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Genetics Clinic

The Clinical Genetics Program offers services for genetic assessment, providing genetic and metabolic testing, family counseling, and information regarding management and long-term outcomes for patients diagnosed with Genetic conditions.

We believe that we can make a difference in the health outcomes of our patients as advances in understanding the genetic mechanisms allow us to provide options of early intervention to minimize disease severity, new treatments, or prevent recurrent genetic condition in the family.

Care We Provide

We offer genetic consultation and investigation through:

  • Genetics Clinic: for diagnosis and management of children and adults with genetic issues
  • Genetic Counselling Clinic: provides education and counselling to parents or families about genetic/ metabolic conditions in their family
  • Metabolic Clinic: for diagnosis, management, and follow-up of children and adults with inherited  metabolic disorders
  • Newborn Screening Centre: one of 5 referral centers in the province for newborn screening, responsible for retrieving all positive newborn screens in our region.

Our team also meets with the family to go over screenings, and arrange follow-up testing.

What to Bring

  • The Health Card of the child and parents. The Ministry of Health and Long Term Care requires us to validate your health card at every clinic visit.
  • Any genetic results from your doctor/pediatrician.
  • Any relevant test results or documentation.

When you arrive, please check-in at the reception desk. The Business Clerk will register you in the electronic system so that your team will know that you have arrived.

Note: If you or your child has a respiratory illness with coughing/fever or vomiting/diarrhea please do not come to the clinic but call for further assessment/instructions as soon as possible prior to the appointment. If you or your child has a communicable disease such as Chicken Pox or has been in contact with someone with Chicken Pox, please call the clinic before you come to the hospital.

Team Members

Genetic Counselor

A health care professional who provides information and resources to patients and families about genetic conditions, tests related to those conditions, and facilitates genetic testing. Genetic counselors provide care to pregnant women, children, and adults.

Genetic Counselor (Newborn Screening)

A genetic counselor who works with patients and families to help understand newborn screening results, and arranging follow-up testing and management.


A medical doctor who assesses, evaluates, diagnoses, and manages patients with genetically inherited conditions.

Metabolic Team

  • Genetic counselor, metabolic dietitian, social worker, and metabolic physician
  • Involved in the follow-up of positive newborn screens for inherited metabolic disorders
  • Diagnose, treat, and follow children and adults with inherited metabolic disorders

Metabolic Physician

Geneticist specializing in metabolic disorders

Referral Process

A physician referral is required for the first visit with a geneticist or genetic counselor.

Patients meeting any of the following criteria should be considered for referral to a genetic specialist:

Family History

  • One or more members with intellectual disability, developmental delay, an inherited disorder, or a birth defect
  • One or more members with early deaths due to known or unknown medical conditions
  • One or more members with adult-onset health conditions such as cardiomyopathy or early onset dementia
  • Couples who would like testing or more information about genetic conditions that occur with higher frequency in their ethnic group
  • Couples with a family history of Genetic disorder with a known familial mutation
  • Couples with a family history of multiple members affected with the similar health condition

Congenital Anomalies, Delayed Growth and Development

  • Your patient has developmental issues or delays that may be due to an inherited disorder or birth defect
  • Your patient has short stature that cannot be explained by endocrinology issues
  • Your patient was born with congenital anomalies or/and major organ defects (heart, kidney, lungs, etc)

Reproductive issues

  • Women who have experienced multiple pregnancy losses or babies who died in infancy
  • Couples who are first cousins or other close blood relatives

Modified from:  Genetic Alliance; The New York-Mid-Atlantic Consortium for Genetic and Newborn Screening Services. Understanding Genetics: A New York, Mid-Atlantic Guide for Patients and Health Professionals. Washington (DC): Genetic Alliance; 2009 Jul 8. CHAPTER 6, INDICATIONS FOR A GENETIC REFERRAL. Available from:

Please note that our clinic may not be the most appropriate resource for all referrals. Alternative services are available for your patients:

  • For referrals related to prenatal diagnosis(including positive prenatal screening, abnormal ultrasound findings, or a previous pregnancy with a birth defect, chromosome abnormality, or genetic condition), please direct your referral to the Prenatal Diagnosis Clinic (Tel #: 905-521-2100 X73135, Fax #: 905-521-4955). Their referral form is available at:
  • For referrals related to hereditary cancer syndromes, please direct your referral to the Cancer Genetics Clinic at the Juravinski Cancer Centre (Tel #: 905-521-2100 X64636, Fax # 905-575-6316).
  • For referrals related to neuromuscular and mitochondrial disorders, please direct your referral to the Neuromuscular Clinic (Tel #: 905-521-2100 X77933 Fax #:905-521-2638).
  • For referrals related to recurrent miscarriage/infertility, please order a karyotype for both members of the couple and consider a referral to a fertility clinic.
  • For referrals related to adults with isolated hypermobility/ query Ehlers Danlos Syndrome Hypermobility Type, please consider referring your patient to the Ehlers Danlos Syndrome Program at Toronto General Hospital (Tel #: 416-340-4800 ext 6536, Fax # 416-340-3792).

If your patient has additional features of Ehlers Danlos Syndrome, please indicate this in your referral letter and provide supporting documentation. Pertinent features include:

  • Aneurysm, arteriovenous fistulae, or dissection
  • Intestinal rupture
  • Uterine rupture during pregnancy
  • Thin, translucent skin
  • Friable, hyperextensible skin, thin scars
  • History of neonatal hypotonia
  • Progressive scoliosis, present at birth or within the first year of life
  • Scleral fragility and rupture of the globe
  • Family history of vascular type EDS
  • Family history of sudden death
  • Known familial mutation

In order to optimize our service for some indications, we will ask for additional information and/or an alternative service may be suggested:

  • For referrals related to a chromosomal microarray abnormality, we ask that you arrange the follow-up blood work on both of the patient’s biological parents (The follow-up recommendations are included in your patient’s cytogenetic report with details about the requested samples). These parental results are important for the interpretation of your patient’s results.
  • For referrals related to a family history of a genetic condition, please include clinical details about the affected family member, indicate whether family members have been previously assessed by our clinic. Please provide a copy of their genetic testing result for the family member if it is available.
  • For referrals related to Marfan syndrome, we ask you to arrange 1) an echocardiogram with measurement of the aortic root/ascending aorta diameter, and 2) an ophthalmology or optometry assessment to look for lens subluxation/dislocation.
  • For referrals related to a Skeletal Dysplasia, we ask you to arrange a skeletal survey and enclose a copy of the report.
  • For referrals related to Alzheimer’s disease/ family history of Alzheimer’s disease, please include a copy of a brain MRI (if available), as well as details about the age of onset of dementia for your patient and their affected relatives.
  • For referrals related to diagnostic work-up for  Hemochromatosis/iron overload please refer to a hematologist. We would be happy to see individuals if there is a known family history and/or to discuss genetic testing results.
  • For referrals related to Thrombophilia, please refer to a hematologist.

For referrals related to diagnostic work-up for Hemophilia, please refer to a hematologist. We would be happy to see individuals if there is a known family history but please include details about the affected family member and provide a copy of their genetic testing result if it is available.

Urgent Referrals: The clinics are not for emergencies. If you/your child needs to be seen on an emergent basis, please contact your family doctor or go to your local emergency department.

Certain referrals are given priority appointments (pregnancy at risk, sudden deterioration in clinical status or developmental regression). If one of these applies to you/ your child, be sure your referring/ family doctor indicates this is on the referral.