Short Description

NGS genetic DNA test detecets for variant and mutation detection in EFCAB13 gene for Autism, EFCAB13 related

PreTest Information

Clinical History of Patient who is going for EFCAB13 Gene Autism, EFCAB13 related NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with EFCAB13 Gene Autism, EFCAB13 related

Detail Description

EFCAB13 Gene Autism: Symptoms, Diagnosis, and Genetic Testing

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition that affects communication, behavior, and social interaction. It is estimated that 1 in 54 children in the United States has ASD, and the prevalence is increasing worldwide. The exact causes of ASD are not fully understood, but genetics is believed to play a significant role.

Recent studies have identified a gene called EFCAB13 that is associated with an increased risk of ASD. In this blog, we will discuss the symptoms, diagnosis, and genetic testing related to the EFCAB13 gene and autism.

Symptoms of Autism

The symptoms of autism can vary widely in severity and presentation, but they typically fall into two categories: social communication and behavior. Some of the most common symptoms include:

• Difficulty with social interaction and communication
• Repetitive behaviors or routines
• Sensory sensitivities
• Difficulty with executive function (organizing, planning, etc.)
• Delayed language development
• Lack of imaginative play

Diagnosis of Autism

Diagnosing autism can be challenging because there is no single medical test that can definitively diagnose the condition. Instead, doctors rely on a combination of medical history, behavioral observations, and standardized tests to make a diagnosis. Some of the most commonly used assessments include:

• Autism Diagnostic Observation Schedule (ADOS)
• Autism Diagnostic Interview-Revised (ADI-R)
• Childhood Autism Rating Scale (CARS)
• Social Communication Questionnaire (SCQ)
• M-CHAT (Modified Checklist for Autism in Toddlers)

EFCAB13 Gene and Autism

The EFCAB13 gene is located on chromosome 3 and has been identified as a potential risk factor for autism. This gene is involved in calcium signaling in the brain, which is critical for proper brain function. Mutations in the EFCAB13 gene have been found in individuals with autism, and researchers believe that these mutations may disrupt the normal development of the brain.

Genetic Testing for EFCAB13 Gene Mutations

Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations associated with autism, including mutations in the EFCAB13 gene. NGS allows for the simultaneous analysis of multiple genes, making it a cost-effective and efficient way to screen for mutations that may be contributing to autism.

The cost of NGS genetic testing for the EFCAB13 gene can vary depending on the laboratory and the specific test ordered. At DNA Labs India, we offer NGS genetic testing for autism that includes analysis of the EFCAB13 gene. Our testing costs INR 20,000 and includes a detailed report of the results.

Conclusion

Autism is a complex condition that is believed to have a genetic component. Recent studies have identified the EFCAB13 gene as a potential risk factor for autism, and genetic testing can help identify mutations in this gene that may be contributing to the condition. If you are concerned about autism in yourself or a loved one, consider speaking with a healthcare provider or genetic counselor about genetic testing options.

At DNA Labs India, we are committed to providing accurate and affordable genetic testing services to help individuals and families better understand their health. Contact us today to learn more about our NGS genetic testing for autism and other genetic conditions.

Disclaimer: This blog is for informational purposes only and should not be used as a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare providers with any questions you may have regarding a medical condition.

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by challenges in social communication and interaction, as well as restricted and repetitive behaviors. While the exact cause of autism is not fully understood, research suggests that it likely involves a combination of genetic and environmental factors. Some cases of autism have been associated with specific genetic mutations or variations, including those in the EFCAB13 gene.