Short Description

NGS genetic DNA test detecets for variant and mutation detection in MYOT gene for Myotilinopathy

PreTest Information

Clinical History of Patient who is going for MYOT Gene Myotilinopathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MYOT Gene Myotilinopathy

Detail Description

MYOT Gene Myotilinopathy NGS Genetic DNA Test: Symptoms, Diagnosis and Cost in India

MYOT gene myotilinopathy is a rare genetic disorder that affects the muscles and causes muscle weakness and wasting. It is caused by mutations in the MYOT gene, which provides instructions for making the myotilin protein that is essential for the normal functioning of the muscles. The disorder is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the disorder.

Symptoms of MYOT Gene Myotilinopathy

The symptoms of MYOT gene myotilinopathy can vary widely from person to person, even among members of the same family. Some of the common symptoms include:

• Muscle weakness and wasting
• Difficulty in walking and standing up from a sitting position
• Difficulty in breathing due to weakness of the respiratory muscles
• Difficulty in swallowing due to weakness of the muscles in the throat
• Abnormal curvature of the spine (scoliosis)
• Joint contractures (stiffness) in the elbows, hips, knees, and ankles

Diagnosis of MYOT Gene Myotilinopathy

The diagnosis of MYOT gene myotilinopathy is based on the symptoms, family history, and genetic testing. A physical examination may reveal muscle weakness, wasting, and contractures. An electromyography (EMG) test may be done to assess the electrical activity of the muscles. A muscle biopsy may be performed to examine the muscle tissue under a microscope. Genetic testing is the most reliable way to confirm the diagnosis and identify the specific mutation in the MYOT gene.

NGS Genetic DNA Test for MYOT Gene Myotilinopathy

The next-generation sequencing (NGS) genetic DNA test is a comprehensive test that can identify mutations in the MYOT gene that cause myotilinopathy. The test uses advanced technology to sequence the entire MYOT gene and detect even subtle changes in the DNA sequence. The NGS genetic DNA test is highly accurate and reliable, and can detect mutations in the MYOT gene that may be missed by other genetic tests.

Cost of MYOT Gene Myotilinopathy NGS Genetic DNA Test in India

The cost of the MYOT gene myotilinopathy NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory and the specific tests included in the package. Some laboratories may offer additional tests, such as genetic counseling and interpretation of the test results, at an additional cost.

Conclusion

MYOT gene myotilinopathy is a rare genetic disorder that can cause significant muscle weakness and wasting. The disorder is inherited in an autosomal dominant pattern and can be diagnosed through genetic testing. The NGS genetic DNA test is a comprehensive test that can accurately detect mutations in the MYOT gene. The cost of the test may vary depending on the laboratory and the specific tests included in the package.

If you or someone you know is experiencing symptoms of MYOT gene myotilinopathy, it is important to seek medical attention and genetic testing to confirm the diagnosis and receive appropriate treatment and management. DNA Labs India offers reliable and affordable genetic testing services for a wide range of genetic disorders, including MYOT gene myotilinopathy.

Contact DNA Labs India today to learn more about our genetic testing services and schedule an appointment.

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 MYOT Gene Myotilinopathy NGS Genetic DNA Test