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Molecular Genetics Laboratory (BC Children's and BC Women's Hospitals)

General information

Molecular Genetics Laboratory
BC Children's and BC Women's Hospitals
2J40-4500 Oak Street
Vancouver
British Columbia
Canada - V6H 3N1
http://www.genebc.ca/
Organization ID: 249401

View this laboratory in GTR

Assertion criteria

Level: Assertion criteria provided

Summary of submissions to ClinVar

Total submissions: 383

Gene

GeneSubmissionsLast Updated
ABCB71Sep 7, 2017
ACTB2May 30, 2017
ADNP2Jan 22, 2019
AHDC13Jun 25, 2018
ALMS12May 30, 2017
ALPL1Jan 22, 2019
ANKRD11Sep 7, 2017
ANKRD115Jun 25, 2018
AP4B11May 30, 2017
AP4B1-AS11May 30, 2017
APOB1Jun 25, 2018
AR5Oct 25, 2024
ARFGEF11Oct 2, 2024
ARID1B6Jan 22, 2019
ASH1L2Jan 22, 2019
ASXL11Sep 7, 2017
AUTS22Jun 25, 2018
BCOR1May 30, 2017
BRAF1Jan 22, 2019
BRPF12Jan 22, 2019
BTD2Oct 2, 2024
C1QTNF52Sep 7, 2017
CACNA1S2Oct 25, 2024
CASK1Jun 25, 2018
CBL1May 30, 2017
CCDST1Jun 25, 2018
CDK132Jan 22, 2019
CDK81Oct 2, 2024
CFTR19Oct 25, 2024
CFTR-AS14Feb 2, 2024
CHD21May 30, 2017
CHD81May 30, 2017
CHUK-DT1Sep 7, 2017
CNKSR22Jun 25, 2018
CREBBP1Jul 21, 2017
CTCF1Jan 22, 2019
CTNNB13Jun 25, 2018
CWF19L12Sep 7, 2017
DDX3X4Jun 25, 2018
DMD2Oct 25, 2024
DNMT3A2Jun 25, 2018
DPAGT11Oct 2, 2024
DUSP291Sep 7, 2017
DYRK1A2Jun 25, 2018
EBF32Sep 7, 2017
EDA1Jan 22, 2019
EHMT11May 30, 2017
EP3005Jun 25, 2018
FGFR32Feb 2, 2024
FLG1Jun 25, 2018
FOXG11May 30, 2017
FOXP11May 30, 2017
GABRB31Jun 25, 2018
GATAD2B1May 30, 2017
GCDH1Oct 2, 2024
GH-LCR2Nov 23, 2022
GJB217Oct 25, 2024
GNAS1Jan 22, 2019
GNB11Jun 25, 2018
GRIN12Jun 25, 2018
HBA21Nov 23, 2022
HBB18Oct 25, 2024
HNRNPU1May 30, 2017
HPDL2Dec 2, 2021
ITPR11Jun 25, 2018
KAT6A1Jun 25, 2018
KAT6B2Sep 7, 2017
KCNA21Jun 25, 2018
KCNB12Jun 25, 2018
KCNQ22Sep 7, 2017
KDM6A1Jun 25, 2018
KIF1A2Jun 25, 2018
KMT2D4Jun 25, 2018
KMT5B1Jun 25, 2018
LDLR1Sep 7, 2017
LOC10609906214Oct 25, 2024
LOC1068046121Nov 23, 2022
LOC10713351018Oct 25, 2024
LOC1100063194Oct 25, 2024
LOC1101212695Nov 23, 2022
LOC1116744723Oct 2, 2024
LOC1116744772Oct 25, 2024
LOC1268065901Jun 25, 2018
LOC1268066592Jun 25, 2018
LOC1268622644Jul 19, 2023
LOC1299350261May 30, 2017
LRP21Jun 25, 2018
MAP2K11Oct 2, 2024
MECP23Apr 11, 2017
MED131Oct 2, 2024
MED13L2Oct 2, 2024
MEFV22Oct 25, 2024
MEIS21Jun 25, 2018
MFRP2Sep 7, 2017
MVK5Oct 2, 2024
MYT1L1Sep 7, 2017
NALCN1May 30, 2017
NEDD4L2Jun 25, 2018
NEXMIF1Jan 22, 2019
NF11Sep 7, 2017
NIPBL1Oct 2, 2024
NKX2-11Jun 25, 2018
NOTCH320Oct 25, 2024
NR2F12Jun 25, 2018
NR2F1-AS12Jun 25, 2018
OPA11Sep 7, 2017
PAFAH1B11Jun 25, 2018
PAK31May 30, 2017
PHF61May 30, 2017
PHIP1Oct 2, 2024
PIK3CA1Jan 22, 2019
PIK3CD1May 30, 2017
PIK3R11Jan 22, 2019
PMP221Mar 23, 2020
POLR2A1Apr 15, 2021
PPM1D1Jan 22, 2019
PPP1CB1Oct 2, 2024
PQBP11May 30, 2017
PTEN2Jan 22, 2019
PTPN113Oct 2, 2024
PURA1Sep 7, 2017
PYCR12Sep 7, 2017
RAB232Oct 2, 2024
RAI12Jan 22, 2019
RPS6KA32Sep 7, 2017
RYR12Oct 2, 2024
SACS1Jun 25, 2018
SCN2A1Oct 2, 2024
SCN4A3Feb 2, 2024
SCN5A46Oct 25, 2024
SCN8A2Jun 25, 2018
SETD55Oct 2, 2024
SFTA31Jun 25, 2018
SHANK31Jan 22, 2019
SHH1Oct 2, 2024
SIL11Oct 2, 2024
SKIC32Jan 22, 2019
SMARCB11May 30, 2017
SPAST2Jan 22, 2019
SRD5A23Oct 25, 2024
STAG11Jun 25, 2018
STXBP12Jan 22, 2019
SYNGAP13Jun 25, 2018
SYNGAP1-AS12Jun 25, 2018
TBCK2May 30, 2017
TBL1XR11Jun 25, 2018
TBL1XR1-AS11Jun 25, 2018
TBR11May 30, 2017
TCF41Jan 22, 2019
TNFRSF13B1Oct 2, 2024
TNFRSF1A7Oct 25, 2024
TRIO1Jun 25, 2018
TTR15Oct 25, 2024
TUBA1A1May 30, 2017
TUBB4A1Jun 25, 2018
UBE2A1Jun 25, 2018
USP9X1May 30, 2017
VPS13B2Jun 25, 2018
WAC1May 30, 2017
WDR261Sep 7, 2017
WNT10A1Jan 22, 2019
WRN2Apr 11, 2017
ZEB21Jun 25, 2018
ZFHX41Oct 2, 2024
ZFYVE262Sep 7, 2017

Condition

NameSubmissionsLast Updated
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency3Oct 25, 2024
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder2Jan 22, 2019
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome3Jun 25, 2018
Alstrom syndrome2May 30, 2017
Amyloidosis, hereditary systemic 115Oct 25, 2024
Androgen resistance syndrome5Oct 25, 2024
Autism spectrum disorder due to AUTS2 deficiency2Jun 25, 2018
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome1Jun 25, 2018
Autosomal recessive cutis laxa type 2B2Sep 7, 2017
Autosomal recessive spinocerebellar ataxia 172Sep 7, 2017
Baraitser-Winter syndrome 12May 30, 2017
Biotinidase deficiency2Oct 2, 2024
Blepharophimosis - intellectual disability syndrome, SBBYS type1May 30, 2017
Bohring-Opitz syndrome1Sep 7, 2017
Borjeson-Forssman-Lehmann syndrome1May 30, 2017
Bosch-Boonstra-Schaaf optic atrophy syndrome2Jun 25, 2018
Brain-lung-thyroid syndrome1Jun 25, 2018
Brugada syndrome46Oct 25, 2024
CASK-related disorder1Jun 25, 2018
CBL-related disorder1May 30, 2017
CFTR-related disorder9Oct 25, 2024
Cardiac anomalies - developmental delay - facial dysmorphism syndrome2Oct 2, 2024
Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies1Jun 25, 2018
Cardiofaciocutaneous syndrome 11Jan 22, 2019
Cardiofaciocutaneous syndrome 31Oct 2, 2024
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy20Oct 25, 2024
Charlevoix-Saguenay spastic ataxia1Jun 25, 2018
Coffin-Lowry syndrome2Sep 7, 2017
Coffin-Siris syndrome 16Jan 22, 2019
Cohen syndrome2Jun 25, 2018
Complex neurodevelopmental disorder1Oct 2, 2024
Congenital contractures of the limbs and face, hypotonia, and developmental delay1May 30, 2017
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder2Jan 22, 2019
Cornelia de Lange syndrome 11Oct 2, 2024
Cowden syndrome 51Jan 22, 2019
Cystic fibrosis10Oct 25, 2024
DPAGT1-congenital disorder of glycosylation1Oct 2, 2024
DYRK1A-related intellectual disability syndrome2Jun 25, 2018
DeSanto-Shinawi syndrome due to WAC point mutation1May 30, 2017
Developmental and epileptic encephalopathy 941May 30, 2017
Developmental and epileptic encephalopathy, 261Jun 25, 2018
Developmental and epileptic encephalopathy, 321Jun 25, 2018
Developmental and epileptic encephalopathy, 41Jan 22, 2019
Developmental and epileptic encephalopathy, 431Jun 25, 2018
Developmental and epileptic encephalopathy, 71May 30, 2017
Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures1Oct 2, 2024
Donnai-Barrow syndrome1Jun 25, 2018
Duchenne muscular dystrophy2Oct 25, 2024
Dysmorphic features1May 30, 2017
Familial Mediterranean fever22Oct 25, 2024
Familial hyperkalemic periodic paralysis1Nov 23, 2022
GNAS-related disorder1Jan 22, 2019
Glutaric aciduria, type 11Oct 2, 2024
Hemoglobin H disease1Nov 23, 2022
Hereditary liability to pressure palsies2Mar 23, 2020
Hereditary spastic paraplegia 152Sep 7, 2017
Hereditary spastic paraplegia 42Jan 22, 2019
Hereditary spastic paraplegia 471May 30, 2017
Holoprosencephaly 31Oct 2, 2024
Hypercholesterolemia, familial, 11Sep 7, 2017
Hyperimmunoglobulin D with periodic fever5Oct 2, 2024
Hypokalemic periodic paralysis2Oct 25, 2024
Hypomyelinating leukodystrophy 61Jun 25, 2018
Hypotonia, ataxia, and delayed development syndrome1Sep 7, 2017
Hypotonia, infantile, with psychomotor retardation and characteristic facies 32May 30, 2017
ITPR1-associated cerebellar ataxia spectrum disorder1Jun 25, 2018
Immunodeficiency 141May 30, 2017
Immunodeficiency, common variable, 21Oct 2, 2024
Intellectual developmental disorder 611Oct 2, 2024
Intellectual developmental disorder with autism and macrocephaly1May 30, 2017
Intellectual developmental disorder with dysmorphic facies and ptosis1Jan 22, 2019
Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold1Jan 22, 2019
Intellectual developmental disorder with hypotonia and behavioral abnormalities1Oct 2, 2024
Intellectual disability1May 30, 2017
Intellectual disability, X-linked 1024Jun 25, 2018
Intellectual disability, X-linked 301May 30, 2017
Intellectual disability, autosomal dominant 151May 30, 2017
Intellectual disability, autosomal dominant 391Sep 7, 2017
Intellectual disability, autosomal dominant 411Jun 25, 2018
Intellectual disability, autosomal dominant 421Jun 25, 2018
Intellectual disability, autosomal dominant 471Jun 25, 2018
Intellectual disability, autosomal dominant 53Jun 25, 2018
Intellectual disability, autosomal dominant 511Jun 25, 2018
Intellectual disability, autosomal dominant 522Jan 22, 2019
Intellectual disability, autosomal dominant 82Jun 25, 2018
Intellectual disability, autosomal dominant 92Jun 25, 2018
Intellectual disability, seizures, abnormal gait and distinctive facial features1Sep 7, 2017
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency5Oct 2, 2024
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome1Jan 22, 2019
Intellectual disability-severe speech delay-mild dysmorphism syndrome1May 30, 2017
Isolated microphthalmia 52Sep 7, 2017
KAT6B-Related Spectrum Disorders1Sep 7, 2017
KBG syndrome5Jun 25, 2018
KCNB1-related disorder1Jun 25, 2018
KCNQ2-related disorder1Sep 7, 2017
Kabuki syndrome 14Jun 25, 2018
Kabuki syndrome 21Jun 25, 2018
Kleefstra syndrome 11May 30, 2017
Learning difficulty1May 30, 2017
Lissencephaly due to LIS1 mutation1Jun 25, 2018
Marinesco-Sjögren syndrome1Oct 2, 2024
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome1Jun 25, 2018
Mowat-Wilson syndrome1Jun 25, 2018
Neurodevelopmental disorder3May 30, 2017
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities1Apr 15, 2021
Neurofibromatosis, type 11Sep 7, 2017
Nonsyndromic Deafness3Oct 25, 2024
Nonsyndromic genetic hearing loss6Jul 19, 2023
Noonan syndrome 13Oct 2, 2024
Noonan syndrome-like disorder with loose anagen hair 21Oct 2, 2024
Ocular impairment1Sep 7, 2017
Oculofaciocardiodental syndrome1May 30, 2017
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome1Oct 2, 2024
PTEN hamartoma tumor syndrome1Jan 22, 2019
PTEN-related disorder1Jun 25, 2018
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome1Sep 7, 2017
Paramyotonia congenita of Von Eulenburg1Apr 15, 2021
Periventricular nodular heterotopia 72Jun 25, 2018
Phelan-McDermid syndrome1Jan 22, 2019
Pitt-Hopkins syndrome1Jan 22, 2019
RAB23-related Carpenter syndrome2Oct 2, 2024
RYR1-related myopathy1Oct 2, 2024
Renpenning syndrome1May 30, 2017
Rett syndrome3Apr 11, 2017
Rett syndrome, congenital variant1May 30, 2017
Rubinstein-Taybi syndrome due to CREBBP mutations1Jul 21, 2017
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency5Jun 25, 2018
SCN8A-related disorder1Jun 25, 2018
SCN8A-related epileptic disorder1Jun 25, 2018
SHORT syndrome1Jan 22, 2019
STXBP1-associated neurodevelopmental disorder1Sep 7, 2017
Sensorineural hearing loss disorder2Mar 23, 2020
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome1May 30, 2017
Severe intellectual disability-progressive spastic diplegia syndrome3Jun 25, 2018
Smith-Magenis syndrome2Jan 22, 2019
Syndromic X-linked intellectual disability Nascimento type1Jun 25, 2018
TNF receptor-associated periodic fever syndrome (TRAPS)7Oct 25, 2024
Tatton-Brown-Rahman overgrowth syndrome2Jun 25, 2018
Thanatophoric dysplasia1Feb 2, 2024
Thanatophoric dysplasia type 11Mar 23, 2020
Tooth agenesis, selective, X-linked, 11Jan 22, 2019
Tubulinopathy1May 30, 2017
Werner syndrome2Apr 11, 2017
X-linked intellectual disability, Cantagrel type1Jan 22, 2019
X-linked recessive seizure and neurodevelopmental deficit1Sep 7, 2017
X-linked sideroblastic anemia with ataxia1Sep 7, 2017
ZFHX4-related syndrome1Oct 2, 2024
beta Thalassemia18Oct 25, 2024
nonsyndromic sensorineural hearing loss6Apr 15, 2021
not provided10Dec 2, 2021

Testing in GTR

Disease nameNumber of tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency1 test
Achondroplasia1 test
Alpha trait thalassemia1 test
Alpha-thalassemia and related diseases1 test
Alpha-thalassemia-related diseases1 test
Amyloidosis, hereditary systemic 11 test
Androgen resistance syndrome1 test
Angelman syndrome1 test
Ashkenazi Jewish disorders1 test
Azorean disease1 test
Becker muscular dystrophy1 test
Brugada syndrome1 test
Brugada syndrome 11 test
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy1 test
Charcot-Marie-Tooth disease, type I1 test
Charcot-Marie-Tooth disease, type IA1 test
Cystic fibrosis1 test
Dilated cardiomyopathy 3B1 test
Duchenne muscular dystrophy1 test
Early-onset generalized limb-onset dystonia1 test
Familial Mediterranean fever1 test
Familial hyperkalemic periodic paralysis1 test
Fragile X syndrome1 test
Fragile X-associated tremor/ataxia syndrome1 test
Friedreich ataxia 11 test
Hb SS disease1 test
Hemochromatosis type 11 test
Hemoglobin Bart hydrops syndrome1 test
Hemoglobin H disease1 test
Hemoglobin H disease, nondeletional1 test
Hereditary liability to pressure palsies1 test
Huntington disease1 test
Hyperimmunoglobulin D with periodic fever1 test
Hypochondroplasia1 test
Hypokalemic periodic paralysis1 test
Kennedy disease1 test
Muenke syndrome1 test
Myotonic dystrophy1 test
Myotonic dystrophy type 21 test
Oculopharyngeal muscular dystrophy1 test
Prader-Willi syndrome1 test
Premature ovarian failure1 test
Qualitative or quantitative defects of dystrophin1 test
Sensorineural hearing loss disorder1 test
Sickle cell-hemoglobin C disease1 test
Spinal muscular atrophy1 test
Spinocerebellar ataxia 71 test
Spinocerebellar ataxia type 11 test
Spinocerebellar ataxia type 21 test
Spinocerebellar ataxia type 61 test
TNF receptor-associated periodic fever syndrome (TRAPS)1 test
Thalassemia1 test
Thanatophoric dysplasia type 11 test
Thanatophoric dysplasia, type 21 test
X-linked ichthyosis with steryl-sulfatase deficiency1 test
alpha Thalassemia1 test
beta Thalassemia1 test