Short Description

NGS genetic DNA test detecets for variant and mutation detection in LMNA gene for Emery-Dreifuss muscular dystrophy type 2

PreTest Information

Clinical History of Patient who is going for LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with LMNA Gene Emery-Dreifuss muscular dystrophy type 2

Detail Description

LMNA Gene Emery-Dreifuss Muscular Dystrophy Type 2 NGS Genetic DNA Test Cost INR 20,000: Symptoms and Diagnosis

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects muscles and bones. The disease is caused by mutations in the LMNA gene, which provides instructions for making a protein called lamin A/C. Lamin A/C helps maintain the shape and stability of the nucleus in muscle cells. Mutations in the LMNA gene disrupt the normal structure of the nucleus, leading to muscle weakness and wasting.

Symptoms of EDMD Type 2

EDMD type 2 is a specific form of the disease that is caused by mutations in the LMNA gene. The symptoms of EDMD type 2 usually begin in childhood or adolescence and worsen over time. Some of the most common symptoms of EDMD type 2 include:

• Muscle weakness and wasting, especially in the shoulders, upper arms, and lower legs
• Contractures, or stiff joints, especially in the elbows, ankles, and neck
• Heart problems, such as arrhythmias and cardiomyopathy

Diagnosis of EDMD Type 2

EDMD type 2 is diagnosed through a combination of physical exams, medical history, and genetic testing. A doctor may perform a muscle biopsy to examine the structure of muscle cells and look for signs of muscle wasting. Genetic testing can confirm the presence of mutations in the LMNA gene.

NGS Genetic DNA Test for LMNA Gene

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations. NGS technology allows for the rapid and accurate sequencing of DNA, making it an ideal method for diagnosing genetic disorders like EDMD type 2.

The LMNA gene NGS genetic DNA test is a specific test that looks for mutations in the LMNA gene. The test is performed on a blood sample and is usually covered by insurance. The cost of the test is INR 20,000.

Conclusion

EDMD type 2 is a rare genetic disorder that affects muscles and bones. The disease is caused by mutations in the LMNA gene, which disrupts the normal structure of the nucleus in muscle cells. Symptoms of EDMD type 2 include muscle weakness and wasting, contractures, and heart problems. The disease is diagnosed through a combination of physical exams, medical history, and genetic testing. The LMNA gene NGS genetic DNA test is a specific test that looks for mutations in the LMNA gene and is an effective way to diagnose EDMD type 2. The cost of the test is INR 20,000.

If you or a loved one is experiencing symptoms of EDMD type 2, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Contact DNA Labs India for more information about the LMNA gene NGS genetic DNA test.

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 LMNA Gene Emery-Dreifuss muscular dystrophy type 2 NGS Genetic DNA Test