Short Description

NGS genetic DNA test detecets for variant and mutation detection in LMNA gene for Limb-girdle muscular dystrophy, autosomal dominant type 1B

PreTest Information

Clinical History of Patient who is going for LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B

Detail Description

LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic DNA Test

LMNA gene limb-girdle muscular dystrophy, autosomal dominant type 1B is a rare genetic disorder that affects the muscles. This disorder is caused by mutations in the LMNA gene, which provides instructions for making a protein called lamin A/C. Lamin A/C is found in the nucleus of cells and is essential for maintaining the structure of the nucleus.

Symptoms of LMNA gene limb-girdle muscular dystrophy, autosomal dominant type 1B may include:

• Muscle weakness and wasting, particularly in the hips and shoulders
• Difficulty walking or running
• Frequent falls
• Loss of muscle mass
• Pain and stiffness in the muscles
• Contractures (abnormal shortening of the muscles)

Diagnosis of LMNA gene limb-girdle muscular dystrophy, autosomal dominant type 1B is typically done through a genetic test. Next-generation sequencing (NGS) genetic DNA testing is the most accurate and reliable method for detecting mutations in the LMNA gene. This test involves analyzing the entire LMNA gene for mutations.

The cost of LMNA gene limb-girdle muscular dystrophy, autosomal dominant type 1B NGS genetic DNA testing in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and location.

If you or a loved one is experiencing symptoms of LMNA gene limb-girdle muscular dystrophy, autosomal dominant type 1B, it is important to seek medical attention and consider genetic testing. Early diagnosis and treatment can help manage symptoms and improve quality of life.

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 LMNA Gene Limb-girdle muscular dystrophy, autosomal dominant type 1B NGS Genetic DNA Test