Genetics

Provides a national genetics clinic directory and educational information to help providers and families locate appropriate publicly funded genetic counselling services.

National non-profit network offering rare-disease information, patient-organization connections, education and advocacy resources for affected individuals, families and providers.

Offers concise referral red flags, risk summaries and surveillance tools for hereditary breast and ovarian cancer, Lynch syndrome, renal cancer and general hereditary cancer assessment.

Provides practical tools for collecting and interpreting family health history and recognizing red flags that may warrant genetic assessment.

Supports preconception and prenatal carrier-screening decisions, result interpretation and identification of patients or couples who should be referred to genetics.

Specific metabolites, Enzymes - Likely need genetics referral if considering ordering these

Sepcific Deficiencies - Likely need genetics referral if considering ordering these

Targeted assays for Cystic Fibrosis, Factor V Leiden, Hemachromatosis and neuromuscular diseases

Aneuploidy, Turner Syndrome, Amenorrhea, Ambiguous Genitalia, Short Stature, Klinefelter's Syndrome - consider genetics referral instead

For developmental delay or intellectual disabilities

Specific cancer genetics - need genetics referral before ordering these

Non-profit Canadian genomics knowledge centre offering evidence-based point-of-care tools and education to help primary-care providers identify, counsel, test and refer patients appropriately.

Provides risk assessment, genetic counselling and testing for people with or without cancer who may have an inherited cancer predisposition; referral criteria and required family records are provided on the clinic page.

Assesses children and adults with congenital anomalies, developmental delay, chromosomal findings, suspected inherited disease or a relevant family history; clinician referral is required and the page lists current referral requirements.

Provides regional genetic counselling, confirmatory assessment and coordinated specialty follow-up after positive Ontario newborn screens for metabolic conditions, cystic fibrosis, spinal muscular atrophy and severe combined immune deficiency.

Referral form for prenatal genetics that identifies the prenatal records, screening results, ultrasound reports and laboratory information that should accompany a clinician referral.

Provides publicly funded genetic counselling and testing for prenatal, cancer, cardiology, metabolic and general pediatric or adult indications across Southwestern Ontario (519-685-8140).

Current referral form for general pediatric, adult and metabolic genetics, with required supporting records and fax instructions for the Medical Genetics Program.

Multidisciplinary clinic for children and adults with suspected or confirmed inborn errors of metabolism, lysosomal disorders and related neurometabolic conditions; access follows the general genetics referral process.

Lists molecular genetic tests available through LHSC Pathology and Laboratory Medicine, including hereditary cancer panels, with test indications, specimen requirements and requisition information.

Provides genetic counselling and, when appropriate, prenatal diagnostic testing such as CVS or amniocentesis for high-risk screening results, fetal anomalies or relevant personal and family histories.

Coordinates universal provincial screening, follow-up, education and quality oversight for serious inherited and congenital conditions identified shortly after birth.

Summarizes the metabolic, endocrine, hematologic, immune, neuromuscular, cardiac, liver and hearing conditions included in Ontario’s newborn screening system.

Provides responsibilities, manuals, requisitions and follow-up resources for hospitals, midwifery practices, birth centres, clinics and regional treatment centres involved in newborn screening.

Offers training modules, collection tip sheets, parent education materials and guidance for dried-blood-spot collection, special circumstances and communicating results.

Provides Ontario recommendations and ordering resources for genetic testing in inherited cardiomyopathy and arrhythmia, available through the provincial genetics guidance collection.

Provides standardized eligibility and ordering guidance for publicly funded genetic testing in suspected familial hypercholesterolemia.

Searchable directory of diagnostic genetic tests available in Ontario for rare and inherited diseases, including eligibility, specimen and laboratory requirements.

Connects Ontario clinicians with a genetic counsellor for advice about test availability, eligibility, ordering, results and whether a genetics referral is appropriate (1-844-564-4363).

Central collection of current Ontario eligibility criteria, ordering guidance and patient information for hereditary cancer, cardiogenetics, neurogenetics, neurodevelopmental disorders, dyslipidemias and other genetic indications.

Develops provincial guidance and standards for publicly funded genetic diagnostic testing and genetic counselling services in Ontario.

Provides provincial eligibility guidance for germline testing based on a patient’s personal and family history of cancer and supports consistent referral or testing decisions.

Provides evidence-based recommendations on eligibility and appropriate genetic testing for people with neurodevelopmental disorders.

Step-by-step provider guidance on eligibility, consent, requisitions, sample submission and management of genome-wide sequencing results for eligible neurodevelopmental presentations.

Provincial program offering evidence-based prenatal screening information and a genetic-counsellor information line for providers and patients at 1-833-351-6490; testing must be ordered by a health-care provider.