Autism Panel

Autism Spectrum Disorder (ASD) encompasses a range of conditions marked by challenges in social interaction, behavior, and communication. Symptoms often appear in the first year of life and are typically diagnosed in subsequent years. Individuals with ASD may struggle with eye contact, adapting to changes, and communication. They may also experience sensory sensitivities and associated health issues like seizures, sleep problems, anxiety, depression, or gastrointestinal disorders. Although there is no cure for ASD, early diagnosis and tailored treatments can support social and behavioral development.

This panel examines over 100 genes strongly associated with autism, including FOXP1, SYNGAP1, CHD8, and SCN2A, which are crucial for neuronal function. It also covers genes linked to syndromic conditions where ASD is a characteristic feature, such as tuberous sclerosis complex, Smith-Lemli-Opitz syndrome, Sotos syndrome, PTEN hamartoma syndrome, CHARGE syndrome, Cohen syndrome, Noonan syndrome, and Rett syndrome.

 

Who is this test for?

This panel is recommended for anyone with a personal or family history of ASD. People with unexplained communication problems, behavioral issues, or developmental delays may also benefit.

 

Genetic testing for autism spectrum disorder (ASD)

Genetic testing for autism spectrum disorder (ASD) can offer several potential benefits for patients. While ASD symptoms can vary widely and often lack obvious physical signs, making diagnosis challenging, genetic testing can play a crucial role in establishing a clearer diagnosis, particularly when genetic factors are involved. Here are some key advantages:

• Confirming Diagnosis: Genetic testing can help verify or establish a diagnosis of ASD, especially in cases where genetic components are suspected.
• Identifying Risk Factors: It can reveal the likelihood of additional related symptoms or conditions, providing a more comprehensive understanding of the patient’s health.
• Guiding Lifestyle Adjustments: The results may aid in recommending lifestyle changes that could benefit the patient’s overall well-being.
• Personalizing Treatment: With a confirmed diagnosis and understanding of genetic factors, healthcare providers can tailor treatments and management strategies to better fit the individual’s needs.

 

Clinical utility:

• Accurate Diagnosis: Identifies specific genetic variants associated with heart conditions for precise diagnosis

• Family Screening and Genetic Counseling: Facilitates screening of family members for risk assessment and enables informed family planning decisions.

• Research and Advancements: Contributes to ongoing research on the genetic basis of autism spectrum disorders, leading to new discoveries and advancements.

• Personalized Care: Allows tailored interventions and preventive measures based on individual genetic profiles.

• Improved Patient Outcomes: Enhances patient care through precise diagnoses and proactive risk management.

 

MapmyGenome Offerings

MapmyGenome’s Comprehensive Cardiology Panel offers a comprehensive genetic analysis tailored to your cardiovascular health needs. Our offerings include:

1. Complete Gene Panel Analysis: We analyze a wide array of genes associated with ASD, ensuring that no significant genetic factors are overlooked.

2. Detailed Report and Interpretation: The panel comes with a detailed report that includes an interpretation of the genetic variants found, their clinical significance, and personalized recommendations for management and care.

3. Genetic Counseling: We provide access to genetic counselors who can help you understand your results, discuss the implications for your health, and assist with any necessary lifestyle or treatment changes.

 

References

1. https://www.ncbi.nlm.nih.gov/gtr/tests/529181/
2. https://www.mayoclinic.org/diseases-conditions/autism-spectrum-disorder/symptoms-causes/syc-20352928
3. https://www.psychiatry.org/patients-families/autism/what-is-autism-spectrum-disorder