Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTAP gene for Myopathy, limb girdle with bone fragility

PreTest Information

Clinical History of Patient who is going for MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTAP Gene Myopathy, limb girdle with bone fragility

Detail Description

MTAP Gene Myopathy: Limb Girdle with Bone Fragility NGS Genetic DNA Test

MTAP Gene Myopathy is a rare genetic disorder that affects muscle and bone strength. It is caused by mutations in the MTAP gene, which codes for an enzyme that is involved in the metabolism of a compound called methylthioadenosine. This disorder is characterized by limb girdle muscle weakness and bone fragility.

Symptoms of MTAP Gene Myopathy

The symptoms of MTAP Gene Myopathy can vary from person to person. Some of the common symptoms include:

• Limb girdle muscle weakness
• Difficulty in walking and climbing stairs
• Frequent falls
• Bone fragility and fractures
• Joint pain and stiffness
• Respiratory problems
• Difficulty swallowing

Diagnosis of MTAP Gene Myopathy

MTAP Gene Myopathy can be diagnosed through genetic testing. NGS Genetic DNA Test is the most reliable and accurate test for the diagnosis of this disorder. This test analyzes the DNA sequence of the MTAP gene and identifies any mutations or abnormalities that may be present. This test can also be used for carrier testing and prenatal diagnosis.

Cost of NGS Genetic DNA Test for MTAP Gene Myopathy

The cost of NGS Genetic DNA Test for MTAP Gene Myopathy in India is around INR 20,000. This test is available at DNA Labs India, which is a leading provider of genetic testing services in the country.

Conclusion

MTAP Gene Myopathy is a rare genetic disorder that affects muscle and bone strength. It can be diagnosed through NGS Genetic DNA Test, which is available at DNA Labs India. The cost of this test is INR 20,000. Early diagnosis and treatment can help manage the symptoms and improve the quality of life of the affected individuals.

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 MTAP Gene Myopathy, limb girdle with bone fragility NGS Genetic DNA Test