Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL6A2 gene for Ullrich congenital muscular dystrophy

PreTest Information

Clinical History of Patient who is going for COL6A2 Gene Ullrich congenital muscular dystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A2 Gene Ullrich congenital muscular dystrophy

Detail Description

COL6A2 Gene Ullrich Congenital Muscular Dystrophy NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ullrich congenital muscular dystrophy is a rare genetic disorder that affects muscle function. It is caused by mutations in the COL6A2 gene, which provides instructions for making collagen VI, a protein that is essential for the structure and function of muscles.

Symptoms of Ullrich congenital muscular dystrophy can include:

• Muscle weakness and wasting
• Poor muscle tone
• Joint contractures (stiffness)
• Scoliosis (curvature of the spine)
• Breathing difficulties

Diagnosis of Ullrich congenital muscular dystrophy typically involves a physical exam, medical history review, and genetic testing. DNA Labs India offers a Next-Generation Sequencing (NGS) Genetic DNA Test that can detect mutations in the COL6A2 gene, allowing for early diagnosis and treatment.

Our NGS Genetic DNA Test is affordable at INR 20000 and provides accurate results within a short turnaround time. It is a non-invasive, painless procedure that requires only a small sample of blood or saliva.

Early diagnosis and treatment of Ullrich congenital muscular dystrophy can improve outcomes and quality of life for individuals living with the condition. Contact DNA Labs India today to learn more about our NGS Genetic DNA Test and how it can help diagnose Ullrich congenital muscular dystrophy.

Ullrich Congenital Muscular Dystrophy (UCMD) is a rare genetic disorder that primarily affects muscles and connective tissues. It falls under the category of collagen VI-related myopathies. Mutations in genes related to collagen VI, including COL6A2, can lead to the development of Ullrich Congenital Muscular Dystrophy.

Next-Generation Sequencing (NGS) technology can be utilized for genetic testing to identify mutations or variants in genes like COL6A2 that are associated with Ullrich Congenital Muscular Dystrophy. NGS allows for the analysis of multiple genes simultaneously, making it a powerful tool for diagnosing and understanding genetic disorders.

If you suspect Ullrich Congenital Muscular Dystrophy or have a family history of this condition, it's recommended to consult with a medical professional or genetic counselor. They can guide you through the testing process, interpret the results, and provide personalized recommendations based on your specific situation.

Genetic testing, including NGS, can be crucial for accurate diagnosis, treatment planning, and genetic counseling for families affected by rare disorders like Ullrich Congenital Muscular Dystrophy. It's important to work with knowledgeable healthcare professionals to ensure that you receive the most accurate and up-to-date information.