Best Practices in Care

Ordering First-Tier Genetic Testing

Neurodevelopmental disorders are a group of conditions which include autism, global developmental delay and intellectual disability, as well as attention deficit hyperactivity disorder, specific learning disorders, and others.

An neurodevelopmental disorder may have a genetic cause, such as a genetic syndrome, or complex inheritance with genetic susceptibility factors. An identifiable genetic etiology is more likely in those with co-occurring health conditions or those who have a family history of NDDs.

Genetic testing is indicated for all:

  • autistic individuals.

  • individuals with unexplained GDD and/or ID.

  • individuals with an NDD and co-occurring features suggestive of a possible genetic condition.

The Canadian College of Medical Geneticists 2023 Position Statement recommends first-tier genetic testing be organized by non-genetics clinicians before or concurrent with a referral to genetics. This includes chromosomal microarray and, in some cases, Fragile X syndrome testing.

Point of Care Tools

First-tier genetic testing can be ordered by any physician in:

Alberta

British Columbia

Ontario

Québec

Maritimes  (Newbrunswick, Nova Scotia, Prince Edward Island)

First-tier genetic testing can only be ordered by a Geneticist or Specialist
(e.g. developmental paediatrician) in:

Saskatchewan

Manitoba

Newfoundland and Labrador (geneticist only)

GECKO (Genetics Education Canada: Knowledge Organization)

Health Watch Table – Fragile X Syndrome

Developed by: Developmental Disabilities Primary Care Initiative (2011), Surrey Place, Toronto

Health Watch Tables provide health information for specific syndromes with an established etiology and with identified health concerns. These syndrome specific tables were developed to complement the 2011 version of the Canadian consensus guidelines on the primary care of adults with developmental disabilities 

This is the heart of Fragile X care: seeing beyond challenges to embrace growth, joy, and possibility. Together, we can pave the way for brighter futures and inspiring stories like the one you see here.

Best practices in care aren’t just about strategies, they’re about unlocking potential and celebrating strengths. When we approach care with compassion, innovation, and a commitment to understanding the individual, we create an environment where thriving becomes the norm, not the exception.