Short Description

NGS genetic DNA test detecets for variant and mutation detection in HERC2 gene for Mental retardation, autosomal recessive type 38

PreTest Information

Clinical History of Patient who is going for HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HERC2 Gene Mental retardation, autosomal recessive type 38

Detail Description

Understanding HERC2 Gene and Mental Retardation: NGS Genetic DNA Test Cost in India

Mental retardation, also known as intellectual disability, is a developmental disorder characterized by significant limitations in intellectual functioning and adaptive behaviors. The condition affects about 1-3% of the global population, and in many cases, the underlying cause is genetic.

One gene that has been associated with mental retardation is HERC2. This gene is located on chromosome 15 and provides instructions for making a protein that plays a role in the regulation of other proteins within cells. Mutations or changes in the HERC2 gene have been linked to several types of mental retardation, including autosomal recessive type 38.

Autosomal Recessive Type 38 and HERC2 Gene

Autosomal recessive type 38 is a rare form of intellectual disability that is caused by mutations in the HERC2 gene. The condition is inherited in an autosomal recessive pattern, which means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

People with autosomal recessive type 38 typically have moderate to severe intellectual disability and may also experience delayed speech and language development, behavioral problems, and seizures. Other symptoms may include microcephaly (an abnormally small head), hypotonia (low muscle tone), and facial abnormalities.

Diagnosing HERC2 Gene Mutations

If an individual exhibits symptoms of mental retardation, genetic testing can be used to identify mutations in the HERC2 gene. Next-generation sequencing (NGS) is a popular genetic testing technique that can analyze large amounts of DNA in a short amount of time. NGS can be used to sequence the entire HERC2 gene and identify any mutations that may be present.

NGS genetic testing for HERC2 mutations typically costs around INR 20000 in India. The test involves taking a blood or saliva sample from the individual being tested and sending it to a laboratory for analysis. Results are typically available within a few weeks.

Conclusion

The HERC2 gene has been associated with several types of mental retardation, including autosomal recessive type 38. NGS genetic testing can be used to identify mutations in the HERC2 gene and aid in the diagnosis of mental retardation. The cost of this test in India is around INR 20000, and results are typically available within a few weeks. Early diagnosis can help individuals with mental retardation receive appropriate care and support.

At DNA Labs India, we offer NGS genetic testing for HERC2 mutations and other genetic disorders. Our team of experts is committed to providing accurate and reliable genetic testing services at an affordable cost. Contact us today to learn more about our 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 HERC2 Gene Mental retardation, autosomal recessive type 38 NGS Genetic DNA Test