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Genetics & Metabolics Program

The Genetics and Metabolics Program offers genetic and metabolic diagnostic work-up and assessment, genetic counselling, and long term follow-up in some cases. We also act as a regional follow-up centre for newborns with positive newborn screening results. As a regional program, we provide care for both pediatric and adult populations. Within the Genetics service, we provide diagnostic assessment for genetic conditions, coordinate and interpret genetic testing, provide family counselling, and give information regarding management and long-term outcomes for patients diagnosed with genetic conditions. In the Metabolics service, patients are seen for diagnostic assessment, genetic counselling, and for ongoing management of their metabolic 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 early intervention to minimize disease severity, new treatments, or prevent recurrent genetic conditions in the family.

For further information about clinic services visit: https://fhs.mcmaster.ca/pediatrics/genetics_clinical_info.html

Care We Provide

Genetics Service

  • Physician assessment and diagnosis of genetic conditions (birth defects, other physical differences, developmental delay, short stature, possible syndromes)
  • Diagnostic testing (blood work and/or urine testing)
  • Genetic counselling (including family history indications, new diagnoses of genetic conditions, consanguinity)


  • Physician assessment and diagnosis of metabolic conditions
  • Diagnostic testing (blood work and/or urine testing)
  • Long term follow-up and management of metabolic conditions (diet therapy, enzyme therapy)
  • Genetic counselling for metabolic conditions

Newborn Screening

  • Follow-up genetic counselling and information provision about screening results
  • Diagnostic follow-up testing (blood work and/or urine testing)
  • Long term follow-up and treatment, as required

What to Expect

How to prepare:

  • Please bring any relevant information about your family history to help us draw your family tree (medical conditions/illnesses, miscarriages, cancer, birth defects, sudden deaths) including information about your immediate and extended family (cousins, grandparents, aunts and uncles)

What to bring:

  • Your health card, your child’s health card
  • Any genetic testing results for yourself or your family members
  • If possible, both parents should attend their child’s first visit
  • If you are being seen for genetic counselling related to family planning, please bring your partner if possible

During your visit:

  • You will be seen by a physician, and in many cases by a genetic counsellor or a dietitian

After your visit:

  • Genetic testing results may take up to 6-8 months. You will be contacted for a follow-up appointment when your results are available

Team Members

Our team consists of:

  • clinical geneticists
  • a biochemical geneticist
  • genetic counsellors
  • registered dietitians
  • a registered nurse
  • a social worker
  • administrative staff
  • residents or other medical learners


Will I/my child have blood work completed?

Some patients will have blood work or other testing completed following their visit. The testing that is ordered depends on the assessment during your visit.

Do I need to bring my child?

Yes, if the referral is for your child, please bring them for all visits.

How long will my appointment be?

Most appointments are one hour. If blood work or other testing is ordered, you may be at the hospital for 2-3 hours.

Do I need to be fasting for my blood work?

Usually, fasting is not required for blood work.

Why am I being referred?

Please contact your family doctor if you are unsure about the reason for your visit.