Short Description

NGS genetic DNA test detecets for variant and mutation detection in MTMR2 gene for CMT4B1

PreTest Information

Clinical History of Patient who is going for MTMR2 Gene CMT4B1 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with MTMR2 Gene CMT4B1

Detail Description

MTMR2 Gene CMT4B1 NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

Charcot-Marie-Tooth disease (CMT) is a group of inherited neurological disorders that cause damage to the peripheral nerves, resulting in muscle weakness and atrophy, as well as sensory loss. One form of CMT, CMT4B1, is caused by mutations in the MTMR2 gene. This gene provides instructions for making an enzyme that plays a role in the breakdown of certain fats in cells. Mutations in this gene result in the production of a non-functional enzyme, which leads to the accumulation of fats in the cells and the destruction of the myelin sheath that covers and protects the nerve fibers.

NGS (next-generation sequencing) is a technique used to analyze the entire MTMR2 gene for mutations. This test can detect changes in the DNA sequence, including point mutations, insertions, deletions, and duplications. The NGS test for MTMR2 gene mutations is available at DNA Labs India and costs INR 20,000.

Symptoms of CMT4B1

The symptoms of CMT4B1 can vary depending on the severity of the disease and the age of onset. The most common symptoms include:

• Muscle weakness and atrophy, especially in the lower legs and feet
• Difficulty walking or running
• Numbness or tingling in the hands and feet
• Pain in the feet or legs
• Difficulty with fine motor skills, such as writing or buttoning clothes

Diagnosis of CMT4B1

Diagnosis of CMT4B1 typically involves a physical exam, neurological exam, and genetic testing. The physical exam may reveal muscle weakness and atrophy, as well as reduced reflexes. The neurological exam may reveal sensory loss and abnormal nerve conduction velocity. Genetic testing can confirm the presence of mutations in the MTMR2 gene.

If you or a loved one is experiencing symptoms of CMT4B1, it is important to seek medical attention and get a proper diagnosis. Early diagnosis and treatment can help to slow the progression of the disease and improve quality of life.

Conclusion

The NGS test for MTMR2 gene mutations is a valuable tool for diagnosing CMT4B1. It is a non-invasive and relatively affordable test that can provide important information about the underlying cause of the disease. If you suspect that you or a loved one may have CMT4B1, talk to your doctor about genetic testing and referral to a specialist.

At DNA Labs India, we are committed to providing accurate and reliable genetic testing services to our clients. Contact us today to learn more about our NGS test for MTMR2 gene mutations.

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 MTMR2 Gene CMT4B1 NGS Genetic DNA Test