Short Description

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

PreTest Information

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

Detail Description

DYSF Gene Limb-girdle muscular dystrophy, autosomal recessive type 2B NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Limb-girdle muscular dystrophy (LGMD) is a progressive genetic disorder that leads to the weakening and wasting of the muscles in the arms and legs. There are several types of LGMD, and one of them is the autosomal recessive type 2B (LGMD2B), which is caused by mutations in the DYSF gene.

The DYSF gene provides instructions for making a protein called dysferlin, which is involved in repairing muscle cells. Without dysferlin, muscle cells are unable to repair themselves properly, leading to their gradual breakdown and eventual death.

Symptoms of LGMD2B

The symptoms of LGMD2B usually start in early adulthood, although they can appear at any age. The initial symptoms are often weakness and wasting of the muscles in the hips and shoulders, which can lead to difficulty standing up from a seated position, climbing stairs, or lifting objects. As the disease progresses, the weakness and wasting spread to the muscles in the arms and legs, making it difficult to perform everyday tasks such as dressing, bathing, and eating.

Diagnosis of LGMD2B

LGMD2B is diagnosed through a combination of physical examination, medical history, and genetic testing. A doctor will typically ask about the patient's symptoms and family history, and may perform a neurological exam to test for muscle weakness and wasting. Genetic testing, such as NGS Genetic DNA Test, can confirm the presence of mutations in the DYSF gene.

NGS Genetic DNA Test cost

The cost of an NGS Genetic DNA Test for LGMD2B can vary depending on the testing facility and location. In India, the cost is typically around INR 20,000.

Conclusion

LGMD2B is a rare genetic disorder that can have a significant impact on a person's quality of life. However, early diagnosis through genetic testing can help patients and their families understand the disease and plan for the future. The NGS Genetic DNA Test is a reliable and cost-effective way to diagnose LGMD2B and other genetic disorders, and is available in many parts of India.

If you suspect that you or a loved one may have LGMD2B, consult with a healthcare professional to discuss genetic testing and other diagnostic options.

At DNA Labs India, we offer a wide range of genetic testing services, including NGS Genetic DNA Test for LGMD2B and other genetic disorders. Contact us today to learn more about our testing services.