Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARID1B gene for Mental retardation, autosomal dominant type 12

PreTest Information

Clinical History of Patient who is going for ARID1B Gene Mental retardation, autosomal dominant type 12 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with ARID1B Gene Mental retardation, autosomal dominant type 12

Detail Description

ARID1B Gene Mental Retardation, Autosomal Dominant Type 12 NGS Genetic DNA Test Cost INR: 20,000

Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. It affects about 1-3% of the population worldwide. Mental retardation can be caused by genetic or environmental factors, or a combination of both.

ARID1B gene mutations have been associated with autosomal dominant mental retardation type 12 (MRD12), which is characterized by moderate to severe intellectual disability, developmental delay, speech and language problems, and behavioral issues. Other features may include seizures, hypotonia, and facial dysmorphism.

Symptoms of ARID1B Gene Mental Retardation

The symptoms of MRD12 can vary widely among affected individuals, even within the same family. Some common symptoms may include:

• Developmental delay
• Intellectual disability
• Speech and language problems
• Behavioral issues
• Seizures
• Hypotonia
• Facial dysmorphism

Diagnosis of ARID1B Gene Mental Retardation

Diagnosis of MRD12 can be made through genetic testing, which can identify mutations in the ARID1B gene. Next-generation sequencing (NGS) genetic DNA testing is a powerful tool that can detect mutations in multiple genes simultaneously, making it an efficient and cost-effective option for genetic diagnosis.

The cost of NGS genetic DNA testing for ARID1B gene mental retardation in India is INR 20,000. This test can be performed on blood or saliva samples and takes about 2-3 weeks for results.

Conclusion

ARID1B gene mutations have been associated with autosomal dominant mental retardation type 12, which is characterized by moderate to severe intellectual disability, developmental delay, speech and language problems, and behavioral issues. Genetic testing, particularly NGS genetic DNA testing, can provide an efficient and cost-effective means of diagnosis. The cost of NGS genetic DNA testing for ARID1B gene mental retardation in India is INR 20,000. Early diagnosis and intervention can improve the quality of life for affected individuals and their families.

If you suspect that you or a loved one may have MRD12, speak with your healthcare provider about genetic testing.