Short Description

NGS genetic DNA test detecets for variant and mutation detection in SLC12A6 gene for Agenesis of the corpus callosum with peripheral neuropathy

PreTest Information

Clinical History of Patient who is going for SLC12A6 Gene Agenesis of the corpus callosum with peripheral neuropathy NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SLC12A6 Gene Agenesis of the corpus callosum with peripheral neuropathy

Detail Description

SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic DNA Test

SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy is a rare genetic disorder that affects the development of the brain and nervous system. It is caused by mutations in the SLC12A6 gene and is inherited in an autosomal recessive pattern. This disorder is characterized by the absence or underdevelopment of the corpus callosum, which is the structure that connects the two hemispheres of the brain, and peripheral neuropathy, which is damage to the nerves outside of the brain and spinal cord.

Symptoms of SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy

Some of the common symptoms of SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy include:

• Developmental delays and intellectual disabilities
• Seizures
• Abnormal eye movements
• Weakness in the muscles
• Numbness or tingling in the hands and feet

Diagnosis of SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy

Diagnosis of SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy can be done through a genetic test. Next-generation sequencing (NGS) genetic testing is a highly advanced and accurate method of DNA testing that can detect mutations in the SLC12A6 gene. This test is recommended for individuals who have a family history of this disorder or for those who exhibit symptoms of the disorder.

Cost of NGS Genetic DNA Test

The cost of NGS Genetic DNA Test for SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy in India is INR 20000. This test is available at DNA Labs India, a leading DNA testing laboratory in the country.

Conclusion

SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy is a rare genetic disorder that can have a significant impact on an individual's quality of life. Early diagnosis of this disorder is important to ensure timely and appropriate treatment. The NGS Genetic DNA Test offered by DNA Labs India is a highly accurate and reliable method of detecting mutations in the SLC12A6 gene. If you suspect that you or someone you know may have this disorder, it is recommended to consult a genetic counselor and get tested as soon as possible.

SLC12A6 Gene Agenesis of the Corpus Callosum with Peripheral Neuropathy NGS Genetic DNA Test cost INR:20000 symptoms diagnosis

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 SLC12A6 Gene Agenesis of the corpus callosum with peripheral neuropathy NGS Genetic DNA Test