Lab information sheets

This page includes documents used by the Department of Paediatric Laboratory Medicine (DPLM) at SickKids. 

• 22q11 Deletion Syndrome (PDF)
• Achondroplasia Hypochondroplasia (PDF)
• Adult Reference Ranges for Steroid Panel (PDF)
• aHUS-MPGN (PDF)
• AJ Screening Panel (PDF)
• Angelman Syndrome (PDF)
• ARVC (PDF)
• ATRT Subgrouping Panel (PDF)
• Beckwith Wiedemann Syndrome (PDF)
• Bone Marrow Transplant Testing (PDF)
• Branchio-oto Renal Syndrome (PDF)
• Caffey Disease (PDF)
• Charge Syndrome (PDF)
• Cherubism (PDF)
• Complement Based Renal Disease (PDF)
• Congenital Muscular Dystrophy (PDF)
• Connective tissue disorders
  • Bone involvement Panel (PDF)
  • Ehlers Danlos Syndrome (PDF)
  • Osteogenesis Imperfecta (PDF)
  • Osteopetrosis and Increased Bone Density (PDF)
• Craniosynostosis (PDF)
• Cystic fibrosis and CFTR related disorders (PDF)
• DFN3-X linked hearing loss (PDF)
• Dopamine Beta Hydroxylase Deficiency (PDF)
• Duchenne Becker Muscular Dystrophy (PDF)
• Exons not part of NGS Testing (PDF)
• Ependymoma Fusion Transcript Panel (PDF)
• Fabry Disease (PDF)
• FMR1 related disorders (PDF)
• Focal Segmental Glomerulosclerosis (PDF)
• FRAXE Molecular Analysis (PDF)
• Gaucher Disease (PDF)
• Guide to Interpreting Sequence Variants (PDF)
• Guide to Next-Generation Sequencing (PDF)
• Hereditary Hearing Loss
  • Common and non-syndromic (PDF)
  • Stickler Syndrome (PDF)
  • Syndromic (PDF)
  • Usher Syndrome (PDF)
• Hereditary Hemorrhagic Telangiectasia (PDF)
• Hereditary Spastic Paraplegia (PDF)
• Hunter Disease (PDF)
• Identity testing
  • MCC Fetal Sexing (PDF)
  • Zygosity Testing (PDF)
  • Tissue matching (PDF)
• Insulin Like Growth Factor 1 Reference Ranges (PDF)
• Li Fraumeni Syndrome (PDF)
• Low Grade Glioma Fusion Transcript Panel (PDF)
• Lysosmal Enzyme Specimen Collection Guide (PDF)
• Medulloblastoma Subtyping Panel (PDF)
• Mitochondrial Hearing Loss (PDF)
• Molecular Genetics Specimen Type and Requirements (PDF) 
• Neurofibromatosis Type 1 Legius Syndrome (PDF)
• Neuronal Ceroid Lipofuscinoses (PDF)
• Non-Syndromic Hearing Loss Connexin 26 and 30 (PDF)
• Noonan Syndrome and RASopathies Panel (PDF)
• Molecular Pathology - TruSight RNA Pan-Cancer Target Genes
• Pendred Syndrome (PDF)
• Plasma Amino Acids Reference Ranges (PDF)
• Prader Willi Syndrome (PDF)
• Recurrent Fever Syndrome Autoinflammatory (PDF)
• Reference Ranges for Hyperoxaluria (PDF)
• Rhabdoid Tumour Predisposition Syndrome (PDF)
• Russell Silver Syndrome (PDF)
• Sarcoma Fusion Transcript Panel (PDF)
• Shwachman Diamond Syndrome (PDF)
• Simpson Golabi Behmel Syndrome (PDF)
• Spinal and Bulbar Muscular Atrophy (PDF)
• Spinal Muscular Atrophy (PDF)
• Thanatophoric Dysplasia Type 1 and 2 (PDF)
• Trismus Pseudocamptodactyly Syndrome (PDF)
• X Chromosome Inactivation (PDF)