Short Description

NGS genetic DNA test detecets for variant and mutation detection in RBCK1 gene for Polyglucosan body myopathy type 1 with or without immunodeficiency

PreTest Information

Clinical History of Patient who is going for RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency

Detail Description

RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or without Immunodeficiency NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Polyglucosan body myopathy type 1 is a rare genetic disorder that affects the muscles and the immune system. This disorder is caused by mutations in the RBCK1 gene, which is responsible for the production of a protein that helps to break down glycogen in the body. When this protein is not produced correctly, glycogen accumulates in the muscles and other tissues, leading to muscle weakness and other symptoms.

Symptoms of RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or without Immunodeficiency

The symptoms of RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency can vary from person to person. Some of the common symptoms include:

• Muscle weakness and wasting
• Fatigue
• Difficulty walking and climbing stairs
• Difficulty swallowing
• Respiratory problems
• Immunodeficiency

Diagnosis of RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or without Immunodeficiency

The diagnosis of RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency is typically made through a combination of clinical examination, genetic testing, and muscle biopsy. A muscle biopsy can show the presence of glycogen accumulation in the muscles, which is a hallmark of the disorder. Genetic testing can confirm the presence of mutations in the RBCK1 gene.

NGS Genetic DNA Test Cost for RBCK1 Gene Polyglucosan Body Myopathy Type 1 with or without Immunodeficiency

The NGS genetic DNA test for RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency is a specialized test that uses next-generation sequencing technology to analyze the RBCK1 gene and look for mutations. The cost of this test is typically around INR 20,000 in India. However, the cost may vary depending on the testing facility and other factors.

Conclusion

RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency is a rare genetic disorder that can cause muscle weakness, fatigue, and other symptoms. Diagnosis typically involves a combination of clinical examination, genetic testing, and muscle biopsy. The NGS genetic DNA test for RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency can be a useful tool for confirming a diagnosis. If you suspect that you or a loved one may have this disorder, it is important to seek medical advice and testing.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS genetic DNA test for RBCK1 gene polyglucosan body myopathy type 1 with or without immunodeficiency. Our team of highly trained professionals can help you understand your test results and provide guidance on treatment and management options. Contact us today to learn more.

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 RBCK1 Gene Polyglucosan body myopathy type 1 with or without immunodeficiency NGS Genetic DNA Test