Autism Spectrum Disorders or simply Autism (ASD) is a group of developmental disabilities characterized by the CDC (Centers for Disease Control and Prevention, USA) as the cause of significant social, communication and behavioral challenges. The defining characteristics of Autism and other related conditions in the autism spectrum includes, among others, lack of skills related to attention, memory, language, motor, behavior and social relationships.

Potential Benefits of Early Diagnosis

Although the exact cause is not entirely known the disabilities associated with autism are well documented. The early diagnosis and intervention are associated with better long-term results for management of ASD. The earlier the diagnosis the better the prognosis. As per Dr. Laurie Stephens from the Autism Spectrum Disorders Programs, the Help Group in California, “statistics show that between 25% and 50% of children receiving intense early intervention will move into general education by kindergarten and many others will need significantly less service provision in future years”.

CombiGene® Test and ASD

The American College of Medical Genetics (ACMG) released in 2010, a new Practice Guideline that recommends chromosomal microarray analysis (CMA) as the first-line genetic test for all children with autism spectrum disorders and other developmental/intellectual disabilities or birth defects. The Canadian CCMG has also released, in 2008, similar recommendations.

To accelerate the diagnosis of ASDS Procrea Fertility has developed the CombiGene® test, a technology based on genetic microarray analysis with an unprecedented high level of resolution that detects small genetic modifications not detected by previous technologies. The CombiGene® test allows fast, precise and cost-effective analysis. Analysis may be performed on blood or from DNA extracted from amniotic cells. The CombiGene® test provides clear and easy to interpret analytical reports in less than 3 weeks.

Fragile X Syndrome

Fragile X syndrome is the most common inherited cause of mental retardation in children with ASD, affecting 1 in 4,000 boys and 1 in 9,000 girls. Procrea Fertility offers the test for Fragile X syndrome in combination with the CombiGene® test to optimize the diagnostic process.

Genetic Counseling

Following the release of the CombiGene® test report a genetic counseling session is available to patients without any additional charge. The genetic counselor can help identify and interpret the risks of inherited diseases, explain the results obtained, provide support and address any emotional issues raised by the results of the test.

CombiGene® is a registered trademark of GROUPE OPMEDIC INC.