Short Description

NGS genetic DNA test detecets for variant and mutation detection in KBTBD13 gene for Nemaline myopathy type 6

PreTest Information

Clinical History of Patient who is going for KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with KBTBD13 Gene Nemaline myopathy type 6

Detail Description

KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Are you or a loved one experiencing muscle weakness or difficulty in movement? Nemaline myopathy type 6 is a rare genetic disorder that affects muscle function. It is caused by mutations in the KBTBD13 gene. The good news is that with the advancement of technology, DNA testing has become more accessible and cost-effective. DNA Labs India offers a KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test at an affordable cost of INR 20,000.

What is Nemaline Myopathy Type 6?

Nemaline myopathy type 6 is a type of nemaline myopathy, a group of rare genetic disorders that affect muscle function. It is caused by mutations in the KBTBD13 gene, which provides instructions for making a protein that is important for muscle function. This gene is located on chromosome 15.

Symptoms of Nemaline myopathy type 6 typically appear in infancy or early childhood. They include:

• Muscle weakness
• Hypotonia (low muscle tone)
• Poor muscle tone
• Delayed motor milestones (such as crawling or walking)
• Difficulty breathing or swallowing
• Scoliosis (curvature of the spine)

How is Nemaline Myopathy Type 6 Diagnosed?

Nemaline myopathy type 6 can be diagnosed through genetic testing. The KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test offered by DNA Labs India is a Next-Generation Sequencing (NGS) test that looks for mutations in the KBTBD13 gene. This test is highly accurate and can detect mutations that may not be found through other types of genetic testing.

The test requires a small blood or saliva sample, which is sent to the DNA Labs India laboratory for analysis. Results are typically available within 2-3 weeks.

Cost of KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test

The cost of the KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test offered by DNA Labs India is INR 20,000. This is a relatively affordable price compared to other genetic tests and can help provide a definitive diagnosis for individuals with symptoms of nemaline myopathy type 6.

Conclusion

Nemaline myopathy type 6 is a rare genetic disorder that affects muscle function. The KBTBD13 Gene Nemaline Myopathy Type 6 NGS Genetic DNA Test offered by DNA Labs India can provide a definitive diagnosis for individuals with symptoms of this condition. The test is highly accurate and affordable, making it accessible to more people. If you or a loved one are experiencing symptoms of nemaline myopathy type 6, consider getting tested to get the answers you need.

For more information about DNA testing and genetic disorders, visit the DNA Labs India website.

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 KBTBD13 Gene Nemaline myopathy type 6 NGS Genetic DNA Test