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Paediatric Laboratory Medicine

Genome Diagnostics

The Genome Diagnostics Laboratory at The Hospital for Sick Children (SickKids) specializes in genetic testing for rare hereditary disorders affecting the pediatric population.  Most of our tests include full gene analysis by DNA sequencing, with many based on comprehensive gene panels analyzed with next generation sequencing technology.

The laboratory, formally the Molecular Genetics Laboratory was founded in 1987 and has been dedicated to providing state of the art genetic diagnostics to the medical community.  The laboratory has a team of board certified laboratory directors and genetic counsellors available to answer physician and staff questions related to our services.

Through its affiliation with the Sickkids Research Institute and The Centre for Applied Genomics the laboratory is committed to supporting research and translating new genetic discoveries and technologies into clinical care for patients and their families.

Both the Genome Diagnostics Laboratory and Cytogenetics Laboratory are licensed and accredited as follows:

  • CAP Accreditation
  • OLA Accreditation
  • CLIA ID Number: 99D1014032
  • Licensed by the Ontario Ministry of Health and Long-Term Care (MoHLTC) 

Genome Diagnostics Laboratory  

The Genome Diagnostics Laboratory offers clinical genetic testing for rare genetic disorders, with a focus on paediatric genetic conditions. 

We are staffed by professionally-trained CCMG-accredited molecular geneticists, genetic counsellors, and molecular technologists and technicians.

The laboratory offers a number of test services including:

  • recurrent panels for conditions where common mutations are known
  • gene sequencing and deletion/duplication analysis
  • targeted testing for known familial mutations 

Our staff work closely with clinicians to facilitate appropriate genetic testing for patients, and assist in the interpretation of results and their relevance to clinical care.

The Genome Diagnostics Laboratory has earned a national and international reputation for excellence in the molecular diagnosis of genetic disorders and continues to grow in response to this rapid growth in laboratory medicine.

Complete list of Genome Diagnostic tests


Contact the Genome Diagnostics Laboratory

Leslie Steele, MSc
Genetics Lab Coordinator

Jennifer Keating, MSc CGC
Genetics Counsellor

Diana Matviychuk, MSc, CCGC, CGC
Genetic Counsellor

Phone: 416-813-7200 ext.1
Fax: 416-813-7732


Cytogenetics Laboratory  

The Cytogenetics Laboratory specializes in the genomic analysis of paediatric specimens, referred for a wide range of:

  • constitutional conditions
  • cancer diagnosis and management

We are a Children’s Oncology Group (COG)-Approved laboratory. The laboratory is unique in the province of Ontario in having a substantial caseload of specialized testing for the chromosome instability syndromes.

The laboratory has expertise in Genomic Microarray Analysis and offers a large variety of FISH tests.

Complete list of Cytogenetics tests

Contact the Cytogenetics Laboratory

Customer Service Line: 416-813-7200 ext.1
Cytogenetics Laboratory Fax: 416-813-7732
Email: cytogenetics.requests@sickkids.ca

Note that temporarily, the turnaround time for routine constitutional G-band Karyotyping, FISH analysis, and genomic microarray analysis is up to 10 weeks.


Clinical Fibroblast Service  

The Clinical Fibroblast Service (CFS) is a biorepository service that establishes, banks and distributes fibroblast cell lines, primarily for diagnostic testing. 

Details About Our Service

All requests must be accompanied by a signed requisition completed appropriately for the required service(s). The most current version of the requisition is available here.

Note: Services for research fibroblast and lymphoblastoid cell lines are available at The Centre of Applied Genomics.

Acceptable Specimen Types

Fibroblast cell lines can only be established from live cells. Acceptable specimens for this service are limited to fresh tissue biopsy (not frozen or fixed) originating from skin, cartilage, umbilical cord or other body-part containing connective tissue from which fibroblast lines could be generated.

Instructions for Submission 

Contact the Clinical Fibroblast Service

Clinical Fibroblast Service
Cytogenetics Laboratory, Division of Genome Diagnostics
Department of Paediatric Laboratory Medicine
The Hospital for Sick Children
Room 3415, Black Wing
555 University Avenue,
Toronto, ON, Canada, M5G 1X8

Tel: 416‐813‐7654 ext. 302394
Fax: 416‐813‐7732