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Genome Diagnostics Laboratory (Hospital For Sick Children)

General information

Genome Diagnostics Laboratory
Hospital For Sick Children
555 University Ave
Toronto
Ontario
Canada - M5G 1X8
https://www.sickkids.ca/en/care-services/for-health-care-providers/lab-testing-services/
Organization ID: 1043

Personnel

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 7612

Gene

GeneSubmissionsLast Updated
ACTN426Oct 28, 2022
ADA245Jul 7, 2022
ADAMTS273Aug 23, 2022
ALDH18A127Mar 15, 2022
ALPL29Dec 10, 2025
ALS239Mar 15, 2022
AP3B137Jul 7, 2022
AP4B125Mar 15, 2022
AP4B1-AS119Mar 15, 2022
AP4E130Mar 15, 2022
AP4M125Mar 15, 2022
AP4S16Mar 15, 2022
AP5Z1104Mar 15, 2022
ARSL15Aug 23, 2022
ATL118Mar 15, 2022
ATP7A26Aug 23, 2022
AXDND14Oct 28, 2022
B4GALT714Dec 10, 2025
BLOC1S62Jul 7, 2022
BMP125Aug 23, 2022
BRAF48Jan 11, 2022
BSCL222Mar 15, 2022
C19orf1210Mar 15, 2022
C214Oct 28, 2022
C331Oct 28, 2022
CARD14141Jul 7, 2022
CBL66Jan 11, 2022
CBS12Mar 21, 2023
CD276Jul 7, 2022
CD27-AS16Jul 7, 2022
CD2AP11Oct 28, 2022
CD4611Oct 28, 2022
CEP29017Oct 28, 2022
CFB21Oct 28, 2022
CFH40Oct 28, 2022
CFHR11Oct 28, 2022
CFHR25Oct 28, 2022
CFHR33Oct 28, 2022
CFHR44Oct 28, 2022
CFHR519Oct 28, 2022
CFI22Oct 28, 2022
CFTR167May 10, 2022
CFTR-AS118May 10, 2022
CFTR-AS247May 10, 2022
CHST147Aug 23, 2022
CLCN713Dec 10, 2025
CNNM25Mar 15, 2022
COL11A124Aug 23, 2022
COL11A228Aug 23, 2022
COL1A1179Aug 23, 2022
COL1A286Aug 23, 2022
COL2A151Aug 23, 2022
COL3A156Aug 23, 2022
COL4A321Oct 28, 2022
COL4A432Oct 28, 2022
COL4A511Oct 28, 2022
COL5A1120Aug 23, 2022
COL5A255Aug 23, 2022
COL9A115Aug 23, 2022
COL9A221Aug 23, 2022
COL9A329Aug 23, 2022
COMP13Aug 23, 2022
COQ26Oct 28, 2022
COQ8B6Oct 28, 2022
CRTAP17Aug 23, 2022
CYLD-AS16Jul 7, 2022
CYP21A21Aug 23, 2022
CYP2U129Mar 15, 2022
CYP2U1-AS17Mar 15, 2022
CYP7B125Sep 25, 2024
DCLRE1B2Mar 15, 2022
DDHD128Mar 15, 2022
DDHD225Mar 15, 2022
DDR29Aug 23, 2022
DGKE8Oct 28, 2022
DNAJB71Oct 28, 2022
DSE16Aug 23, 2022
DYM8Aug 23, 2022
DYM-AS11Aug 23, 2022
EBP4Aug 23, 2022
EIF2AK312Aug 23, 2022
EIF2AK3-AS12Aug 23, 2022
ELANE38Jul 7, 2022
ENTPD121Mar 15, 2022
ENTPD1-AS121Mar 15, 2022
ERLIN110Mar 15, 2022
ERLIN28Mar 15, 2022
EVI2A1Feb 11, 2021
EZH21Sep 6, 2023
FA2H25Mar 15, 2022
FANCI4Mar 15, 2022
FBN141Aug 23, 2022
FBN2164Aug 23, 2022
FGFR324Aug 23, 2022
FKBP1018Aug 23, 2022
FKBP147Aug 23, 2022
FKBP14-AS17Aug 23, 2022
FLNB61Aug 23, 2022
FRA11B2Jan 11, 2022
GBA225Mar 15, 2022
GJC219Mar 15, 2022
GLIS26Oct 28, 2022
HNRNPUL2-BSCL222Mar 15, 2022
HRAS24Jan 11, 2022
HSPD121Mar 15, 2022
HSPG2101Aug 23, 2022
IFITM510Aug 23, 2022
IFT12222Aug 23, 2022
IFT434Aug 23, 2022
IFT8015Aug 23, 2022
IL1RN25Jul 7, 2022
IL36RN22Jul 7, 2022
INCA120Mar 15, 2022
INF229Oct 28, 2022
INVS7Oct 28, 2022
ITK17Jul 7, 2022
KIF1A93Sep 25, 2024
KIF1C62Mar 15, 2022
KIF1C-AS11Mar 15, 2022
KIF5A38Mar 15, 2022
KIRREL26Oct 28, 2022
KRAS12Sep 25, 2024
L1CAM27Sep 15, 2022
LAMB224Oct 28, 2022
LBR16Aug 23, 2022
LDLRAD28Aug 23, 2022
LIFR27Aug 23, 2022
LMX1B6Oct 28, 2022
LOC10144820226Aug 23, 2022
LOC10678080317Aug 23, 2022
LOC1075481121Oct 28, 2022
LOC1076524452Aug 23, 2022
LOC1079822342Oct 28, 2022
LOC1080218462Aug 23, 2022
LOC11167447225May 10, 2022
LOC1116744756May 10, 2022
LOC1116744778May 10, 2022
LOC1118119655Feb 11, 2021
LOC1125336726Jul 7, 2022
LOC1129975404Oct 28, 2022
LOC1136641064May 10, 2022
LOC1137882693Aug 23, 2022
LOC1235228036Jul 7, 2022
LOC1268056555Aug 23, 2022
LOC1268065834Mar 15, 2022
LOC1268068101Aug 23, 2022
LOC12680750111Aug 23, 2022
LOC1268075562Aug 23, 2022
LOC1268602022Jan 11, 2022
LOC1268604985Mar 15, 2022
LOC1268607821Mar 15, 2022
LOC1268617521Dec 10, 2025
LOC1268617531Dec 10, 2025
LOC12686226420Jul 7, 2022
LOC1268624723Mar 15, 2022
LOC1268624737Mar 15, 2022
LOC12686258612Aug 23, 2022
LOC12686266214Jul 7, 2022
LOC1268630846Aug 23, 2022
LOC1268631371Oct 28, 2022
LOC1268632121Aug 23, 2022
LOC1293891442Aug 23, 2022
LOC1299312352Mar 15, 2022
LOC1299324052Oct 28, 2022
LOC1299335352Jan 11, 2022
LOC1299353321Mar 15, 2022
LOC1299357302Oct 28, 2022
LOC1299364363Aug 23, 2022
LOC1299369352Aug 23, 2022
LOC1299375863Oct 28, 2022
LOC1299929292Mar 15, 2022
LOC1299954001Dec 10, 2025
LOC1299978612Mar 15, 2022
LOC1299978641Mar 15, 2022
LOC1299999761Aug 23, 2022
LOC1300005071Mar 15, 2022
LOC1300022231Aug 23, 2022
LOC1300022511Oct 28, 2022
LOC1300050461Aug 23, 2022
LOC1300068945Jan 11, 2022
LOC1300068954Jan 11, 2022
LOC1300072331Jul 7, 2022
LOC1300072421Jul 7, 2022
LOC1300075612Jan 11, 2022
LOC1300093663Mar 15, 2022
LOC1300096622Dec 10, 2025
LOC1300553231Jul 7, 2022
LOC1300555881Jan 11, 2022
LOC1300565191Mar 15, 2022
LOC1300567097Mar 15, 2022
LOC1300573521Aug 23, 2022
LOC1300576511Sep 15, 2022
LOC1300593942Mar 15, 2022
LOC1300597191Aug 23, 2022
LOC1300598186Mar 15, 2022
LOC1300598914Aug 23, 2022
LOC1300598921Aug 23, 2022
LOC1300611601Aug 23, 2022
LOC1300631931Jan 11, 2022
LOC1300633771Mar 15, 2022
LOC1300647022Mar 15, 2022
LOC1300670163Jan 11, 2022
LPIN283Sep 25, 2024
LRP578Dec 10, 2025
LRRC5624Jan 11, 2022
LYST84Jul 7, 2022
LZTR143Sep 25, 2024
MAP2K123Jan 11, 2022
MAP2K234Jan 11, 2022
MATN312Aug 23, 2022
MBTPS24Aug 23, 2022
MCAM1Jan 11, 2022
MCOLN13Mar 15, 2022
MEFV115Jul 7, 2022
MFF-DT19Oct 28, 2022
MILR114Mar 15, 2022
MIR46561Mar 15, 2022
MIR4733HG5Feb 11, 2021
MIR67661Mar 15, 2022
MKRN21Jan 11, 2022
MMAB1Jul 7, 2022
MTRFR11Mar 15, 2022
MVK38Jul 7, 2022
MYH918Oct 28, 2022
MYO1E6Oct 28, 2022
NEK119Aug 23, 2022
NEK83Oct 28, 2022
NF1396Sep 25, 2024
NIPA115Mar 15, 2022
NKX3-211Aug 23, 2022
NLRC471Jul 7, 2022
NLRP12137Jul 7, 2022
NLRP379Oct 28, 2022
NOC3L1Oct 28, 2022
NOD2124Jul 7, 2022
NPHP14Oct 28, 2022
NPHP321Oct 28, 2022
NPHP3-ACAD1121Oct 28, 2022
NPHP3-AS13Oct 28, 2022
NPHP428Oct 28, 2022
NPHS151Dec 10, 2025
NPHS216Dec 10, 2025
NRAS11Jan 11, 2022
NSDHL7Aug 23, 2022
NT5C29Mar 15, 2022
OFD12Aug 23, 2022
P3H128Aug 23, 2022
PALD11Jul 7, 2022
PDSS27Oct 28, 2022
PEX76Aug 23, 2022
PGAP131Mar 15, 2022
PGGHG1Aug 23, 2022
PLA2R112Oct 28, 2022
PLCE125Oct 28, 2022
PLCE1-AS12Oct 28, 2022
PLEKHM11Dec 10, 2025
PLOD135Aug 23, 2022
PLOD217Aug 23, 2022
PLP15Mar 15, 2022
PLS37Aug 23, 2022
PNPLA654Dec 10, 2025
POLG63Mar 15, 2022
POLG214Mar 15, 2022
POLGARF63Mar 15, 2022
PPIB7Aug 23, 2022
PRDM531Aug 23, 2022
PRF146Jul 7, 2022
PSMB830Jul 7, 2022
PSTPIP172Sep 15, 2022
PTH1R13Aug 23, 2022
PTPN1163Sep 25, 2024
RAB27A29Jul 7, 2022
RAB9B5Mar 15, 2022
RAF135Jan 11, 2022
REEP118Mar 15, 2022
REG1A2Oct 28, 2022
REN7Oct 28, 2022
RIT121Sep 25, 2024
RPGRIP1L10Oct 28, 2022
RTN219Mar 15, 2022
SACS154Dec 10, 2025
SCARB23Oct 28, 2022
SCNN1A1Jul 7, 2022
SDCCAG88Oct 28, 2022
SERPINF119Aug 23, 2022
SERPINH18Aug 23, 2022
SETX69Mar 15, 2022
SGSH50Jul 7, 2022
SH2D1A6Jul 7, 2022
SHOC223Jan 11, 2022
SHOX7Aug 23, 2022
SLC16A29Mar 15, 2022
SLC26A217Aug 23, 2022
SLC30A61Jul 7, 2022
SLC33A111Mar 15, 2022
SLC35D16Aug 23, 2022
SLC39A1322Aug 23, 2022
SLC39A13-AS11Aug 23, 2022
SLC7A717Jul 7, 2022
SMAD319Aug 23, 2022
SMARCA41Sep 6, 2023
SMARCAL116Oct 28, 2022
SNAPC54Jan 11, 2022
SNX222Aug 23, 2022
SOS168Jan 11, 2022
SOS226Jan 11, 2022
SOX913Aug 23, 2022
SP79Aug 23, 2022
SPARC8Aug 23, 2022
SPART18Mar 15, 2022
SPAST72Mar 15, 2022
SPG11122Mar 15, 2022
SPG2118Mar 15, 2022
SPG768Mar 15, 2022
SPRED143Jan 11, 2022
STING143Jul 7, 2022
STX1111Jul 7, 2022
STXBP236Jul 7, 2022
TCIRG13Dec 10, 2025
TECPR272Mar 15, 2022
TGFB215Aug 23, 2022
TGFBR119Aug 23, 2022
TGFBR217Feb 15, 2024
THBD11Oct 28, 2022
TMEM38B8Aug 23, 2022
TMEM675Oct 28, 2022
TNFRSF11A3Dec 10, 2025
TNFRSF11B1Aug 23, 2022
TNFRSF1A45Sep 15, 2022
TNFSF116Dec 10, 2025
TNXB210Aug 23, 2022
TRAPPC22Aug 23, 2022
TRIM59-IFT8015Aug 23, 2022
TRIP1147Aug 23, 2022
TRPC618Oct 28, 2022
TRPV426Aug 23, 2022
TTC21B24Aug 23, 2022
TTC21B-AS12Aug 23, 2022
TWNK20Mar 15, 2022
UMOD11Oct 28, 2022
UNC13D79Jul 7, 2022
VPS37A16Mar 15, 2022
WASHC543Mar 15, 2022
WASHC5-AS14Mar 15, 2022
WDR1924Aug 23, 2022
WDR3513Aug 23, 2022
WDR35-DT4Aug 23, 2022
WNT110Aug 23, 2022
WT19Oct 28, 2022
XIAP8Jul 7, 2022
XPNPEP36Oct 28, 2022
XYLT233Aug 23, 2022
ZFYVE26115Mar 15, 2022
ZNF469217Aug 23, 2022

Condition

NameSubmissionsLast Updated
Atypical hemolytic-uremic syndrome153Oct 28, 2022
Autoinflammatory syndrome1480Sep 25, 2024
CFTR-related disorder84May 10, 2022
Childhood neoplasm2Sep 6, 2023
Connective tissue disorder870Mar 21, 2023
Cystic fibrosis83May 10, 2022
Disorder of bone35Dec 10, 2025
Ehlers-Danlos syndrome1183Feb 15, 2024
Ehlers-Danlos syndrome progeroid type1Dec 10, 2025
Focal segmental glomerulosclerosis196Oct 28, 2022
Hereditary cancer-predisposing syndrome2Sep 6, 2023
Hereditary spastic paraplegia1808Dec 10, 2025
Kidney disorder319Oct 28, 2022
Metachondromatosis1Feb 23, 2023
Nephrotic syndrome2Dec 10, 2025
Neurofibromatosis, type 1396Sep 25, 2024
Noonan syndrome and Noonan-related syndrome539Sep 25, 2024
Osteogenesis imperfecta460Dec 10, 2025

Testing in GTR

Disease nameNumber of tests
Abnormality of connective tissue2 tests
Abnormality of the skeletal system2 tests
Achondroplasia1 test
Acrocephalosyndactyly type I1 test
Aicardi-Goutieres syndrome 12 tests
Aicardi-Goutieres syndrome 22 tests
Aicardi-Goutieres syndrome 32 tests
Aicardi-Goutieres syndrome 42 tests
Aicardi-Goutieres syndrome 52 tests
Aicardi-Goutieres syndrome 62 tests
Aicardi-Goutieres syndrome 72 tests
Angelman syndrome1 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 1A1 test
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 11 test
CBL-related disorder1 test
CHARGE syndrome1 test
Cardiofaciocutaneous syndrome 41 test
Chudley-McCullough syndrome1 test
Costello syndrome1 test
Cystic fibrosis1 test
Deafness1 test
Dilated cardiomyopathy 3B1 test
FRAXE1 test
Fabry disease1 test
Familial dysautonomia1 test
Familial hemophagocytic lymphohistiocytosis2 tests
Fanconi anemia complementation group C1 test
Focal segmental glomerulosclerosis1 test
Fragile X syndrome1 test
Hearing impairment9 tests
Hemolytic uremic syndrome, atypical, susceptibility to, 11 test
Hypochondroplasia1 test
Jervell and Lange-Nielsen syndrome1 test
Jervell and Lange-Nielsen syndrome 21 test
Kennedy disease1 test
Legius syndrome2 tests
Li-Fraumeni syndrome1 test
Mesangiocapillary glomerulonephritis, type II1 test
Mucolipidosis type IV1 test
Muenke syndrome1 test
Neurofibromatosis, type 12 tests
Neuromuscular disease caused by qualitative or quantitative defects of dystrophin1 test
Noonan syndrome 11 test
Noonan syndrome 101 test
Noonan syndrome 31 test
Noonan syndrome 41 test
Noonan syndrome 51 test
Noonan syndrome 61 test
Noonan syndrome 71 test
Noonan syndrome 81 test
Noonan syndrome 91 test
Noonan syndrome-like disorder with loose anagen hair 11 test
Osteopetrosis2 tests
Pendred syndrome2 tests
Pfeiffer syndrome1 test
Prader-Willi syndrome1 test
Recurrent fever2 tests
Recurrent fractures2 tests
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
Spastic paraplegia2 tests
Spinal muscular atrophy2 tests
Spongy degeneration of central nervous system1 test
Systemic autoinflammation2 tests
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
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