Molecular Genetics Laboratory (London Health Sciences Centre), 21463
General information
Molecular Genetics Laboratory, 21463
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
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
- Jennifer Kerkhof, Informatics staff
Phone: 519-685-8500 X52236
Email: jennifer.kerkhof@lhsc.on.ca - Brent Saylor, Informatics staff
Phone: 519-685-8500
Email: Brent.Saylor@lhsc.on.ca - Laila Schenkel, Lab Director
Phone: 519-685-8500 X75586
Email: Laila.Schenkel@lhsc.on.ca
Assertion criteria
Level: Assertion criteria provided
Summary of submissions to ClinVar
Total submissions: 1915
Gene
Gene | Submissions | Last Updated |
---|---|---|
AARS1 | 24 | Feb 5, 2020 |
AIFM1 | 19 | Apr 7, 2020 |
DNAJB2 | 21 | Apr 7, 2020 |
DYNC1H1 | 166 | Apr 7, 2020 |
EGR2 | 19 | Apr 7, 2020 |
FGD4 | 35 | Apr 7, 2020 |
FIG4 | 71 | Aug 26, 2024 |
GARS1 | 46 | Apr 7, 2020 |
GDAP1 | 30 | Apr 7, 2020 |
GJB1 | 21 | Apr 7, 2020 |
HSPB1 | 34 | Aug 26, 2024 |
IGHMBP2 | 125 | Aug 26, 2024 |
KIF1B | 109 | Apr 7, 2020 |
KMT2D | 1 | May 13, 2019 |
LITAF | 20 | Apr 7, 2020 |
LMNA | 59 | Aug 26, 2024 |
LOC101928008 | 21 | Apr 7, 2020 |
LOC105369149 | 21 | Apr 7, 2020 |
LOC112872299 | 1 | Apr 7, 2020 |
LOC126805614 | 4 | Apr 7, 2020 |
LOC126805877 | 2 | Apr 7, 2020 |
LOC126860330 | 3 | Apr 7, 2020 |
LOC126860531 | 9 | Apr 7, 2020 |
LOC126861245 | 9 | Apr 7, 2020 |
LOC126862060 | 5 | Apr 7, 2020 |
LOC129388446 | 2 | Apr 7, 2020 |
LOC129929426 | 1 | Apr 7, 2020 |
LOC129931597 | 1 | Apr 7, 2020 |
LOC130000622 | 8 | Apr 7, 2020 |
LOC130064454 | 6 | Apr 7, 2020 |
LOC130068679 | 1 | Apr 7, 2020 |
LRSAM1 | 68 | Apr 7, 2020 |
MARS1 | 61 | Apr 7, 2020 |
MED25 | 71 | Nov 7, 2024 |
MFN2 | 83 | Apr 7, 2020 |
MIR6800 | 1 | Apr 7, 2020 |
MIR6841 | 2 | Apr 7, 2020 |
MPZ | 44 | Apr 7, 2020 |
MTMR2 | 37 | Apr 7, 2020 |
NDRG1 | 50 | Apr 7, 2020 |
NEFL | 47 | Apr 7, 2020 |
PDK3 | 10 | Apr 7, 2020 |
PLD3 | 2 | Apr 7, 2020 |
PMP22 | 29 | Apr 7, 2020 |
PRX | 172 | Apr 7, 2020 |
RAB33A | 19 | Apr 7, 2020 |
RAB7A | 10 | Apr 7, 2020 |
SBF2 | 108 | Apr 7, 2020 |
SBF2-AS1 | 30 | Apr 7, 2020 |
SH3TC2 | 151 | Oct 21, 2024 |
SPTLC1 | 32 | Apr 7, 2020 |
TRPV4 | 113 | Apr 7, 2020 |
TTR | 29 | Apr 7, 2020 |
Condition
Name | Submissions | Last Updated |
---|---|---|
Charcot-Marie-Tooth disease | 1913 | Nov 7, 2024 |
Charcot-Marie-Tooth disease type 2B1 | 1 | Aug 26, 2024 |
Kabuki syndrome 1 | 1 | May 13, 2019 |
Testing in GTR
Disease name | Number of tests |
---|---|
3-Methylglutaconic aciduria type 3 | 1 test |
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder | 1 test |
Acquired polycythemia vera | 1 test |
Alpha mannosidosis type II | 1 test |
Alpha thalassemia-X-linked intellectual disability syndrome | 1 test |
Alpha-N-acetylgalactosaminidase deficiency type 1 | 1 test |
Alpha-N-acetylgalactosaminidase deficiency type 2 | 1 test |
Alpha-N-acetylgalactosaminidase deficiency type 3 | 1 test |
Alpha-thalassemia/intellectual disability syndrome | 1 test |
Amyloidosis, hereditary systemic 1 | 2 tests |
Angelman syndrome | 1 test |
Arginase deficiency | 1 test |
Argininosuccinate lyase deficiency | 1 test |
Aspartylglucosaminuria | 1 test |
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | 1 test |
Ataxia-telangiectasia syndrome | 1 test |
Atransferrinemia | 1 test |
Attenuated familial adenomatous polyposis | 1 test |
Autosomal dominant cerebellar ataxia, deafness and narcolepsy | 1 test |
Autosomal dominant optic atrophy classic form | 1 test |
Autosomal recessive nonsyndromic hearing loss 1A | 1 test |
Beckwith-Wiedemann syndrome | 1 test |
Beta-D-mannosidosis | 1 test |
Breast cancer, early-onset | 3 tests |
Breast cancer, familial male | 3 tests |
Breast cancer, susceptibility to | 2 tests |
Breast neoplasm | 2 tests |
Breast-ovarian cancer, familial, susceptibility to, 1 | 2 tests |
Breast-ovarian cancer, familial, susceptibility to, 2 | 2 tests |
CHARGE syndrome | 1 test |
Carcinoma of pancreas | 1 test |
Cardiomyopathy and deafness due to tRNA lysine gene mutation | 1 test |
Cardiomyopathy, infantile hypertrophic | 1 test |
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy | 1 test |
Ceroid lipofuscinosis, neuronal, 4 (Kufs type) | 1 test |
Ceroid lipofuscinosis, neuronal, 6A | 1 test |
Charcot-Marie-Tooth Neuropathy Type 2H/2K | 1 test |
Charcot-Marie-Tooth Neuropathy X | 1 test |
Charcot-Marie-Tooth disease | 1 test |
Charcot-Marie-Tooth disease X-linked dominant 1 | 2 tests |
Charcot-Marie-Tooth disease X-linked dominant 6 | 1 test |
Charcot-Marie-Tooth disease X-linked recessive 4 | 1 test |
Charcot-Marie-Tooth disease X-linked recessive 5 | 1 test |
Charcot-Marie-Tooth disease axonal type 2C | 1 test |
Charcot-Marie-Tooth disease axonal type 2F | 1 test |
Charcot-Marie-Tooth disease axonal type 2H | 1 test |
Charcot-Marie-Tooth disease axonal type 2K | 1 test |
Charcot-Marie-Tooth disease axonal type 2L | 1 test |
Charcot-Marie-Tooth disease axonal type 2O | 1 test |
Charcot-Marie-Tooth disease axonal type 2P | 1 test |
Charcot-Marie-Tooth disease axonal type 2S | 1 test |
Charcot-Marie-Tooth disease axonal type 2T | 1 test |
Charcot-Marie-Tooth disease axonal type 2U | 1 test |
Charcot-Marie-Tooth disease dominant intermediate D | 1 test |
Charcot-Marie-Tooth disease type 1B | 1 test |
Charcot-Marie-Tooth disease type 1D | 1 test |
Charcot-Marie-Tooth disease type 2 | 1 test |
Charcot-Marie-Tooth disease type 2A1 | 1 test |
Charcot-Marie-Tooth disease type 2A2 | 3 tests |
Charcot-Marie-Tooth disease type 2B | 1 test |
Charcot-Marie-Tooth disease type 2B2 | 1 test |
Charcot-Marie-Tooth disease type 2D | 1 test |
Charcot-Marie-Tooth disease type 2E | 1 test |
Charcot-Marie-Tooth disease type 2I | 1 test |
Charcot-Marie-Tooth disease type 2J | 1 test |
Charcot-Marie-Tooth disease type 4 | 1 test |
Charcot-Marie-Tooth disease type 4A | 1 test |
Charcot-Marie-Tooth disease type 4B1 | 1 test |
Charcot-Marie-Tooth disease type 4B2 | 1 test |
Charcot-Marie-Tooth disease type 4C | 1 test |
Charcot-Marie-Tooth disease type 4D | 1 test |
Charcot-Marie-Tooth disease type 4H | 1 test |
Charcot-Marie-Tooth disease type 4J | 1 test |
Charcot-Marie-Tooth disease, type 2A | 1 test |
Charcot-Marie-Tooth disease, type I | 1 test |
Charcot-Marie-Tooth disease, type IA | 3 tests |
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome | 4 tests |
Citrin deficiency | 1 test |
Citrullinemia | 1 test |
Citrullinemia type II | 1 test |
Coffin Siris/Intellectual Disability | 1 test |
Colorectal cancer, hereditary nonpolyposis, type 2 | 1 test |
Colorectal cancer, susceptibility to, 10 | 1 test |
Combined PSAP deficiency | 1 test |
Combined deficiency of sialidase AND beta galactosidase | 1 test |
Congenital bilateral aplasia of vas deferens from CFTR mutation | 1 test |
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome | 1 test |
Congenital dyserythropoietic anemia, type I | 1 test |
Congenital dyserythropoietic anemia, type II | 1 test |
Congenital hyperammonemia, type I | 2 tests |
Congenital hypomyelinating neuropathy | 1 test |
Cowden syndrome | 1 test |
Cystic fibrosis | 1 test |
Danon disease | 1 test |
De Lange syndrome | 1 test |
Deficiency of alpha-mannosidase | 1 test |
Deficiency of hyaluronoglucosaminidase | 1 test |
Dejerine-Sottas disease | 1 test |
Disorder of the urea cycle metabolism | 1 test |
Endometrial carcinoma | 1 test |
Epilepsy | 1 test |
Exercise intolerance | 1 test |
Fabry disease | 1 test |
Fabry disease, cardiac variant | 1 test |
Familial adenomatous polyposis 1 | 1 test |
Familial adenomatous polyposis 2 | 1 test |
Familial cancer of breast | 1 test |
Familial colorectal cancer | 1 test |
Familial hyperkalemic periodic paralysis | 1 test |
Familial medullary thyroid carcinoma | 1 test |
Familial melanoma | 1 test |
Familial pancreatic carcinoma | 1 test |
Familial prostate cancer | 1 test |
Familial restrictive cardiomyopathy | 1 test |
Familial visceral amyloidosis, Ostertag type | 1 test |
Farber lipogranulomatosis | 1 test |
Floating-Harbor syndrome | 1 test |
Fragile X syndrome | 1 test |
Fucosidosis | 1 test |
GARS-Associated Axonal Neuropathy | 1 test |
GLYCOGEN STORAGE DISEASE II, ADULT FORM | 1 test |
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions | 1 test |
Galactosylceramide beta-galactosidase deficiency | 1 test |
Gardner syndrome | 1 test |
Gaucher disease due to saposin C deficiency | 1 test |
Gaucher disease type I | 1 test |
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 1 test |
Generalized juvenile polyposis/juvenile polyposis coli | 1 test |
Genitopatellar syndrome | 1 test |
Gm2-gangliosidosis, adult | 1 test |
Gm2-gangliosidosis, juvenile | 1 test |
Hemochromatosis type 1 | 2 tests |
Hemochromatosis type 2A | 1 test |
Hemochromatosis type 2B | 1 test |
Hemochromatosis type 3 | 1 test |
Hemochromatosis type 4 | 1 test |
Hemochromatosis type 5 | 1 test |
Hereditary breast ovarian cancer syndrome | 3 tests |
Hereditary diffuse gastric adenocarcinoma | 1 test |
Hereditary hemochromatosis | 1 test |
Hereditary hyperferritinemia with congenital cataracts | 1 test |
Hereditary liability to pressure palsies | 3 tests |
Hereditary nonpolyposis colon cancer | 1 test |
Hereditary sensory and autonomic neuropathy type 1 | 2 tests |
Hereditary spastic paraplegia 7 | 1 test |
Hirschsprung disease, susceptibility to, 1 | 1 test |
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency | 1 test |
Hyperinsulinism-hyperammonemia syndrome | 1 test |
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome | 1 test |
Hypokalemic periodic paralysis | 1 test |
Inborn mitochondrial myopathy | 1 test |
Infantile onset spinocerebellar ataxia | 1 test |
Juvenile nephropathic cystinosis | 1 test |
Kabuki syndrome | 1 test |
Kearns-Sayre syndrome | 1 test |
Krabbe disease due to saposin A deficiency | 1 test |
Leber optic atrophy | 2 tests |
Leigh syndrome | 1 test |
Li-Fraumeni syndrome | 2 tests |
Lynch syndrome | 1 test |
Lynch syndrome 1 | 1 test |
Lynch syndrome 4 | 1 test |
Lynch syndrome 5 | 1 test |
Lynch syndrome 8 | 1 test |
Lysinuric protein intolerance | 1 test |
MELAS syndrome | 1 test |
MERFF syndrome | 1 test |
MERRF/MELAS overlap syndrome | 1 test |
Medium-chain acyl-coenzyme A dehydrogenase deficiency | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 2 | 1 test |
Melanoma, cutaneous malignant, susceptibility to, 3 | 1 test |
Melanoma-pancreatic cancer syndrome | 1 test |
Metachromatic leukodystrophy | 1 test |
Mismatch repair cancer syndrome 1 | 1 test |
Mitochondrial DNA Deletion Syndromes | 1 test |
Mitochondrial DNA deletion syndrome with progressive myopathy | 1 test |
Mitochondrial DNA depletion syndrome 1 | 1 test |
Mitochondrial DNA depletion syndrome 11 | 1 test |
Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant | 1 test |
Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive | 1 test |
Mitochondrial DNA depletion syndrome 13 | 1 test |
Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) | 1 test |
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | 1 test |
Mitochondrial DNA depletion syndrome 4b | 1 test |
Mitochondrial DNA depletion syndrome 8B (MNGIE type) | 1 test |
Mitochondrial DNA depletion syndrome 9 | 1 test |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | 1 test |
Mitochondrial DNA depletion syndrome, myopathic form | 1 test |
Mitochondrial complex IV deficiency, nuclear type 1 | 1 test |
Mitochondrial disease | 1 test |
Mitochondrial neurogastrointestinal encephalomyopathy | 1 test |
Mitochondrial non-syndromic sensorineural hearing loss | 1 test |
Morquio syndrome | 1 test |
Mucolipidosis type IV | 1 test |
Mucopolysaccharidosis Type I/II | 1 test |
Mucopolysaccharidosis type 1 | 1 test |
Mucopolysaccharidosis type 6 | 1 test |
Mucopolysaccharidosis type 7 | 1 test |
Mucopolysaccharidosis, MPS-I-H/S | 1 test |
Mucopolysaccharidosis, MPS-I-S | 1 test |
Mucopolysaccharidosis, MPS-II | 1 test |
Mucopolysaccharidosis, MPS-III-A | 1 test |
Mucopolysaccharidosis, MPS-III-B | 1 test |
Mucopolysaccharidosis, MPS-III-C | 1 test |
Mucopolysaccharidosis, MPS-III-D | 1 test |
Mucopolysaccharidosis, MPS-IV-A | 1 test |
Mucopolysaccharidosis, MPS-IV-B | 1 test |
Mucopolysaccharidosis, type vi, intermediate | 1 test |
Mucopolysaccharidosis, type vi, mild | 1 test |
Mucopolysaccharidosis, type vi, severe | 1 test |
Muir-Torré syndrome | 1 test |
Multiple endocrine neoplasia type 2A | 1 test |
Multiple endocrine neoplasia type 2B | 1 test |
Multiple endocrine neoplasia, type 1 | 1 test |
Multiple endocrine neoplasia, type 2 | 1 test |
Multiple sulfatase deficiency | 1 test |
Myoglobinuria, recurrent | 1 test |
NARP syndrome | 1 test |
Neonatal intrahepatic cholestasis due to citrin deficiency | 1 test |
Neoplasm of stomach | 1 test |
Nephropathic cystinosis | 1 test |
Neuronal ceroid lipofuscinosis | 1 test |
Neuronal ceroid lipofuscinosis 1 | 1 test |
Neuronal ceroid lipofuscinosis 10 | 1 test |
Neuronal ceroid lipofuscinosis 11 | 1 test |
Neuronal ceroid lipofuscinosis 2 | 1 test |
Neuronal ceroid lipofuscinosis 3 | 1 test |
Neuronal ceroid lipofuscinosis 5 | 1 test |
Neuronal ceroid lipofuscinosis 7 | 1 test |
Neuronal ceroid lipofuscinosis 8 | 1 test |
Nicolaides-Baraitser syndrome | 1 test |
Niemann-Pick disease, type A | 1 test |
Niemann-Pick disease, type C | 1 test |
Niemann-Pick disease, type C1 | 1 test |
Ocular cystinosis | 1 test |
Optic atrophy 3 | 1 test |
Ornithine carbamoyltransferase deficiency | 1 test |
PTEN hamartoma tumor syndrome | 1 test |
Pancreatic cancer, susceptibility to, 2 | 1 test |
Pancreatic cancer, susceptibility to, 4 | 1 test |
Paramyotonia congenita of Von Eulenburg | 1 test |
Parkinson disease, mitochondrial | 1 test |
Perrault syndrome 5 | 1 test |
Peutz-Jeghers syndrome | 1 test |
Polyposis syndrome, hereditary mixed, 1 | 1 test |
Prader-Willi syndrome | 1 test |
Primary progressive aphasia | 1 test |
Progressive external ophthalmoplegia | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | 1 test |
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | 1 test |
Pyknodysostosis | 1 test |
Retinitis pigmentosa 73 | 1 test |
Rett syndrome | 2 tests |
Russell-Silver syndrome | 1 test |
Salla disease | 1 test |
Sandhoff disease | 1 test |
Sandhoff disease, adult form | 1 test |
Sandhoff disease, infantile form | 1 test |
Sandhoff disease, juvenile form | 1 test |
Sanfilippo syndrome | 1 test |
Severe congenital hypochromic anemia with ringed sideroblasts | 1 test |
Severe neonatal-onset encephalopathy with microcephaly | 1 test |
Sialic acid storage disease, severe infantile type | 1 test |
Sialidosis | 1 test |
Sialidosis type 1 | 1 test |
Sideroblastic anemia 2 | 1 test |
Sotos syndrome | 1 test |
Spinocerebellar ataxia 7 | 1 test |
Syndromic X-linked intellectual disability Claes-Jensen type | 1 test |
Tay-Sachs disease | 1 test |
Tay-Sachs disease, variant AB | 1 test |
Thrombophilia due to activated protein C resistance | 1 test |
Tubulointerstitial nephritis and uveitis syndrome | 1 test |
Turcot syndrome | 2 tests |
Williams syndrome | 1 test |
Wolman disease | 1 test |
X-linked sideroblastic anemia 1 | 1 test |