Short Description

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

PreTest Information

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

Detail Description

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

Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders that affect the muscles in the limbs and hips. There are several types of LGMD, and one of them is LGMD2E, which is caused by mutations in the SGCB gene. LGMD2E is an autosomal recessive disorder, which means that a person needs to inherit two copies of the mutated gene – one from each parent – to develop the disease.

Symptoms of LGMD2E

The symptoms of LGMD2E usually appear in childhood or adolescence, and they may include:

• Muscle weakness and wasting, especially in the hips and shoulders
• Difficulty walking and climbing stairs
• Frequent falls
• Progressive muscle weakness, which can lead to wheelchair dependence in some cases
• Cardiomyopathy (heart muscle disease) in some cases

Diagnosis of LGMD2E

LGMD2E can be diagnosed through a combination of clinical examination, muscle biopsy, and genetic testing. A muscle biopsy can show changes in muscle fibers and connective tissue that are characteristic of muscular dystrophy. Genetic testing can confirm the presence of mutations in the SGCB gene.

NGS Genetic DNA Test for LGMD2E

Next-generation sequencing (NGS) is a powerful tool for genetic testing that allows the simultaneous analysis of multiple genes. NGS can be used to sequence the SGCB gene and identify mutations that cause LGMD2E. The cost of NGS genetic DNA test for LGMD2E in India is around INR 20,000.

Conclusion

LGMD2E is a rare but debilitating genetic disorder that affects the muscles in the limbs and hips. Early diagnosis is important for the management of symptoms and to prevent complications. NGS genetic DNA testing can help identify mutations in the SGCB gene and confirm the diagnosis of LGMD2E.

If you suspect that you or a loved one may have LGMD2E, it is important to consult a genetic counselor or a healthcare professional for evaluation and testing.

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 SGCB Gene Limb-girdle muscular dystrophy, autosomal recessive type 2E NGS Genetic DNA Test