Short Description

NGS genetic DNA test detecets for variant and mutation detection in COL6A1 gene for Ullrich congenital muscular dystrophy

PreTest Information

Clinical History of Patient who is going for COL6A1 Gene Ullrich congenital muscular dystrophy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with COL6A1 Gene Ullrich congenital muscular dystrophy

Detail Description

Understanding Ullrich Congenital Muscular Dystrophy and the Role of COL6A1 Gene

Ullrich congenital muscular dystrophy (UCMD) is a rare genetic disorder that affects muscle development and function. It is caused by mutations in the COL6A1 gene, which provides instructions for making a protein called collagen VI. Collagen VI is essential for maintaining the structure and function of muscles, particularly the connective tissue that surrounds muscle fibers.

UCMD is typically diagnosed in infancy or early childhood and is characterized by muscle weakness and stiffness, delayed motor milestones, and joint contractures. Individuals with UCMD may also experience respiratory difficulties and scoliosis. The severity of symptoms can vary widely, and some individuals may have a milder form of the condition.

Diagnosis of UCMD

UCMD can be diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. Genetic testing can identify mutations in the COL6A1 gene, which confirms a diagnosis of UCMD. Next-generation sequencing (NGS) is a powerful tool that can analyze multiple genes simultaneously, making it an efficient and cost-effective way to diagnose genetic disorders like UCMD.

NGS Genetic DNA Test for COL6A1 Gene Mutations

NGS genetic testing for UCMD typically focuses on the COL6A1 gene, as mutations in this gene account for the majority of UCMD cases. The cost of NGS genetic testing for UCMD in India is typically around INR 20,000, depending on the specific testing provider and the number of genes included in the analysis.

NGS genetic testing for UCMD can be performed using a variety of sample types, including blood, saliva, and tissue biopsies. The testing process typically involves extracting DNA from the sample, amplifying and sequencing the COL6A1 gene, and analyzing the results for mutations or other genetic changes that could cause UCMD.

Conclusion

UCMD is a rare genetic disorder that can have a significant impact on an individual's quality of life. Genetic testing, including NGS genetic testing for mutations in the COL6A1 gene, can help diagnose UCMD and guide appropriate medical management and genetic counseling. The cost of NGS genetic testing for UCMD in India is generally affordable, making it an accessible option for individuals and families affected by this condition.

If you suspect that you or a loved one may have UCMD or have questions about genetic testing, contact DNA Labs India for more information.