Ordering provider must:

1. Have expertise in clinical genetics evaluation including family history, genetic-focused medical history and physical examination, and an understanding of whole exome strengths and limitations.

2. Provide sufficient relevant clinical description to assist in variant filtering and interpretation.

3. Provide adequate pre-test counselling, including informed consent for primary and secondary findings. 

Requests for Exome sequencing will be reviewed for approval by the Shared Health Genomics Out of Centre Genetics Testing Committee.

Approved requests: Ordering provider will be contacted by a laboratory Genetic Counsellor for additional information regarding sample and requisition requirements. The whole exome sequencing test may be sent for to a referral laboratory for testing, or tested in-house, at the molecular laboratory’s discretion.

Not Approved requests: Ordering provider will be notified that testing will not be pursued and reason(s) will be shared. Please provide a PHIA compliant fax number or e-mail for this communication.

Test Indications: All requests need approval by the Shared Health Genomics Out of Centre Genetics Testing Committee. Typically, the patient must have findings suggestive of an underlying genetic cause affecting more than one system, with no other condition(s) that could explain these findings.

Test Approval Requirements: Ordering is restricted to Medical genetics, and other approved specialists with genetic expertise and training relevant to whole exome sequencing.