Short Description

NGS genetic DNA test detecets for variant and mutation detection in DNAJB6 gene for Limb-girdle muscular dystrophy, autosomal dominant type 1E

PreTest Information

Clinical History of Patient who is going for DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DNAJB6 Gene Limb-girdle muscular dystrophy, autosomal dominant type 1E

Detail Description

DNAJB6 Gene Limb-girdle Muscular Dystrophy: Symptoms, Diagnosis and NGS Genetic DNA Test Cost

DNAJB6 Gene Limb-girdle muscular dystrophy is a rare genetic disorder that affects the muscles in the hips and shoulders. It is an autosomal dominant type 1E disorder, which means that it can be passed down from one generation to the next.

Symptoms

The symptoms of DNAJB6 Gene Limb-girdle muscular dystrophy usually begin in early adulthood, but can sometimes start in childhood or later in life. The symptoms include:

• Weakness in the muscles of the hips and shoulders
• Difficulty with walking, running, and climbing stairs
• Difficulty lifting objects or raising arms above the head
• Muscle pain and stiffness
• Fatigue

The symptoms can vary in severity from person to person. Some people may have mild symptoms that do not significantly affect their daily life, while others may have more severe symptoms that limit their mobility and independence.

Diagnosis

DNAJB6 Gene Limb-girdle muscular dystrophy is diagnosed through a combination of physical examination, medical history, and genetic testing. The doctor will perform a physical exam to assess muscle strength and mobility, and may order imaging tests such as an MRI or CT scan to evaluate muscle damage.

Genetic testing is the most definitive way to diagnose DNAJB6 Gene Limb-girdle muscular dystrophy. This involves analyzing a sample of the patient's DNA to look for mutations or changes in the DNAJB6 gene.

NGS Genetic DNA Test Cost

The cost of NGS Genetic DNA testing for DNAJB6 Gene Limb-girdle muscular dystrophy in India is around INR 20,000. This may vary depending on the specific testing facility and location. It is important to check with the testing facility and insurance provider to determine if the cost is covered by insurance or if there are any financial assistance options available.

Conclusion

DNAJB6 Gene Limb-girdle muscular dystrophy is a rare genetic disorder that can have significant impacts on a person's mobility and independence. Early diagnosis and treatment can help manage symptoms and improve quality of life. If you or a loved one are experiencing symptoms of DNAJB6 Gene Limb-girdle muscular dystrophy, it is important to speak with a healthcare provider about genetic testing and treatment options.

At DNA Labs India, we offer high-quality NGS Genetic DNA testing services to help diagnose genetic disorders such as DNAJB6 Gene Limb-girdle muscular dystrophy. Contact us today to learn more.