Short Description

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

PreTest Information

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

Detail Description

SGCA Gene Limb-girdle Muscular Dystrophy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost in India

Limb-girdle muscular dystrophy (LGMD) is a group of inherited muscle disorders that affect the muscles in the hip and shoulder areas. The SGCA gene is one of the genes that can cause LGMD, specifically autosomal recessive type 2D (LGMD2D). This type of LGMD is caused by mutations in the SGCA gene, which provides instructions for making a protein called alpha-sarcoglycan. This protein is important for maintaining the structure and function of muscles.

Symptoms of SGCA Gene Limb-girdle Muscular Dystrophy

The symptoms of LGMD2D can vary widely from person to person, even within the same family. Generally, the disease progresses slowly and affects both the upper and lower muscles of the body. Some common symptoms of LGMD2D include:

• Difficulty walking and running
• Frequent falls
• Weakness in the hip and shoulder muscles
• Difficulty raising the arms above the head
• Difficulty climbing stairs or standing up from a seated position
• Enlargement of the calf muscles

LGMD2D usually appears in childhood or adolescence, but can also appear in adulthood. The severity of the symptoms can also vary widely, even among family members with the same mutation.

Diagnosis of SGCA Gene Limb-girdle Muscular Dystrophy

LGMD2D can be difficult to diagnose, as its symptoms are similar to those of other muscle diseases. A diagnosis is usually made through a combination of physical examination, genetic testing, and muscle biopsy.

During a physical examination, a doctor will look for weakness in the hip and shoulder muscles, as well as enlargement of the calf muscles. They may also ask about family history, as LGMD2D is an inherited disease.

Genetic testing can confirm a diagnosis of LGMD2D by identifying mutations in the SGCA gene. This can be done through a variety of methods, including next-generation sequencing (NGS) genetic DNA testing.

NGS Genetic DNA Test Cost for SGCA Gene Limb-girdle Muscular Dystrophy in India

The cost of NGS genetic DNA testing for LGMD2D can vary depending on the lab and the specific test being performed. At DNA Labs India, the cost for NGS genetic DNA testing for LGMD2D is INR 20,000.

This test uses NGS technology to sequence the SGCA gene and identify any mutations that may be causing LGMD2D. Results are typically available within a few weeks.

Conclusion

SGCA gene limb-girdle muscular dystrophy, autosomal recessive type 2D is a rare genetic disease that can cause muscle weakness and disability. Symptoms can vary widely, and a diagnosis can be difficult to make. However, with the help of genetic testing, a diagnosis can be confirmed, and treatment can be tailored to the individual's needs. At DNA Labs India, we offer NGS genetic DNA testing for LGMD2D at an affordable cost to help individuals and families get the answers they need.

Contact us today to learn more about our NGS genetic DNA testing services.

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 SGCA Gene Limb-girdle muscular dystrophy, autosomal recessive type 2D NGS Genetic DNA Test