Short Description

NGS genetic DNA test detecets for variant and mutation detection in GJC2 gene for Leukodystrophy hypomyelinating

PreTest Information

Clinical History of Patient who is going for GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with GJC2 Gene Leukodystrophy hypomyelinating

Detail Description

Understanding GJC2 Gene Leukodystrophy Hypomyelinating NGS Genetic DNA Test Cost INR 20000 Symptoms Diagnosis

Leukodystrophy is a group of genetic disorders that affect the growth and development of the myelin sheath, which is responsible for protecting nerve fibers in the brain and spinal cord. Hypomyelinating leukodystrophies are a subtype of leukodystrophies that cause a delay in the myelination process.

The GJC2 gene is associated with the hypomyelinating leukodystrophy subtype. Mutations in this gene can cause symptoms such as delayed motor development, spasticity, and intellectual disability. Testing for the GJC2 gene mutation can help diagnose hypomyelinating leukodystrophy.

Symptoms of GJC2 Gene Leukodystrophy Hypomyelinating

The symptoms of GJC2 gene leukodystrophy hypomyelinating can vary depending on the severity of the condition. Some common symptoms include:

• Delayed motor development
• Spasticity
• Intellectual disability
• Seizures
• Loss of vision or hearing
• Difficulty swallowing

Diagnosis of GJC2 Gene Leukodystrophy Hypomyelinating

Diagnosis of GJC2 gene leukodystrophy hypomyelinating can be done through genetic testing. NGS (Next Generation Sequencing) genetic testing can help identify mutations in the GJC2 gene. This test is a non-invasive procedure that involves taking a sample of blood or saliva.

NGS genetic testing is a highly accurate and reliable method of diagnosing genetic disorders. It can detect mutations in multiple genes simultaneously, making it a cost-effective and time-efficient option for diagnosis.

GJC2 Gene Leukodystrophy Hypomyelinating NGS Genetic DNA Test Cost INR 20000

The cost of the GJC2 gene leukodystrophy hypomyelinating NGS genetic DNA test in India is approximately INR 20000. This cost may vary depending on the laboratory or clinic where the test is conducted.

It is important to note that genetic testing may not be covered by insurance, and patients may need to bear the cost themselves.

Conclusion

GJC2 gene leukodystrophy hypomyelinating is a rare genetic disorder that can cause a delay in the myelination process. Symptoms include delayed motor development, spasticity, and intellectual disability. NGS genetic testing can help diagnose this condition, and the cost of the test in India is approximately INR 20000.

If you or a loved one is experiencing symptoms of GJC2 gene leukodystrophy hypomyelinating, it is important to consult a healthcare professional for proper diagnosis and treatment.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic testing for GJC2 gene leukodystrophy hypomyelinating. Our team of experts is committed to providing accurate and reliable results to help patients make informed decisions about their health.

Contact us today to learn more about our genetic testing services.

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 GJC2 Gene Leukodystrophy hypomyelinating NGS Genetic DNA Test