Genetics Clinic

This page provides information about prenatal and medical genetics services. 

Please remember to register in Patient Registration located in C-Wing, Level 2 at Mackenzie Richmond Hill Hospital before coming to the clinic. 

The Genetics Clinic offers prenatal and medical genetics services in the areas of: assessment, diagnosis, and counseling to individuals of all ages, genders, and their families.

Some genetic conditions are identified at birth. Others may appear later in childhood or even as an adult.

What is Genetic Counseling?

Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. For instance:

  • How inherited diseases and conditions might affect them or their families
  • How family and medical histories may impact the chance of disease occurrence or recurrence
  • Which genetic tests may or may not be right for them, and what those tests may or may not tell
  • How to make the most informed choices about healthcare conditions

Prenatal Screening

Includes Nuchal Translucency ultrasound and prenatal screening blood work done between 11-13.3 weeks.

Physicians offices, ensure to send the following:

Referral Form

Routine Pregnancy Referral form or High Risk Pregnancy referral form (if required).

MOH Lab Requisition

For the patients having prenatal screening blood work, please send along the MOH lab requisition.

Ensure to write in: EFTS under the Other test section.

Dating Ultrasound

Dating ultrasounds are always helpful and more accurate in dating the pregnancy.

How long will results take?

Usually 7 - 10 business days.

Please Note: The Integrated Prenatal Screening (IPS) test, has been changed to the new Enhanced First Trimester Screening (EFTS) test.

Please visit North York General Hospital for the details on the change, effective April 1, 2016.

How to Refer Patients

Physicians can send a completed "Routine Pregnancy Referral" form to Fax: 905-883-2052.

Advanced Maternal Age

Advanced maternal age, refers to women who are 40 years of age at the time of delivery. These patients will have a Genetic counseling appointment to discuss the possibility of screening and diagnostic testing options available.

Patients 40+ years of age

These patients can be seen once their NT Ultrasound ,EFTS blood work, and NIPT / Harmony test results are available.

Once all the results are back please fax them with the referral to the clinic.

Referrals should include:

  • Dating Ultrasound
  • NT Ultrasound
  • CBC, Hemoglobin
  • Blood Type
  • NIPT / Harmony Result
  • Antenatal Records

How to Refer Patients

Physicians can send a completed Genetics Referral form to Fax: 905-883-2052.

Reasons for Referrals

  • Prenatal Genetics
  • Pediatric Genetics
  • Adult Genetics
  • Cancer Genetics

These patients will have a Genetic counseling appointment to discuss the possibility of screening and diagnostic testing options available.

Ensure to send any supporting documents for your referral. Any delay in receiving supporting documents, could result in a delay in the process for your patient.

Documents to consider when referring patients:


Women/couples who are pregnant or planning to become pregnant may see a prenatal genetic counselor for reasons including:

  • Personal or family history of a known or suspected condition
  • Abnormal ultrasound findings
  • Discussion of testing options and types of tests available during pregnancy
  • Advanced maternal or paternal age
  • Exposures during pregnancy which may cause birth defects
  • Consanguinity
  • Carrier screening for genetic conditions that are more common for some ethnic backgrounds


Genetics counseling is appropriate for children with:

  • Developmental delay/autism spectrum disorders
  • Multiple health problems or birth defects
  • Abnormal physical features
  • Family history of a genetic condition


Individuals with a personal/family history or symptoms of an adult-onset genetic condition may benefit from genetic counseling to learn about:

  • The risk that they or their children may be diagnosed with/develop an adult-onset condition
  • Genetic testing options available for diagnosis or predictive testing
  • Carrier screening for genetic conditions that are more common in individuals of certain ethnic backgrounds


Cancer genetic counseling can help an individual determine whether or not they have inherited an increased risk for cancer. People who see a genetic counselor include individuals with a personal or family history of:

  • Cancer, such as breast or colon cancer, under the age of 50
  • Two or more first-degree relatives on the same side of their family who have been diagnosed with cancer
  • Assessment for Ontario Breast Screening Program qualification
  • More than one primary cancer in the same individual (such as two primary breast cancers, or primary colon cancer and primary stomach cancer)
  • More than one type of cancer in the same individual
  • A rare type of cancer or tumor pathology
  • A known genetic mutation in a cancer susceptibility gene in their family
  • An ethnicity associated with a higher frequency of hereditary cancer syndromes (e.g. Ashkenazi or Eastern European Jewish descent)

How to Refer Patients

Physicians please complete the Genetics Referral form and fax to 905-883-2052.

For cancer referrals, please have your patient complete the Mackenzie Health Genetics Cancer Questionnaire and send it along with the Genetics referral form.

What will I have online access to?

If you sign up for MyChart, you will have online access to:

  • Check in online 7 days prior to your next appointment using our eCheck-In* service
  • View past and upcoming appointments
  • View preparation instructions for upcoming appointments
  • Complete pre-visit questionnaires*
  • Cancel appointments*
  • Update your demographics at any time (includes address, phone number, family physician, and more)
  • View lab and test results
  • View and share Diagnostic images including X-rays, ultrasounds, CTs, MRI and more
  • Clinical notes on your care and treatment
  • Track your health*
  • Access your list of conditions or medical concerns diagnosed at Mackenzie Health as well as your prescribed medications and known allergies

*Available for select clinics

You can register for MyChart by visiting and selecting Self-Sign Up Now.

How do I complete a pre-visit questionnaire?

Should you be required to complete a questionnaire before your visit, these can be accessed in MyChart through the Health menu then selecting Questionnaires and Surveys. Here you will see a list of questionnaires to be completed along with their due dates, which is typically the date of your upcoming appointment.

If you have been assigned a questionnaire, it is recommended to review this as soon as possible as it may take some time and communication with family members to complete questions around your family history. Once you start a questionnaire, you can save and complete it at another time by selecting the Finish Later button. Once you are ready to submit your completed questionnaire you will be able to review and confirm all your responses should anything need to be changed.

Mackenzie Richmond Hill Hospital

Genetics Clinic
B-Wing, Level 2
10 Trench Street
Richmond Hill, ON L4C 4Z3
Local to Richmond Hill: 905-883-1212 ext. 7579
Local to Vaughan: 905-832-4554 ext. 7579
Fax: 905-883-2052
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