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Lab test catalogue
Browse or search our laboratory test catalogue for more information on the tests and diagnostic services offered by the Department of Paediatric Laboratory Medicine (DPLM) at SickKids.
Our goal is to make the process of finding and ordering a test as simple as possible. Tests are categorized by lab discipline. Within each test specific page are the specimen requirements, ordering information, interpretation details and appropriate requisitions.
Using the search box at the top of the page, you are able to search by entering:
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Genome Diagnostics - Molecular Genetics
- 22q11.2 Deletion Syndrome
- Achondroplasia / Hypochondroplasia
- Angelman Syndrome
- Ashkenazi Jewish Screening Panel
- Atypical Hemolytic Uremic Syndrome and Membranoproliferative Glomerulonephritis Panel: Sequencing
- Autoinflammatory Disease Panel: Recurrent Fever Syndrome
- Autoinflammatory Disease: Hemophagocytic Lymphohistiocytosis (HLH) panel
- Becker Muscular Dystrophy
- Beckwith-Wiedemann Syndrome
- Bloom Syndrome: BLM Recurrent Mutations
- Bone Marrow Transplant Testing (BMT)
- Branchio-Oto-Renal Syndrome: EYA1
- Caffey Disease: COL1A1 Recurrent Mutation
- Canavan Disease
- CHARGE Syndrome: CHD7
- Cherubism: SH3BP2
- Congenital Muscular Dystrophies Panel: Sequencing
- Connective Tissue Disease: Bone Involvement Panel
- Craniosynostosis Molecular Analysis
- Cystic Fibrosis
- DNA Banking
- Dopamine Beta-Hydroxylase Deficiency: DBH Sequencing
- Duchenne Muscular Dystrophy
- Fabry Disease
- Familial Dysautonomia
- Fanconi Anemia Group C: FANCC Recurrent Mutations
- Focal Segmental Glomerulosclerosis Panel
- Fragile X Syndrome
- FRAXE
- Hearing Loss, Non-Syndromic (GJB2 and GJB6)
- Hearing Loss: Pendred Syndrome (SLC26A4)
- Hereditary Hearing Loss: Common and Non-Syndromic Hearing Loss Panel
- Hereditary Hearing Loss: Stickler Syndrome
- Hereditary Hearing Loss: Syndromic Hearing Loss - Treacher Collins syndrome, Waardenburg syndrome, Norrie syndrome, Alport syndrome
- Hereditary Hearing Loss: Usher Syndrome
- Hereditary Hemorrhagic Telangiectasia: ACVRL1, ENG
- Hereditary Hemorrhagic Telangiectasia: SMAD4 Sequencing
- Hereditary Spastic Paraplegia: Autosomal Dominant
- Hereditary Spastic Paraplegia: Autosomal Recessive
- Hereditary Spastic Paraplegia: X-Linked
- Hunter Disease
- Identity Testing - MCC Studies, Zygosity
- Mucolipidosis Type 4: MCOLN1 Recurrent Mutations
- Neurofibromatosis Type 1/Legius Syndrome
- Neuronal Ceroid Lipofuscinoses
- Niemann Pick Disease Type A and B: SMPD1 Recurrent Mutations
- Noonan Syndrome and RASopathies
- Prader-Willi Syndrome
- Russell Silver Syndrome
- Shwachman-Diamond Syndrome
- Simpson-Golabi-Behmel Syndrome: GPC3 Sequencing, GPC3 and GPC4 Deletion/Duplication Analysis
- Spinal and Bulbar Muscular Atrophy (SBMA)
- Spinal Muscular Atrophy
- Thanatophoric Dysplasia (Type I & II)
- Trismus-Pseudocamptodactyly Syndrome: MYH8 Sequencing
- X-Inactivation Analysis
Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200
Browse tests by laboratory
Customer Service
Toll Free: 1-855-381-3212
Local: 416-813-7200