CHEO Genetics Diagnostic Laboratory (Children's Hospital of Eastern Ontario)

General information

CHEO Genetics Diagnostic Laboratory
Children's Hospital of Eastern Ontario
401 Smyth Road
Ottawa
Ontario
Canada - K1H 8L1
https://www.cheo.on.ca/en/clinics-services-programs/genetics-diagnostic-laboratory.aspx
Organization ID: 1050

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 5533

Gene

GeneSubmissionsLast Updated
ABCC962Dec 23, 2021
ACTA217Dec 23, 2021
ACTA2-AS16Dec 23, 2021
ACTC126Dec 23, 2021
ACTN2108Dec 23, 2021
ANKRD115Dec 23, 2021
ATM108Dec 23, 2021
BRCA1142Dec 23, 2021
BRCA2261Dec 23, 2021
BRIP123Dec 23, 2021
C11orf6536Dec 23, 2021
CASQ228Dec 23, 2021
CAV325Dec 23, 2021
CDH136Dec 23, 2021
CEP85L11Dec 23, 2021
CHEK229Dec 23, 2021
COL3A149Dec 23, 2021
CRYAB7Mar 3, 2020
CSRP338Dec 23, 2021
CSRP3-AS11Apr 30, 2018
CTF110Dec 23, 2021
DES28Dec 23, 2021
DNAAF32Mar 3, 2020
DNASE1L11Apr 30, 2018
DSC248Dec 23, 2021
DSCAS4Dec 23, 2021
DSG259Dec 23, 2021
DSG2-AS124Dec 23, 2021
DSP119Dec 23, 2021
DSP-AS14Dec 23, 2021
EMD11Dec 23, 2021
FBN1231Dec 23, 2021
FHL215Mar 3, 2020
GJD2-DT26Dec 23, 2021
GLA16Dec 23, 2021
JUP33Dec 23, 2021
LAMA470Dec 23, 2021
LAMP216Dec 23, 2021
LDB372Dec 23, 2021
LMNA47Dec 23, 2021
LOC10192705527Dec 23, 2021
LOC1101214864Dec 23, 2021
LOC1139399445Dec 23, 2021
LOC1148278507Dec 23, 2021
LOC11482785118Dec 23, 2021
MHRT40Dec 23, 2021
MLH118Dec 23, 2021
MSH226Dec 23, 2021
MSH634Dec 23, 2021
MYBPC3319Dec 23, 2021
MYH11119Dec 23, 2021
MYH6133Dec 23, 2021
MYH7258Dec 23, 2021
MYL233Dec 23, 2021
MYL325Dec 23, 2021
MYLK101Dec 23, 2021
MYLK-AS110Dec 23, 2021
MYLK235Dec 23, 2021
MYOZ220Dec 23, 2021
NDE157Dec 23, 2021
NEXN75Dec 23, 2021
NOTCH1174Dec 23, 2021
PALB231Dec 23, 2021
PKP270Dec 23, 2021
PLN11Dec 23, 2021
PMS241Dec 23, 2021
PRKAG258Dec 23, 2021
PTEN7Dec 23, 2021
RAD51C15Dec 23, 2021
RAD51D11Dec 23, 2021
RAD51L3-RFFL11Dec 23, 2021
RBM2086Dec 23, 2021
RPL36A-HNRNPH216Dec 23, 2021
RYR2159Dec 23, 2021
SGCD11Dec 23, 2021
SLC2A1029Dec 23, 2021
SMAD334Dec 23, 2021
SMAD49Dec 23, 2021
SSUH23Dec 23, 2021
STK1116Dec 23, 2021
TAFAZZIN6Apr 30, 2018
TCAP12Dec 23, 2021
TGFB220Dec 23, 2021
TGFB313Dec 23, 2021
TGFBR132Dec 23, 2021
TGFBR230Dec 23, 2021
TMEM4326Dec 23, 2021
TNNC122Dec 23, 2021
TNNI341Dec 23, 2021
TNNT11Apr 30, 2018
TNNT264Dec 23, 2021
TP5317Dec 23, 2021
TPM131Dec 23, 2021
TTN1441Dec 23, 2021
TTN-AS1839Dec 23, 2021
TTR21Dec 23, 2021
VANGL12Apr 30, 2018
VCL50Dec 23, 2021

Testing in GTR

Disease nameNumber of tests
Angelman syndrome1 test
Arrhythmogenic right ventricular cardiomyopathy2 tests
Arterial tortuosity syndrome2 tests
Breast-ovarian cancer, familial 14 tests
Breast-ovarian cancer, familial 24 tests
Cardiomyopathy1 test
Facioscapulohumeral muscular dystrophy 11 test
Fragile X syndrome1 test
Hereditary breast and ovarian cancer syndrome1 test
Hereditary hemochromatosis1 test
Hypertrophic cardiomyopathy2 tests
Loeys-Dietz syndrome2 tests
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections2 tests
Marfan syndrome2 tests
Myotonic dystrophy type 21 test
Oculopharyngeal muscular dystrophy1 test
Prader-Willi syndrome1 test
Spinal muscular atrophy1 test
Steinert myotonic dystrophy syndrome1 test
Thrombophilia due to thrombin defect1 test
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