Approximately 30-40% cases of Autism Spectrum Disorders have an underlying genetic cause. Genetic causes of autism can include:
- Specific genetic condition such as Fragile X syndrome
- A disease-causing change in a gene, e.g., MECP2
- Missing, additional, or misplaced piece of genetic information that can increase risk for autism such as 22q11.2 deletion syndrome
Advances in genetic testing technology has allowed us to identify new genetic causes for autism. As Autism Awareness Month is coming to an end, learn more about different types of genetic tests available for individuals diagnosed with autism.
Genetic testing is preferred by many medical experts for the following reasons:
- Accurate medical management
- Confirmation of diagnosis
- Find out risk of autism for future pregnancies
- Availability of prenatal testing or preimplantation genetic diagnosis
About the Creators
Neeraja Reddy is a board-certified genetic counselor (American Board of Genetic Counseling). She is a genetic counselor at Mapmygenome. Neeraja completed her Masters in Genetic Counseling from Brandeis University, Waltham, MA. She had earlier worked with University of Pennsylvania, Telegenetics Program.
Pooja Ramchandran is a pioneer in the field of genetic counseling in India and Director of Genetic Counseling at Mapmygenome. She has been practicing clinical genetic counseling in India since graduating from Johns Hopkins University in 2008. She is a much sought-after expert in a niche profession and, being the first genetic counselor in the country with a formal degree in genetic counseling, she is committed to establishing the genetic counseling profession in India.