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GTR Home > Laboratories > Genome Diagnostics Laboratory

Genome Diagnostics Laboratory

GTR Lab ID: 1043, Last updated:2022-10-27

Personnel

  • Director: Michelle Axford, PhD, Lab Director
  • Director: Kathy Chun, PhD, ABMG, FACMG, DABMG, Lab Director
  • Director: Rebekah Jobling, MD, Lab Director
  • Director: Lianna Kyriakopoulou, PhD, ABMG, DABMG, Lab Director
    Email: lianna.kyriakopoulou@sickkids.ca
  • Director: Christian Marshall, PhD, ABMG, FACMG, DABMG, Lab Director
    Email: crm@sickkids.ca
  • Director: Martin Somerville, PhD, Lab Director
    Email: martin.somerville@sickkids.ca
  • Director: James Stavropoulos, PhD, Lab Director
    Email: james.stavropoulos@sickkids.ca
  • Niri Carroll, MS, Certified Genetic counselor, CGC, Genetic Counselor
  • Jennifer Keating, MS, Certified Genetic counselor, CGC, Genetic Counselor
  • Anna Pan, MS, Genetic Counselor
  • Leslie Steele, MSc, Co-ordinator
    Phone: 416-813-7200 ext 1
    Fax: 416-813-7732
    Email: leslie.steele@sickkids.ca
  • Diana Matviychuk, MS, Certified Genetic counselor, CGC, Genetic Counselor

Conditions and tests

  • Achondroplasia1 test
  • Acrocephalosyndactyly type I1 test
  • Angelman syndrome1 test
  • Angiokeratoma corporis diffusum1 test
  • Arrhythmogenic right ventricular cardiomyopathy1 test
  • Arrhythmogenic right ventricular dysplasia 101 test
  • Arrhythmogenic right ventricular dysplasia 111 test
  • Arrhythmogenic right ventricular dysplasia 51 test
  • Arrhythmogenic right ventricular dysplasia 81 test
  • Arrhythmogenic right ventricular dysplasia 91 test
  • Atypical hemolytic-uremic syndrome with B factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with C3 anomaly1 test
  • Atypical hemolytic-uremic syndrome with I factor anomaly1 test
  • Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly1 test
  • Atypical hemolytic-uremic syndrome with thrombomodulin anomaly1 test
  • Autosomal dominant nonsyndromic hearing loss 11 test
  • Autosomal dominant nonsyndromic hearing loss 101 test
  • Autosomal dominant nonsyndromic hearing loss 111 test
  • Autosomal dominant nonsyndromic hearing loss 121 test
  • Autosomal dominant nonsyndromic hearing loss 151 test
  • Autosomal dominant nonsyndromic hearing loss 171 test
  • Autosomal dominant nonsyndromic hearing loss 201 test
  • Autosomal dominant nonsyndromic hearing loss 221 test
  • Autosomal dominant nonsyndromic hearing loss 231 test
  • Autosomal dominant nonsyndromic hearing loss 251 test
  • Autosomal dominant nonsyndromic hearing loss 281 test
  • Autosomal dominant nonsyndromic hearing loss 2A1 test
  • Autosomal dominant nonsyndromic hearing loss 361 test
  • Autosomal dominant nonsyndromic hearing loss 3A1 test
  • Autosomal dominant nonsyndromic hearing loss 4A1 test
  • Autosomal dominant nonsyndromic hearing loss 51 test
  • Autosomal dominant nonsyndromic hearing loss 61 test
  • Autosomal dominant nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 151 test
  • Autosomal recessive nonsyndromic hearing loss 161 test
  • Autosomal recessive nonsyndromic hearing loss 1A3 tests
  • Autosomal recessive nonsyndromic hearing loss 1B1 test
  • Autosomal recessive nonsyndromic hearing loss 21 test
  • Autosomal recessive nonsyndromic hearing loss 211 test
  • Autosomal recessive nonsyndromic hearing loss 221 test
  • Autosomal recessive nonsyndromic hearing loss 231 test
  • Autosomal recessive nonsyndromic hearing loss 241 test
  • Autosomal recessive nonsyndromic hearing loss 251 test
  • Autosomal recessive nonsyndromic hearing loss 281 test
  • Autosomal recessive nonsyndromic hearing loss 291 test
  • Autosomal recessive nonsyndromic hearing loss 31 test
  • Autosomal recessive nonsyndromic hearing loss 301 test
  • Autosomal recessive nonsyndromic hearing loss 351 test
  • Autosomal recessive nonsyndromic hearing loss 361 test
  • Autosomal recessive nonsyndromic hearing loss 371 test
  • Autosomal recessive nonsyndromic hearing loss 391 test
  • Autosomal recessive nonsyndromic hearing loss 41 test
  • Autosomal recessive nonsyndromic hearing loss 421 test
  • Autosomal recessive nonsyndromic hearing loss 491 test
  • Autosomal recessive nonsyndromic hearing loss 591 test
  • Autosomal recessive nonsyndromic hearing loss 61 test
  • Autosomal recessive nonsyndromic hearing loss 631 test
  • Autosomal recessive nonsyndromic hearing loss 671 test
  • Autosomal recessive nonsyndromic hearing loss 71 test
  • Autosomal recessive nonsyndromic hearing loss 771 test
  • Autosomal recessive nonsyndromic hearing loss 791 test
  • Autosomal recessive nonsyndromic hearing loss 81 test
  • Autosomal recessive nonsyndromic hearing loss 84A1 test
  • Autosomal recessive nonsyndromic hearing loss 91 test
  • Autosomal recessive nonsyndromic hearing loss 911 test
  • Baraitser-winter syndrome 21 test
  • Beckwith-Wiedemann syndrome1 test
  • Bloom syndrome1 test
  • Branchiootorenal syndrome 12 tests
  • Ceroid lipofuscinosis, neuronal, 6A1 test
  • CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
  • CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
  • CHARGE association2 tests
  • Charlevoix-Saguenay spastic ataxia1 test
  • Chudley-McCullough syndrome1 test
  • Congenital muscular dystrophy1 test
  • Cystic fibrosis1 test
  • Deafness1 test
  • Dilated cardiomyopathy 3B1 test
  • Dopamine beta-hydroxylase deficiency1 test
  • Familial dysautonomia1 test
  • Fanconi anemia complementation group C1 test
  • Fibrous dysplasia of jaw1 test
  • Finnish congenital nephrotic syndrome1 test
  • Focal segmental glomerulosclerosis1 test
  • Focal segmental glomerulosclerosis 11 test
  • Focal segmental glomerulosclerosis 21 test
  • Focal segmental glomerulosclerosis 31 test
  • Fragile X syndrome1 test
  • FRAXE1 test
  • Gaucher disease1 test
  • Hecht syndrome1 test
  • Hemolytic uremic syndrome, atypical, susceptibility to, 12 tests
  • Hereditary sensory and autonomic neuropathy with spastic paraplegia1 test
  • Hereditary spastic paraplegia2 tests
  • Hereditary spastic paraplegia 111 test
  • Hereditary spastic paraplegia 151 test
  • Hereditary spastic paraplegia 391 test
  • Hereditary spastic paraplegia 5A1 test
  • Hereditary spastic paraplegia 71 test
  • Hypochondroplasia1 test
  • Hypogonadotropic hypogonadism 5 with or without anosmia1 test
  • Jervell and Lange-Nielsen syndrome1 test
  • Jervell and Lange-Nielsen syndrome 21 test
  • Kennedy disease1 test
  • Li-Fraumeni syndrome1 test
  • Mast syndrome1 test
  • Mesangiocapillary glomerulonephritis, type II1 test
  • Mucolipidosis type IV1 test
  • Mucopolysaccharidosis, MPS-II1 test
  • Muenke syndrome1 test
  • Muscle eye brain disease1 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A11 test
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A21 test
  • Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B41 test
  • Muscular dystrophy-dystroglycanopathy type B51 test
  • Nephrotic syndrome, type 21 test
  • Neuronal ceroid lipofuscinosis1 test
  • Neuronal ceroid lipofuscinosis 11 test
  • Neuronal ceroid lipofuscinosis 101 test
  • Neuronal ceroid lipofuscinosis 21 test
  • Neuronal ceroid lipofuscinosis 31 test
  • Neuronal ceroid lipofuscinosis 51 test
  • Neuronal ceroid lipofuscinosis 71 test
  • Neuronal ceroid lipofuscinosis 81 test
  • Pendred syndrome2 tests
  • Pfeiffer syndrome1 test
  • Prader-Willi syndrome1 test
  • Qualitative or quantitative defects of dystrophin1 test
  • Saethre-Chotzen syndrome1 test
  • Shwachman-Diamond syndrome 11 test
  • Silver-Russell syndrome 11 test
  • Silver-Russell syndrome due to an imprinting defect of 11p151 test
  • Simpson-Golabi-Behmel syndrome type 11 test
  • Sphingomyelin/cholesterol lipidosis1 test
  • Spinal muscular atrophy2 tests
  • Spongy degeneration of central nervous system1 test
  • Tay-Sachs disease1 test
  • Telangiectasia, hereditary hemorrhagic, type 11 test
  • Telangiectasia, hereditary hemorrhagic, type 21 test
  • Thanatophoric dysplasia type 11 test
  • Thanatophoric dysplasia, type 21 test
  • Troyer syndrome1 test
  • Usher syndrome type 1B1 test
  • Usher syndrome type 1D1 test
  • Usher syndrome type 1F1 test
  • Usher syndrome type 21 test
  • Usher syndrome type 2C1 test
  • Velocardiofacial syndrome1 test
  • Wolfram syndrome 11 test
  • X-linked mixed hearing loss with perilymphatic gusher1 test
  • X-linked nonsyndromic hearing loss1 test

List of services

  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Confirmation of research findings
  • Custom Deletion/Duplication Testing
  • Prenatal testing
  • Custom Sequence Analysis
  • Carrier testing
  • Genetic counseling
  • Identity Testing
  • Mutation Confirmation
  • Result interpretation
  • X-Chromosome Inactivation Studies

List of certifications/licenses

Certifications

  • CLIAHelp, Number: 99D1014032, Expiration date: 2022-08-17
  • CAP, Number: 1071902, Expiration date: 2024-06-18
  • Ontario Lab Accreditation, Number: 4159, Expiration date: 2020-06-13

Participation in external programs

Standardization programs

  • CETT Program (Collaboration Education and Test Translation)
  • Other

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.