Short Description

NGS genetic DNA test detecets for variant and mutation detection in SYNGAP1 gene for Mental retardation, autosomal dominant type 5

PreTest Information

Clinical History of Patient who is going for SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with SYNGAP1 Gene Mental retardation, autosomal dominant type 5

Detail Description

SYNGAP1 Gene Mental Retardation: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Mental retardation, also known as intellectual disability, is a condition characterized by significant limitations in cognitive functioning and adaptive behavior. It affects about 1-3% of the general population and can be caused by various genetic and environmental factors. One of the genetic causes of mental retardation is the SYNGAP1 gene mutation, which leads to autosomal dominant type 5 intellectual disability. In this blog, we will discuss the symptoms, diagnosis, and cost of NGS genetic DNA testing for SYNGAP1 gene mutations in India.

What is the SYNGAP1 Gene?

The SYNGAP1 (Synaptic Ras GTPase Activating Protein 1) gene is located on chromosome 6 and encodes a protein that regulates the activity of the Ras signaling pathway in neurons. This pathway is crucial for synaptic plasticity, which is the ability of neurons to change their strength and connections in response to experience. SYNGAP1 mutations cause a reduction in the activity of the protein, leading to impaired synaptic plasticity, which is thought to underlie the cognitive deficits in affected individuals.

Symptoms of SYNGAP1 Gene Mutation

SYNGAP1 gene mutations are associated with a wide range of intellectual disabilities, ranging from mild to severe. The symptoms may include:

• Delayed milestones (e.g. walking, talking)
• Learning difficulties
• Impaired memory and attention
• Behavioral problems (e.g. hyperactivity, aggression)
• Epilepsy

The severity of the symptoms may vary even among individuals with the same mutation, making it difficult to predict the outcome based on genetic testing alone.

Diagnosis of SYNGAP1 Gene Mutation

The diagnosis of SYNGAP1 gene mutation involves a combination of clinical evaluation, genetic testing, and neuroimaging. The clinical evaluation may include a detailed medical history, physical examination, and cognitive and behavioral assessments. Neuroimaging may reveal structural abnormalities in the brain that are associated with the mutation.

Genetic testing can confirm the presence of a SYNGAP1 gene mutation. Next-generation sequencing (NGS) is a powerful tool that can sequence multiple genes simultaneously, making it a cost-effective and time-efficient method of genetic testing. NGS can detect various types of mutations, including single nucleotide variants, small insertions or deletions, and copy number variations, which can be missed by traditional Sanger sequencing.

NGS Genetic DNA Test Cost in India

The cost of NGS genetic DNA testing for SYNGAP1 gene mutations in India may vary depending on the laboratory and the type of test. The average cost is around INR 20,000, which includes the sequencing of the SYNGAP1 gene and the analysis of the data. Some laboratories may offer additional genetic counseling services to help interpret the results and provide guidance on the management and treatment of the condition.

Conclusion

SYNGAP1 gene mutation is a rare but significant cause of intellectual disability. The symptoms may range from mild to severe, and the diagnosis involves a combination of clinical evaluation, neuroimaging, and genetic testing. NGS genetic DNA testing is a cost-effective and time-efficient method of detecting SYNGAP1 gene mutations and can provide valuable information for the management and treatment of affected individuals.

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 SYNGAP1 Gene Mental retardation, autosomal dominant type 5 NGS Genetic DNA Test