Short Description

NGS genetic DNA test detecets for variant and mutation detection in PMP22 gene for CMT1A

PreTest Information

Clinical History of Patient who is going for PMP22 Gene CMT1A NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PMP22 Gene CMT1A

Detail Description

PMP22 Gene CMT1A NGS Genetic DNA Test: Symptoms, Diagnosis, and Cost

DNA Labs India offers a comprehensive PMP22 gene CMT1A NGS genetic DNA test that helps in diagnosing Charcot-Marie-Tooth disease type 1A (CMT1A). This genetic disorder affects the peripheral nerves, causing muscle weakness and wasting. Early diagnosis of CMT1A is crucial for timely treatment and management of symptoms. In this blog, we will discuss the symptoms, diagnosis, and cost of the PMP22 gene CMT1A NGS genetic DNA test offered by DNA Labs India.

Symptoms of CMT1A

The symptoms of CMT1A typically begin in the teenage years or early adulthood. The common symptoms include:

• Muscle weakness in the feet and legs
• Numbness or tingling in the hands and feet
• Difficulty in walking
• Loss of muscle mass in the lower legs
• High-arched feet or flat feet
• Hammertoes or claw toes
• Difficulty in gripping objects
• Frequent tripping or falling

If you experience any of these symptoms, it is important to consult a doctor for proper diagnosis and treatment.

Diagnosis of CMT1A

The diagnosis of CMT1A involves a physical examination, medical history, and genetic testing. The physical examination may include tests to check muscle strength, reflexes, and sensation in the hands and feet. The medical history may also help in identifying any family history of the disorder.

The genetic testing for CMT1A involves analyzing the PMP22 gene, which is responsible for producing a protein that helps in the normal functioning of peripheral nerves. The PMP22 gene CMT1A NGS genetic DNA test offered by DNA Labs India uses next-generation sequencing (NGS) technology to detect any mutations or changes in the PMP22 gene. This test is highly accurate and can help in diagnosing CMT1A even in the absence of any family history of the disorder.

Cost of PMP22 Gene CMT1A NGS Genetic DNA Test

The cost of the PMP22 gene CMT1A NGS genetic DNA test offered by DNA Labs India is INR 20,000. This test is affordable and provides accurate results, making it a reliable option for diagnosing CMT1A.

Conclusion

CMT1A is a genetic disorder that can cause muscle weakness and wasting. Early diagnosis is crucial for timely treatment and management of symptoms. The PMP22 gene CMT1A NGS genetic DNA test offered by DNA Labs India is an accurate and affordable option for diagnosing CMT1A. If you experience any symptoms of CMT1A, it is important to consult a doctor and get tested for the 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 PMP22 Gene CMT1A NGS Genetic DNA Test