Short Description

NGS genetic DNA test detecets for variant and mutation detection in SYNE2 gene for Emery-Dreifuss muscular dystrophy type 5

PreTest Information

Clinical History of Patient who is going for SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5

Detail Description

SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 NGS Genetic DNA Test

Emery-Dreifuss muscular dystrophy (EDMD) is a rare genetic disorder that affects the muscles and joints. It is caused by mutations in one of several genes, including the SYNE2 gene. SYNE2 gene mutations are associated with EDMD type 5, which is a rare subtype of the disorder.

The SYNE2 gene provides instructions for making a protein called Nesprin-2. Nesprin-2 is involved in maintaining the structure and function of muscle cells. Mutations in the SYNE2 gene can disrupt the production or function of Nesprin-2, leading to muscle weakness and wasting.

Symptoms of SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5

The symptoms of SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 can vary widely depending on the severity of the disease and the age at which it develops. Some of the most common symptoms include:

• Muscle weakness and wasting, particularly in the shoulders, upper arms, and lower legs
• Joint stiffness and contractures, which can make movement difficult
• Heart problems, such as arrhythmias and cardiomyopathy
• Scoliosis, or curvature of the spine
• Difficulty breathing, particularly during sleep

Diagnosis of SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5

Diagnosing SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 typically involves a combination of clinical exams, genetic testing, and imaging studies. A physical exam may reveal muscle weakness, joint stiffness, or other signs of the disease. Genetic testing, such as next-generation sequencing (NGS), can identify mutations in the SYNE2 gene that are associated with EDMD type 5. Imaging studies, such as magnetic resonance imaging (MRI), may be used to assess muscle and joint function.

NGS Genetic DNA Test for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5

The NGS Genetic DNA test for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 is a diagnostic tool that can identify mutations in the SYNE2 gene. This test involves sequencing the entire SYNE2 gene to look for changes or variations that may be associated with EDMD type 5. The test can be performed on a blood or tissue sample, and typically takes several weeks to complete.

Cost of NGS Genetic DNA Test for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5

The cost of the NGS Genetic DNA test for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 can vary depending on the laboratory performing the test and other factors. At DNA Labs India, the cost of this test is INR 20,000.

Conclusion

Syne2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 is a rare genetic disorder that affects the muscles and joints. Symptoms of this disease include muscle weakness and wasting, joint stiffness and contractures, heart problems, scoliosis, and difficulty breathing. Diagnosis typically involves clinical exams, genetic testing, and imaging studies. The NGS Genetic DNA test for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5 is a diagnostic tool that can identify mutations in the SYNE2 gene, and it costs INR 20,000 at DNA Labs India.

If you suspect that you or someone you know may have SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5, it is important to seek medical attention and genetic testing. Early diagnosis and treatment can help manage symptoms and improve quality of life.

Contact DNA Labs India for more information on genetic testing for SYNE2 Gene Emery-Dreifuss Muscular Dystrophy Type 5.

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 SYNE2 Gene Emery-Dreifuss muscular dystrophy type 5 NGS Genetic DNA Test