Short Description

NGS genetic DNA test detecets for variant and mutation detection in PACS1 gene for Mental retardation, autosomal dominant type 17

PreTest Information

Clinical History of Patient who is going for PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PACS1 Gene Mental retardation, autosomal dominant type 17

Detail Description

PACS1 Gene Mental Retardation: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost

Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in intellectual functioning and adaptive behavior. It affects around 1-3% of the population worldwide. Autosomal dominant mental retardation (ADMR) is a type of intellectual disability that is inherited in an autosomal dominant pattern, meaning that only one copy of the affected gene is needed to develop the condition. One of the genes associated with ADMR is PACS1.

What is PACS1 Gene?

The PACS1 gene is located on chromosome 11 and codes for a protein involved in the regulation of intracellular trafficking and signal transduction. Mutations in this gene have been linked to intellectual disability, developmental delay, and other neurological problems. PACS1 gene mutations are associated with autosomal dominant type 17 mental retardation (MRD17).

Symptoms of PACS1 Gene Mental Retardation

The symptoms of PACS1 gene mental retardation can vary widely between individuals. Some common features include:

• Moderate to severe intellectual disability
• Delayed speech and language development
• Developmental delay
• Behavioral problems, including hyperactivity and aggression
• Distinct facial features, such as a prominent forehead and widely spaced eyes
• Seizures (in some cases)

Diagnosis of PACS1 Gene Mental Retardation

The diagnosis of PACS1 gene mental retardation can be confirmed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes at once and detect mutations in the PACS1 gene. NGS genetic DNA testing is a non-invasive procedure that involves collecting a saliva or blood sample from the patient. The sample is then sent to a genetic testing laboratory, where it is analyzed for mutations in the PACS1 gene.

NGS Genetic DNA Test Cost

The cost of NGS genetic DNA testing for PACS1 gene mental retardation in India is around INR 20,000. This cost may vary depending on the laboratory and the specific testing method used.

Conclusion

PACS1 gene mental retardation is a rare genetic condition that can cause significant intellectual disability and other neurological problems. Genetic testing using NGS technology can help diagnose this condition and provide valuable information for families and healthcare providers. The cost of NGS genetic DNA testing for PACS1 gene mental retardation in India is around INR 20,000. If you suspect that you or a family member may have this condition, it is important to speak with a healthcare provider and consider genetic testing.

At DNA Labs India, we provide NGS genetic DNA testing services for a wide range of genetic conditions, including PACS1 gene mental retardation. Our state-of-the-art laboratory and experienced team of genetic counselors and scientists ensure accurate and reliable testing results. Contact us today to learn more about our genetic testing services and how we can help you.

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 PACS1 Gene Mental retardation, autosomal dominant type 17 NGS Genetic DNA Test