Short Description

NGS genetic DNA test detecets for variant and mutation detection in TTN gene for Limb-girdle muscular dystrophy, autosomal recessive type 2J

PreTest Information

Clinical History of Patient who is going for TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J

Detail Description

TTN Gene Limb-girdle Muscular Dystrophy, Autosomal Recessive Type 2J NGS Genetic DNA Test

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that affect the muscles in the shoulders and hips. Autosomal recessive type 2J (LGMD2J) is a rare form of LGMD caused by mutations in the TTN gene. The TTN gene provides instructions for making a protein called titin, which is important for the structure and function of muscle fibers.

Symptoms

LGMD2J typically begins in childhood or adolescence, but can also appear in adulthood. The first symptoms may include difficulty running, climbing stairs, or lifting objects. As the disease progresses, muscle weakness and wasting become more severe, affecting the ability to walk and perform daily activities. The muscles in the shoulders, hips, and upper arms are most commonly affected.

Diagnosis

Diagnosis of LGMD2J involves a combination of clinical evaluation, genetic testing, and muscle biopsy. A physical exam may reveal muscle weakness and wasting, and blood tests can rule out other conditions. Genetic testing can confirm the presence of mutations in the TTN gene. Muscle biopsy involves removing a small sample of muscle tissue and examining it under a microscope to look for characteristic changes.

NGS Genetic DNA Test

Next-generation sequencing (NGS) is a powerful tool for genetic testing that can analyze multiple genes at once. DNA Labs India offers an NGS genetic DNA test for LGMD that includes analysis of the TTN gene. This test can identify mutations in the TTN gene that are associated with LGMD2J, providing a definitive diagnosis. The cost of the LGMD NGS genetic DNA test is INR 20,000.

Conclusion

LGMD2J is a rare form of muscular dystrophy that is caused by mutations in the TTN gene. Symptoms include muscle weakness and wasting that typically begin in childhood or adolescence. Diagnosis involves a combination of clinical evaluation, genetic testing, and muscle biopsy. DNA Labs India offers an NGS genetic DNA test for LGMD that can identify mutations in the TTN gene. Early diagnosis can help individuals and families plan for management and support.

Contact DNA Labs India to learn more about genetic testing for LGMD and other genetic conditions.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TTN Gene Limb-girdle muscular dystrophy, autosomal recessive type 2J NGS Genetic DNA Test