Genome Diagnostics Laboratory

Genome Diagnostics Laboratory, Formerly Molecular Genetics Laboratory
Hospital For Sick Children (SickKids)
Department: Paediatric Laboratory Medicine
555 University Ave
Toronto, Ontario, Canada M5G 1X8
Phone: 001-416-813-7200 x1
Email: leslie.steele@sickkids.ca
Website: https://www.sickkids.ca/en/care-services/for-health-care-providers/lab-testing-services/

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GTR Lab ID: 1043, Last updated:2022-10-27
Annual Review past due read more

Personnel

Director: Michelle Axford, PhD, Lab Director
Director: Kathy Chun, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, Lab Director
Director: Rebekah Jobling, MD, Lab Director
Director: Lianna Kyriakopoulou, PhD, ABMGG Board Certified, Diplomate of the American Board of Medica, Lab Director
Email: lianna.kyriakopoulou@sickkids.ca
Director: Christian Marshall, PhD, ABMGG Board Certified, FACMG, Diplomate of the American Board of, 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

152 conditions/phenotypes with 90 tests
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Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Angelman syndrome1 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
Fabry disease1 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
Orthostatic hypotension 11 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

CLIAHelpCertification number assigned by the Clinical Laboratory Improvement Amendments (CLIA) program to the laboratory director. Minimal field for US labs offering clinical tests. Optional field for international labs or US labs performing research tests. If pending renewal or record has not been updated, the expiration date may be in the past., 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.