Short Description

NGS genetic DNA test detecets for variant and mutation detection in EMD gene for Emery-Dreifuss muscular dystrophy type 1

PreTest Information

Clinical History of Patient who is going for EMD Gene Emery-Dreifuss muscular dystrophy type 1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EMD Gene Emery-Dreifuss muscular dystrophy type 1

Detail Description

EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 is a rare genetic disorder that affects the muscles and the heart. It is caused by mutations in the EMD gene, which provides instructions for making a protein called Emerin. This protein is important for the structure and function of the nucleus of muscle and heart cells.

Symptoms of EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1

The symptoms of EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 usually appear in childhood or adolescence. The most common symptoms include:

• Muscle weakness and wasting, especially in the upper arms and lower legs
• Contractures, or abnormal tightening of muscles and tendons, which can restrict movement
• Heart problems, such as arrhythmias, heart block, and cardiomyopathy

These symptoms can vary in severity and may progress over time.

Diagnosis of EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1

EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 is diagnosed through genetic testing. This usually involves a Next-Generation Sequencing (NGS) genetic DNA test, which looks for mutations in the EMD gene.

The test requires a blood sample or a saliva sample, which is sent to a laboratory for analysis. The results can take several weeks to come back.

Cost of EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA Test

The cost of the EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 NGS Genetic DNA test in India is approximately INR 20,000. However, the cost may vary depending on the laboratory and the location.

Conclusion

EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1 is a rare genetic disorder that can cause muscle weakness, contractures, and heart problems. It is diagnosed through genetic testing, which usually involves a Next-Generation Sequencing (NGS) genetic DNA test. The cost of the test in India is approximately INR 20,000. If you or someone you know is experiencing symptoms of EMD Gene Emery-Dreifuss Muscular Dystrophy Type 1, it is important to consult a healthcare professional for diagnosis and treatment.