Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL12A1 gene for Ullrich congenital muscular dystrophy type 2

PreTest Information

Clinical History of Patient who is going for COL12A1 Gene Ullrich congenital muscular dystrophy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL12A1 Gene Ullrich congenital muscular dystrophy type 2

Detail Description

DNA Labs India - COL12A1 Gene Ullrich Congenital Muscular Dystrophy Type 2 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Ullrich congenital muscular dystrophy type 2 is a rare genetic disorder that affects the muscles and causes muscle weakness and wasting. This disorder is caused by mutations in the COL12A1 gene.

Symptoms of Ullrich Congenital Muscular Dystrophy Type 2

The symptoms of Ullrich congenital muscular dystrophy type 2 can vary from person to person. Some of the common symptoms include:

• Muscle weakness
• Muscle wasting
• Joint contractures
• Scoliosis
• Breathing difficulties

Diagnosis of Ullrich Congenital Muscular Dystrophy Type 2

Ullrich congenital muscular dystrophy type 2 can be diagnosed through genetic testing. The COL12A1 gene is responsible for producing a protein that is essential for the proper functioning of muscles. Mutations in this gene can lead to the development of Ullrich congenital muscular dystrophy type 2.

NGS Genetic DNA Test for Ullrich Congenital Muscular Dystrophy Type 2

DNA Labs India offers an NGS Genetic DNA Test for Ullrich congenital muscular dystrophy type 2. This test analyzes the COL12A1 gene and identifies any mutations that may be present. The test is performed using next-generation sequencing (NGS) technology, which allows for a more accurate and comprehensive analysis of the gene.

Cost of NGS Genetic DNA Test for Ullrich Congenital Muscular Dystrophy Type 2

The cost of the NGS Genetic DNA Test for Ullrich congenital muscular dystrophy type 2 is INR 20000. This includes the cost of the test, as well as any necessary counseling and support services.

Conclusion

Ullrich congenital muscular dystrophy type 2 is a rare genetic disorder that can cause significant muscle weakness and wasting. DNA Labs India offers an NGS Genetic DNA Test for this disorder, which can help diagnose the condition and provide valuable information for treatment and management. Contact DNA Labs India today to learn more about this test and how it can benefit you or your loved ones.