Short Description

NGS genetic DNA test detecets for variant and mutation detection in EEF1A2 gene for Mental retardation, autosomal dominant type 38

PreTest Information

Clinical History of Patient who is going for EEF1A2 Gene Mental retardation, autosomal dominant type 38 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EEF1A2 Gene Mental retardation, autosomal dominant type 38

Detail Description

EEF1A2 Gene Mental Retardation, Autosomal Dominant Type 38 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Mental retardation is a developmental disorder characterized by significant limitations in intellectual functioning and adaptive behavior. Autosomal dominant inheritance is a pattern of inheritance in which an affected individual has one copy of a mutant gene and one normal gene. The EEF1A2 gene is associated with autosomal dominant mental retardation type 38 (MRD38).

What is the EEF1A2 Gene?

The EEF1A2 gene provides instructions for making a protein called eukaryotic elongation factor 1 alpha 2 (eEF1A2). This protein is involved in the process of translation, which is the conversion of genetic information from DNA into proteins. eEF1A2 is specifically involved in the elongation phase of translation, which is the step where amino acids are added to the growing protein chain.

Symptoms of MRD38

MRD38 is characterized by intellectual disability, delayed speech and language development, and behavioral problems. Other symptoms may include seizures, abnormal muscle tone, and movement disorders. Symptoms can vary widely, even among individuals with the same genetic mutation.

Diagnosis of MRD38

MRD38 can be diagnosed through genetic testing, which looks for mutations in the EEF1A2 gene. Next-generation sequencing (NGS) is a type of genetic testing that can sequence large portions of DNA at once, allowing for the detection of mutations in multiple genes simultaneously. NGS testing for MRD38 typically costs around INR 20,000 in India.

Conclusion

Mental retardation is a complex disorder with many potential genetic causes. Autosomal dominant MRD38 is caused by mutations in the EEF1A2 gene, which plays a role in the translation of genetic information into proteins. Genetic testing, such as NGS, can be used to diagnose MRD38 and other genetic causes of mental retardation. If you suspect that you or a loved one may have MRD38 or another genetic disorder, consult with a genetic counselor or medical professional to discuss testing options.

At DNA Labs India, we offer NGS genetic testing for MRD38 and other genetic disorders. Our testing is accurate, reliable, and affordable, with results typically available within 2-3 weeks. Contact us today to learn more about our testing services.