Genome Diagnostics Laboratory (The Hospital for Sick Children), SKGD

General information

Genome Diagnostics Laboratory, SKGD
The Hospital for Sick Children
555 University Ave
Toronto
Ontario
Canada - M5G 1X8
http://www.sickkids.ca/dplm
Organization ID: 1043

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 396

Gene

GeneSubmissionsLast Updated
LOC1118119653Feb 11, 2021
NF1396Feb 11, 2021

Condition

NameSubmissionsLast Updated
Neurofibromatosis, type 1396Feb 11, 2021

Testing in GTR

Disease nameNumber of tests
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Angelman syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy1 test
Arrhythmogenic right ventricular cardiomyopathy, type 101 test
Arrhythmogenic right ventricular cardiomyopathy, type 111 test
Arrhythmogenic right ventricular cardiomyopathy, type 51 test
Arrhythmogenic right ventricular dysplasia 81 test
Arrhythmogenic right ventricular dysplasia 91 test
Atypical hemolytic-uremic syndrome 12 tests
Atypical hemolytic-uremic syndrome 21 test
Atypical hemolytic-uremic syndrome 31 test
Atypical hemolytic-uremic syndrome 41 test
Atypical hemolytic-uremic syndrome 51 test
Atypical hemolytic-uremic syndrome 61 test
Beckwith-Wiedemann syndrome1 test
Bloom syndrome1 test
Branchiootorenal Syndrome 11 test
CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II1 test
CHARGE association1 test
Ceroid lipofuscinosis neuronal 21 test
Charlevoix-Saguenay spastic ataxia1 test
Congenital muscular dystrophy1 test
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B51 test
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A21 test
Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B41 test
Cystic fibrosis1 test
DFNA 3 Nonsyndromic Hearing Loss and Deafness1 test
Deafness, X-linked 21 test
Deafness, autosomal dominant 3a1 test
Deafness, autosomal recessive 1A2 tests
Dilated cardiomyopathy 3B1 test
Dystrophinopathies1 test
FRAXE1 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
Gaucher disease1 test
Hecht syndrome1 test
Hereditary hemorrhagic telangiectasia type 11 test
Hereditary spastic paraplegia2 tests
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
Idiopathic nephrotic syndrome1 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 A, 11 test
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 31 test
Neuronal ceroid lipofuscinosis 51 test
Neuronal ceroid lipofuscinosis 61 test
Neuronal ceroid lipofuscinosis 71 test
Neuronal ceroid lipofuscinosis 81 test
Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive1 test
Orthostatic hypotension 11 test
Pendred syndrome1 test
Pfeiffer syndrome1 test
Prader-Willi syndrome1 test
Russell-Silver syndrome1 test
Saethre-Chotzen syndrome1 test
Shprintzen syndrome1 test
Shwachman-Diamond syndrome 11 test
Silver-Russell syndrome due to an imprinting defect of 11p151 test
Simpson-Golabi-Behmel syndrome type 11 test
Spastic paraplegia 11, autosomal recessive1 test
Sphingomyelin/cholesterol lipidosis1 test
Spinal muscular atrophy2 tests
Spongy degeneration of central nervous system1 test
Tay-Sachs disease1 test
Telangiectasia, hereditary hemorrhagic, type 21 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
Troyer syndrome1 test
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