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  4. Genetics

Genetics

Medical genetics focuses on how genetic or inherited conditions can affect a child’s health and development.

A child's health and development can be influenced by their genetic factors and family’s health history. We support families by offering pediatric genetic counselling and reproductive genetic counselling.

Both children and women meet with the genetics team for a variety of reasons. 

A child may be referred to genetics for:

  • Birth defect
  • Unusual appearance
  • Developmental delay or loss of skills
  • Autism
  • Speech delay
  • Muscle problems
  • Problems with the brain, spinal cord or other nerves
  • Certain types of cancer or non-cancerous tumors
  • Blood disorder
  • Endocrine issues
  • Family history of a genetic or chromosomal disorder

A woman may be referred to genetics for:

  • Pregnancy over the age of 40
  • Personal or family history of a genetic or chromosomal disorder
  • Personal or family history of birth defects or unexplained developmental delay
  • Concerns about harmful exposure during pregnancy
  • A disease that can cause birth defects or developmental concerns in a child
  • Abnormal ultrasound results
  • At-risk ethnic groups

Pediatric Genetic Counselling

When families visit our clinic, they have a lot of questions about their child’s health. We gather information to help reach a diagnosis. We do this by:

  • Reviewing your child’s:
    • Prenatal history
    • Birth history
    • Developmental history
    • Medical history
    • Family history
  • Completing a physical examination

Once our team has analyzed this information, we meet with your family to talk about possible genetic testing, the results of genetic tests and the possible diagnosis. We make recommendations and referrals to make sure you are connected with the right services for you and your child. 

Receiving a medical diagnosis for your child can be stressful, and our team is here for you. Families can meet with a genetic counsellor for emotional support and to discuss family planning if appropriate.

Reproductive Genetic Counselling

Reproductive genetic counselling provides individuals and couples with information to help them make important decisions before getting pregnant and during pregnancy. 

In some cases, two people trying to conceive will have carrier testing done for a genetic condition that exists in the family or that is common in their ethnic group. We also help couples review the benefits and limitations of tests like chorionic villus sampling (CVS) and amniocentesis (sampling of amniotic fluid) for finding abnormalities in the fetus.

Referral Information

It’s recommended that your doctor refers you to our team. This should occur before conception or as early in the pregnancy as possible. Some of the genetic tests can take a few weeks to complete. The earlier your referral is made, the sooner we can talk about your options so that you can make the best decision for yourself and your family. 

Our clinic is located in Ellis Hall in the Royal University Hospital in Saskatoon. When you arrive for your appointment, register in room 515 on the 5th floor. 

Anyone needing to see a medical geneticist will need to do so at our clinic in Saskatoon. If you are meeting with the genetic counsellor and live far from Saskatoon, it may be possible to be seen in your home community via audio/video conferencing (TeleHealth).

Call: 306-655-1692

Email: medicalgenetics@saskatoonhealthregion.ca

Sources of Medical Information

  1. The Division of Medical Genetics - Royal University Hospital-FAQS for Patients.
  2. The Division of Medical Genetics - Royal University Hospital-Genetics Services.
  3. The Division of Medical Genetics - Royal University Hospital-Pediatric Services.
  4. The Division of Medical Genetics - Royal University Hospital-Reproductive Services.

Related Pages

  • Infant & Child Health

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  • Pregnancy, Birth & Newborns
    • Midwifery
    • Prenatal Care & Support
      • PRAMS (Prevention of Alloimmunization in Mothers of Saskatchewan) Program
      • Prenatal Education
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      • Prenatal Support Programs
    • Labour & Birth
      • What to Pack for You and Baby
      • Who to Bring to the Hospital
      • Staying at the Hospital
      • Pain Management Options in Labour
    • Postnatal & Newborn Care
      • Circumcision
      • Newborn Vitamin K Injection
      • Baby-Friendly Initiative
      • Feeding Your Newborn
      • Milk Bank and Donating
      • Mom's Care at Home
      • Newborn Care at Home
      • Postpartum Visiting Program
      • Newborn Hearing Screen
      • Newborn Screening Blood Work
    • Pregnancy & Infant Loss
    • Maternal Mental Health
    • Neonatal Intensive Care
      • Neonatal Transport
      • NICU Volunteer Programs
  • Infant & Child Health
    • Specialty Care
      • Assistive Technology
      • Audiology
      • Augmentative & Alternative Communication
      • Cardiology
      • Cleft Lip & Palate
      • Cystic Fibrosis
      • Development
      • Ear, Nose & Throat
      • Diabetes & Endocrinology
      • Gastroenterology
      • Genetics
      • Hematology
      • Infectious Diseases
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      • Neonatal Follow-Up
      • Nephrology
      • Neurology
      • Orthopedic Clinic
      • Outpatient Clinics
      • Pain Clinic
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      • Respiratory Syncytial Virus Program
      • Respirology
      • Rheumatology
      • Social Pediatrics
      • Specialized Seating
    • Inpatient Care
      • Irene & Leslie Dube Centre for Mental Health
      • Keeping Up with School
      • Packing for Your Child's Hospital Stay
      • Your Child's Stay at the Hospital
    • Surgery
      • Preparing Your Child for Surgery
      • Surgery Recovery
    • Autism Supports and Services
      • Early Signs of Autism
      • Autism Diagnostic Assessment Information
      • Saskatchewan Local Autism Programs
      • Saskatchewan Autism Navigation
    • Programs for Kids
      • Child Life Specialist
      • Exercise Therapy
      • Hearing Health
      • Home Care
      • KidsFirst
      • Occupational Therapy
      • Physical Therapy
      • Psychology
      • Respite Care
      • SPARC Program
      • Specialized Feeding
      • Speech Language Pathology
    • Primary Health Care & Public Health
      • Immunization
    • PICU Transport Team
    • Pediatric Out-of-Province Travel Assistance Program
  • Jim Pattison Children’s Hospital
    • Inside Our Hospital
      • Childminding
      • Children’s Emergency Department
      • Day Medicine
      • Family & Play Spaces
      • Family Theatre
      • JPCH Children’s Therapies
      • Maternal Care Centre
      • Maternal Outpatient Clinic
      • Neonatal Intensive Care Unit (NICU) at JPCH
      • Pediatric Inpatient Unit
      • Pediatric Intensive Care Unit (PICU)
      • Pediatric Outpatient Clinic
      • Pediatric Surgery & Recovery
      • School Room
      • Sleep Lab
      • Special Procedure Room/Catheterization Lab
      • Teammates for Kids Child Life Zone
    • Visitor Information
    • Parking
    • Directions
    • Contact Jim Pattison Children's Hospital
  • Hospitals & Facilities
    • Hospitals & Health Centres
      • Regina General Hospital
      • Victoria Hospital
      • Lloydminster Hospital
      • Yorkton & Regional Health Centre
      • Dr. F. H. Wigmore Regional Hospital
      • Battlefords Union Hospital
      • Cypress Regional Hospital
      • Melfort Hospital
      • St Joseph's Hospital
      • Meadow Lake Hospital
      • La Ronge Health Centre
      • Humboldt District Health Complex
      • Nipawin Hospital
      • Kindersley & District Health Centre
      • South East Integrated Care Centre
      • All Nations Healing Hospital (ANHH)
    • Rehabilitation & Development Facilities
      • Alvin Buckwold Child Development Program
      • Children's Program
  • Emergencies
    • Is it an Emergency?
    • HealthLine 811
  • About Us
    • Moms & Kids Programs and Services
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