Short Description

NGS genetic DNA test detecets for variant and mutation detection in SYNE1 gene for Emery-Dreifuss muscular dystrophy type 4

PreTest Information

Clinical History of Patient who is going for SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4

Detail Description

SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4 NGS Genetic DNA Test

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and the heart. It is caused by mutations in several genes, including the SYNE1 gene. SYNE1 gene mutations are associated with EDMD type 4, which is characterized by muscle weakness and wasting, joint contractures, and cardiac abnormalities.

Symptoms of SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4

The symptoms of SYNE1 gene Emery-Dreifuss muscular dystrophy type 4 can vary widely, but usually include:

• Muscle weakness and wasting, especially in the upper arms and lower legs
• Joint contractures, which can cause stiffness and limited range of motion in the joints
• Cardiac abnormalities, including arrhythmias and heart failure
• Skeletal abnormalities, such as scoliosis and foot deformities
• Difficulty walking, running, or performing other activities that require muscle strength and coordination

Diagnosis of SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4

Diagnosing SYNE1 gene Emery-Dreifuss muscular dystrophy type 4 typically involves a combination of clinical evaluation, genetic testing, and imaging studies. A doctor may perform a physical exam to assess muscle strength and range of motion, and may order tests such as:

• Electromyography (EMG), which measures the electrical activity of muscles
• Muscle biopsy, which involves removing a small sample of muscle tissue for analysis
• Genetic testing, which can identify mutations in the SYNE1 gene
• Imaging studies, such as magnetic resonance imaging (MRI) or echocardiography, which can reveal structural abnormalities in the muscles and heart

NGS Genetic DNA Test for SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4

A next-generation sequencing (NGS) genetic DNA test can detect mutations in the SYNE1 gene that are associated with Emery-Dreifuss muscular dystrophy type 4. This test uses advanced technology to analyze DNA samples and identify specific genetic changes that may be causing the disorder.

Cost of NGS Genetic DNA Test for SYNE1 Gene Emery-Dreifuss Muscular Dystrophy Type 4

The cost of an NGS genetic DNA test for SYNE1 gene Emery-Dreifuss muscular dystrophy type 4 can vary depending on the laboratory and the specific test being performed. In India, the cost of this test typically ranges from INR 15,000 to INR 25,000.

Conclusion

SYNE1 gene Emery-Dreifuss muscular dystrophy type 4 is a rare genetic disorder that can cause muscle weakness, joint contractures, and cardiac abnormalities. Diagnosis typically involves a combination of clinical evaluation, genetic testing, and imaging studies. An NGS genetic DNA test can detect mutations in the SYNE1 gene that are associated with this disorder, and the cost of this test in India typically ranges from INR 15,000 to INR 25,000.

If you or a loved one are experiencing symptoms of Emery-Dreifuss muscular dystrophy type 4, it is important to speak with a healthcare professional and consider genetic testing to help guide diagnosis and treatment.

At DNA Labs India, we offer NGS genetic DNA testing for Emery-Dreifuss muscular dystrophy type 4 and other genetic disorders. Our team of experienced professionals is dedicated to providing accurate and timely testing services to help patients and their families understand their genetic risks and make informed decisions about their healthcare.

Contact us today to learn more about our genetic testing services and how we can help you.

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 SYNE1 Gene Emery-Dreifuss muscular dystrophy type 4 NGS Genetic DNA Test