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Molecular Genetics Laboratory (London Health Sciences Centre)

General information

Molecular Genetics Laboratory
London Health Sciences Centre
800 Commissioner's Road E
Room B10-123, Victoria Hospital
London
Ontario
Canada - N6A 5W9
http://www.lhsc.on.ca/palm/molecular.html
Organization ID: 21463

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 1915

Gene

GeneSubmissionsLast Updated
AARS124Feb 5, 2020
AIFM119Apr 7, 2020
DNAJB221Apr 7, 2020
DYNC1H1166Apr 7, 2020
EGR219Apr 7, 2020
FGD435Apr 7, 2020
FIG471Apr 7, 2020
GARS146Apr 7, 2020
GDAP130Apr 7, 2020
GJB121Apr 7, 2020
HSPB134Apr 7, 2020
IGHMBP2125Apr 7, 2020
KIF1B109Apr 7, 2020
KMT2D1May 13, 2019
LITAF20Apr 7, 2020
LMNA59Apr 7, 2020
LOC10192800821Apr 7, 2020
LOC10536914921Apr 7, 2020
LOC1128722991Apr 7, 2020
LOC1268056144Apr 7, 2020
LOC1268058772Apr 7, 2020
LOC1268603303Apr 7, 2020
LOC1268605319Apr 7, 2020
LOC1268612459Apr 7, 2020
LOC1268620605Apr 7, 2020
LOC1293884462Apr 7, 2020
LOC1299294261Apr 7, 2020
LOC1299315971Apr 7, 2020
LOC1300006228Apr 7, 2020
LOC1300644546Apr 7, 2020
LOC1300686791Apr 7, 2020
LRSAM168Apr 7, 2020
MARS161Apr 7, 2020
MED2571Apr 7, 2020
MFN283Apr 7, 2020
MIR68001Apr 7, 2020
MIR68412Apr 7, 2020
MPZ44Apr 7, 2020
MTMR237Apr 7, 2020
NDRG150Apr 7, 2020
NEFL47Apr 7, 2020
PDK310Apr 7, 2020
PLD32Apr 7, 2020
PMP2229Apr 7, 2020
PRX172Apr 7, 2020
RAB33A19Apr 7, 2020
RAB7A10Apr 7, 2020
SBF2108Apr 7, 2020
SBF2-AS130Apr 7, 2020
SH3TC2151Apr 7, 2020
SPTLC132Apr 7, 2020
TRPV4113Apr 7, 2020
TTR29Apr 7, 2020

Condition

NameSubmissionsLast Updated
Charcot-Marie-Tooth disease1914Apr 7, 2020
Kabuki syndrome 11May 13, 2019

Testing in GTR

Disease nameNumber of tests
3-Methylglutaconic aciduria type 31 test
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder1 test
Acquired polycythemia vera1 test
Alpha mannosidosis type II1 test
Alpha thalassemia-X-linked intellectual disability syndrome1 test
Alpha-N-acetylgalactosaminidase deficiency type 11 test
Alpha-N-acetylgalactosaminidase deficiency type 21 test
Alpha-N-acetylgalactosaminidase deficiency type 31 test
Alpha-thalassemia/intellectual disability syndrome1 test
Angelman syndrome1 test
Arginase deficiency1 test
Argininosuccinate lyase deficiency1 test
Aspartylglucosaminuria1 test
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia1 test
Ataxia-telangiectasia syndrome1 test
Atransferrinemia1 test
Attenuated familial adenomatous polyposis1 test
Autosomal dominant cerebellar ataxia, deafness and narcolepsy1 test
Autosomal dominant optic atrophy classic form1 test
Autosomal recessive nonsyndromic hearing loss 1A1 test
Beckwith-Wiedemann syndrome1 test
Beta-D-mannosidosis1 test
Breast cancer, early-onset3 tests
Breast cancer, familial male3 tests
Breast cancer, susceptibility to2 tests
Breast neoplasm2 tests
Breast-ovarian cancer, familial, susceptibility to, 12 tests
Breast-ovarian cancer, familial, susceptibility to, 22 tests
CHARGE syndrome1 test
Carcinoma of pancreas1 test
Cardiomyopathy and deafness due to tRNA lysine gene mutation1 test
Cardiomyopathy, infantile hypertrophic1 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Ceroid lipofuscinosis, neuronal, 4 (Kufs type)1 test
Ceroid lipofuscinosis, neuronal, 6A1 test
Charcot-Marie-Tooth Neuropathy Type 2H/2K1 test
Charcot-Marie-Tooth Neuropathy X1 test
Charcot-Marie-Tooth disease1 test
Charcot-Marie-Tooth disease X-linked dominant 12 tests
Charcot-Marie-Tooth disease X-linked dominant 61 test
Charcot-Marie-Tooth disease X-linked recessive 41 test
Charcot-Marie-Tooth disease X-linked recessive 51 test
Charcot-Marie-Tooth disease axonal type 2C1 test
Charcot-Marie-Tooth disease axonal type 2F1 test
Charcot-Marie-Tooth disease axonal type 2H1 test
Charcot-Marie-Tooth disease axonal type 2K1 test
Charcot-Marie-Tooth disease axonal type 2L1 test
Charcot-Marie-Tooth disease axonal type 2O1 test
Charcot-Marie-Tooth disease axonal type 2P1 test
Charcot-Marie-Tooth disease axonal type 2S1 test
Charcot-Marie-Tooth disease axonal type 2T1 test
Charcot-Marie-Tooth disease axonal type 2U1 test
Charcot-Marie-Tooth disease dominant intermediate D1 test
Charcot-Marie-Tooth disease type 1B1 test
Charcot-Marie-Tooth disease type 1D1 test
Charcot-Marie-Tooth disease type 21 test
Charcot-Marie-Tooth disease type 2A11 test
Charcot-Marie-Tooth disease type 2A23 tests
Charcot-Marie-Tooth disease type 2B1 test
Charcot-Marie-Tooth disease type 2B21 test
Charcot-Marie-Tooth disease type 2D1 test
Charcot-Marie-Tooth disease type 2E1 test
Charcot-Marie-Tooth disease type 2I1 test
Charcot-Marie-Tooth disease type 2J1 test
Charcot-Marie-Tooth disease type 41 test
Charcot-Marie-Tooth disease type 4A1 test
Charcot-Marie-Tooth disease type 4B11 test
Charcot-Marie-Tooth disease type 4B21 test
Charcot-Marie-Tooth disease type 4C1 test
Charcot-Marie-Tooth disease type 4D1 test
Charcot-Marie-Tooth disease type 4H1 test
Charcot-Marie-Tooth disease type 4J1 test
Charcot-Marie-Tooth disease, type 2A1 test
Charcot-Marie-Tooth disease, type I1 test
Charcot-Marie-Tooth disease, type IA3 tests
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome4 tests
Citrin deficiency1 test
Citrullinemia1 test
Citrullinemia type II1 test
Coffin Siris/Intellectual Disability1 test
Colorectal cancer, hereditary nonpolyposis, type 21 test
Colorectal cancer, susceptibility to, 101 test
Combined PSAP deficiency1 test
Combined deficiency of sialidase AND beta galactosidase1 test
Congenital bilateral aplasia of vas deferens from CFTR mutation1 test
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome1 test
Congenital dyserythropoietic anemia, type I1 test
Congenital dyserythropoietic anemia, type II1 test
Congenital hyperammonemia, type I2 tests
Congenital hypomyelinating neuropathy1 test
Cowden syndrome1 test
Cystic fibrosis1 test
Danon disease1 test
De Lange syndrome1 test
Deficiency of alpha-mannosidase1 test
Deficiency of hyaluronoglucosaminidase1 test
Dejerine-Sottas disease1 test
Disorder of the urea cycle metabolism1 test
Endometrial carcinoma1 test
Epilepsy1 test
Exercise intolerance1 test
Fabry disease1 test
Fabry disease, cardiac variant1 test
Familial adenomatous polyposis 11 test
Familial adenomatous polyposis 21 test
Familial amyloid neuropathy2 tests
Familial cancer of breast1 test
Familial colorectal cancer1 test
Familial medullary thyroid carcinoma1 test
Familial melanoma1 test
Familial pancreatic carcinoma1 test
Familial prostate carcinoma1 test
Familial restrictive cardiomyopathy1 test
Familial visceral amyloidosis, Ostertag type1 test
Farber lipogranulomatosis1 test
Floating-Harbor syndrome1 test
Fragile X syndrome1 test
Fucosidosis1 test
GARS-Associated Axonal Neuropathy1 test
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions1 test
Galactosylceramide beta-galactosidase deficiency1 test
Gardner syndrome1 test
Gaucher disease due to saposin C deficiency1 test
Gaucher disease type I1 test
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome1 test
Generalized juvenile polyposis/juvenile polyposis coli1 test
Genitopatellar syndrome1 test
Glycogen storage disease II, adult form1 test
Gm2-gangliosidosis, adult1 test
Gm2-gangliosidosis, juvenile1 test
Hemochromatosis type 12 tests
Hemochromatosis type 2A1 test
Hemochromatosis type 2B1 test
Hemochromatosis type 31 test
Hemochromatosis type 41 test
Hemochromatosis type 51 test
Hereditary breast ovarian cancer syndrome3 tests
Hereditary diffuse gastric adenocarcinoma1 test
Hereditary hemochromatosis1 test
Hereditary hyperferritinemia with congenital cataracts1 test
Hereditary liability to pressure palsies3 tests
Hereditary nonpolyposis colon cancer1 test
Hereditary sensory and autonomic neuropathy type 12 tests
Hereditary spastic paraplegia 71 test
Hirschsprung disease, susceptibility to, 11 test
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency1 test
Hyperinsulinism-hyperammonemia syndrome1 test
Hyperkalemic periodic paralysis1 test
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome1 test
Hypokalemic periodic paralysis1 test
Inborn mitochondrial myopathy1 test
Infantile onset spinocerebellar ataxia1 test
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke1 test
Juvenile nephropathic cystinosis1 test
Kabuki syndrome1 test
Kearns-Sayre syndrome1 test
Krabbe disease due to saposin A deficiency1 test
Leber optic atrophy2 tests
Leigh syndrome1 test
Li-Fraumeni syndrome2 tests
Lynch syndrome1 test
Lynch syndrome 11 test
Lynch syndrome 41 test
Lynch syndrome 51 test
Lynch syndrome 81 test
Lysinuric protein intolerance1 test
MERFF syndrome1 test
MERRF/MELAS overlap syndrome1 test
Medium-chain acyl-coenzyme A dehydrogenase deficiency1 test
Melanoma, cutaneous malignant, susceptibility to, 21 test
Melanoma, cutaneous malignant, susceptibility to, 31 test
Melanoma-pancreatic cancer syndrome1 test
Metachromatic leukodystrophy1 test
Mismatch repair cancer syndrome 11 test
Mitochondrial DNA Deletion Syndromes1 test
Mitochondrial DNA deletion syndrome with progressive myopathy1 test
Mitochondrial DNA depletion syndrome 11 test
Mitochondrial DNA depletion syndrome 111 test
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant1 test
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive1 test
Mitochondrial DNA depletion syndrome 131 test
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)1 test
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)1 test
Mitochondrial DNA depletion syndrome 4b1 test
Mitochondrial DNA depletion syndrome 8B (MNGIE type)1 test
Mitochondrial DNA depletion syndrome 91 test
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria1 test
Mitochondrial DNA depletion syndrome, myopathic form1 test
Mitochondrial complex IV deficiency, nuclear type 11 test
Mitochondrial disease1 test
Mitochondrial neurogastrointestinal encephalomyopathy1 test
Mitochondrial non-syndromic sensorineural hearing loss1 test
Morquio syndrome1 test
Mucolipidosis type IV1 test
Mucopolysaccharidosis Type I/II1 test
Mucopolysaccharidosis type 11 test
Mucopolysaccharidosis type 61 test
Mucopolysaccharidosis type 71 test
Mucopolysaccharidosis, MPS-I-H/S1 test
Mucopolysaccharidosis, MPS-I-S1 test
Mucopolysaccharidosis, MPS-II1 test
Mucopolysaccharidosis, MPS-III-A1 test
Mucopolysaccharidosis, MPS-III-B1 test
Mucopolysaccharidosis, MPS-III-C1 test
Mucopolysaccharidosis, MPS-III-D1 test
Mucopolysaccharidosis, MPS-IV-A1 test
Mucopolysaccharidosis, MPS-IV-B1 test
Mucopolysaccharidosis, type vi, intermediate1 test
Mucopolysaccharidosis, type vi, mild1 test
Mucopolysaccharidosis, type vi, severe1 test
Muir-Torré syndrome1 test
Multiple endocrine neoplasia type 2A1 test
Multiple endocrine neoplasia type 2B1 test
Multiple endocrine neoplasia, type 11 test
Multiple endocrine neoplasia, type 21 test
Multiple sulfatase deficiency1 test
Myoglobinuria, recurrent1 test
NARP syndrome1 test
Neonatal intrahepatic cholestasis due to citrin deficiency1 test
Neoplasm of stomach1 test
Nephropathic cystinosis1 test
Neuronal ceroid lipofuscinosis1 test
Neuronal ceroid lipofuscinosis 11 test
Neuronal ceroid lipofuscinosis 101 test
Neuronal ceroid lipofuscinosis 111 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
Nicolaides-Baraitser syndrome1 test
Niemann-Pick disease, type A1 test
Niemann-Pick disease, type C1 test
Niemann-Pick disease, type C11 test
Ocular cystinosis1 test
Optic atrophy 31 test
Ornithine carbamoyltransferase deficiency1 test
PTEN hamartoma tumor syndrome1 test
Pancreatic cancer, susceptibility to, 21 test
Pancreatic cancer, susceptibility to, 41 test
Paramyotonia congenita of Von Eulenburg1 test
Parkinson disease, mitochondrial1 test
Perrault syndrome 51 test
Peutz-Jeghers syndrome1 test
Polyposis syndrome, hereditary mixed, 11 test
Prader-Willi syndrome1 test
Primary progressive aphasia1 test
Progressive external ophthalmoplegia1 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 21 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 41 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 31 test
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 41 test
Pyknodysostosis1 test
Retinitis pigmentosa 731 test
Rett syndrome2 tests
Russell-Silver syndrome1 test
Salla disease1 test
Sandhoff disease1 test
Sandhoff disease, adult form1 test
Sandhoff disease, infantile form1 test
Sandhoff disease, juvenile form1 test
Sanfilippo syndrome1 test
Severe congenital hypochromic anemia with ringed sideroblasts1 test
Severe neonatal-onset encephalopathy with microcephaly1 test
Sialic acid storage disease, severe infantile type1 test
Sialidosis1 test
Sialidosis type 11 test
Sideroblastic anemia 21 test
Sotos syndrome1 test
Spinocerebellar ataxia 71 test
Syndromic X-linked intellectual disability Claes-Jensen type1 test
Tay-Sachs disease1 test
Tay-Sachs disease, variant AB1 test
Thrombophilia due to activated protein C resistance1 test
Tubulointerstitial nephritis and uveitis syndrome1 test
Turcot syndrome2 tests
Williams syndrome1 test
Wolman disease1 test
X-linked sideroblastic anemia 11 test