test to diagnose this rare genetic disorder. This test uses next-generation sequencing (NGS) technology to analyze the COL12A1 gene for mutations that may be causing Bethlem myopathy type 2. The cost of the test is INR 20,000. If you or a loved one are experiencing symptoms of Bethlem myopathy type 2, contact DNA Labs India to schedule a consultation and learn more about our genetic testing services.
