Short Description

NGS genetic DNA test detecets for variant and mutation detection in HSPB8 gene for CMT2L

PreTest Information

Clinical History of Patient who is going for HSPB8 Gene CMT2L NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HSPB8 Gene CMT2L

Detail Description

HSPB8 Gene CMT2L NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Charcot-Marie-Tooth (CMT) disease is a group of inherited disorders that affect the peripheral nerves, which are responsible for sending signals from the brain and spinal cord to the muscles and sensory organs. CMT2L is a subtype of CMT that is caused by mutations in the HSPB8 gene.

The HSPB8 gene provides instructions for making a protein that is involved in the maintenance and repair of cells. Mutations in this gene can lead to the buildup of abnormal proteins in nerve cells, which can cause damage to the peripheral nerves and lead to the symptoms of CMT2L.

Symptoms of CMT2L

The symptoms of CMT2L can vary in severity and may include:

• Weakness in the legs and feet
• Numbness or tingling in the hands and feet
• Difficulty with balance and coordination
• Foot deformities, such as high arches or hammertoes
• Loss of muscle mass in the legs and feet
• Difficulty walking

Diagnosis of CMT2L

CMT2L can be diagnosed through a genetic test that looks for mutations in the HSPB8 gene. This test is called an NGS genetic DNA test and is available at DNA Labs India.

The test involves taking a sample of the patient's DNA, usually through a blood or saliva sample, and analyzing it for mutations in the HSPB8 gene. The test can be performed on both adults and children and is highly accurate in detecting mutations that can cause CMT2L.

Cost of the NGS Genetic DNA Test at DNA Labs India

The cost of the NGS genetic DNA test for CMT2L at DNA Labs India is INR 20,000. This cost includes the genetic testing, analysis, and interpretation of the results by a team of experienced geneticists.

DNA Labs India is a leading provider of genetic testing services in India, with a state-of-the-art facility and a team of highly trained and experienced geneticists. The laboratory uses the latest technology and equipment to ensure accurate and reliable results for all genetic tests.

Conclusion

If you or a loved one is experiencing symptoms of CMT2L, it is important to seek medical attention and consider genetic testing to determine the underlying cause of the condition. The NGS genetic DNA test for CMT2L is available at DNA Labs India and can provide accurate and reliable results to help with diagnosis and treatment planning.

Don't hesitate to contact DNA Labs India today to learn more about the NGS genetic DNA test for CMT2L and other genetic testing services available.

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 HSPB8 Gene CMT2L NGS Genetic DNA Test