Short Description

NGS genetic DNA test detecets for variant and mutation detection in POMK gene for Muscle-eye-brain disease, POMK related

PreTest Information

Clinical History of Patient who is going for POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with POMK Gene Muscle-eye-brain disease, POMK related

Detail Description

POMK Gene Muscle-eye-brain Disease | DNA Labs India

Muscle-eye-brain disease (MEB) is a rare genetic disorder that affects the muscles, eyes, and brain. It is caused by mutations in the POMK gene, which is responsible for the production of a protein that helps with the development of brain cells and muscle tissues. This disease is characterized by symptoms such as muscle weakness, vision problems, and intellectual disability.

NGS Genetic DNA Test for POMK Gene

If you suspect that you or a loved one may have MEB, you can get tested for the POMK gene mutation through a Next-Generation Sequencing (NGS) genetic test. DNA Labs India offers this test at a cost of INR 20,000. The test involves analyzing your DNA sample to determine if there are any mutations in the POMK gene that may be causing your symptoms.

Symptoms of POMK Gene Muscle-eye-brain Disease

The symptoms of MEB can vary from person to person, but some common symptoms include:

• Muscle weakness and stiffness
• Difficulty walking or standing
• Delayed motor development
• Intellectual disability
• Seizures
• Eye abnormalities

Diagnosis of POMK Gene Muscle-eye-brain Disease

If you are experiencing any of the symptoms of MEB, it is important to see a doctor for an accurate diagnosis. Your doctor may perform a physical exam, neurological exam, and genetic testing to determine if you have MEB and the specific mutation causing your symptoms.

Treatment for POMK Gene Muscle-eye-brain Disease

There is currently no cure for MEB, but treatment options are available to help manage symptoms and improve quality of life. Treatment may include physical therapy, occupational therapy, speech therapy, and medications to control seizures and muscle stiffness. It is important to work closely with a healthcare provider to develop a treatment plan tailored to your specific needs.

Conclusion

If you suspect that you or a loved one may have MEB, it is important to seek medical attention and consider getting tested for the POMK gene mutation. DNA Labs India offers a NGS genetic DNA test for POMK gene at an affordable cost. Early diagnosis and treatment can help improve quality of life for those affected by this rare genetic disorder.

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 POMK Gene Muscle-eye-brain disease, POMK related NGS Genetic DNA Test