McMaster University

McMaster University

Clinical Genetics Program

Contact Information

Phone: (905) 521-5085 Fax: (905) 521-2651

3F and 2Q Clinics, McMaster Children's Hospital/McMaster University Medical Centre

What services do we provide?

The Clinical Genetics Program offers services for genetic assessment, providing genetic and metabolic testing, family counselling, 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.

Please use our most recent referral form: Genetics referral form 4.07.2019

The Clinical Genetics Program provides clinical genetics services to Hamilton and surrounding areas. Our services include:

  • Genetic consultation for prenatally detected anomalies
  • Genetic consultation for inpatients at MUMC site
  • Metabolic consultation for inpatients at MUMC

Genetic ambulatory clinics for

  • Pediatric patients
  • Adult patients or family members with (suspected) genetic conditions
  • Hereditary cancers
  • Overgrowth syndromes
  • Cardiac genetics - (suspected) hereditary cardiomyopathies and dysrrhythmias
  • Genetic counseling for known genetic conditions and preconception counseling
  • Metabolic diseases

We are also the regional centre for the Province of Ontario Newborn Screening Program.

Referral Information

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

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

1. 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 conditional

2. 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 anomolies or/and major organ defects (heart, kidney, lungs, etc)

3. 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.

Clinic hours

The clinic hours are Monday to Friday (closed on holidays) 9:00 a.m. to 4:00 p.m.

Urgent referrals

The clinics are not for emergencies. If you or your child needs to be seen on an urgent basis, please contact your primary doctor or go to your local emergency department.

Changing your appointment

Please contact us as soon as possible if you need to change your child's appointment or cancel the appointment.

What should you bring to the clinic?

  • Health Card for the patient (The Ministry of Health requires us to validate your health card)
  • Your doctor's notes, copies of any reports of previous investigations such as x-rays, blood work, ultrasound, MRI
  • Any notes or questions that you may have

Interdisciplinary team


  • Dr. M. Kozenko
  • Dr. C. Li
  • Dr. J. MacKenzie
  • Dr. M. Nowaczyk
  • Dr. M. Potter

Genetic counselors

  • Lauren Brick
  • Gina Cowing
  • Christina Paradiso
  • Chelsea Roadhouse
  • Lee-Anne Schultz
  • Madeline Vandersluis


  • Amy Pender
  • Susan Merko

Social Worker

  • Josie Cirella


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.

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