Ontario Genetic Test Directory

Kingston General Hospital

Cardiomyopathy

Genome backbone

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Kingston General Hospital

Cardiomyopathy and Arrhythmia

Genome backbone

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Children's Hospital of Eastern Ontario

Cardiomyopathy and Arrhythmia

Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage.

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CALM1, CALM2, CALM3, CASQ2, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KCNE1, KCNE2, KCNH2, KCNJ2, KCNQ1, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPA2, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SLC22A5, SLC4A3, SOS1, SOS2, TAFAZZIN, TBX5, TECRL, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRIM63, TRPM4, TTN, TTR, VCL

Children's Hospital of Eastern Ontario

Cardiomyopathy

Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage.

ABCC9, ACADVL, ACTC1, ACTN2, ALPK3, BAG3, BRAF, CACNA1C, CAV3, CSRP3, CTNNA3, DES, DMD, DSC2, DSG2, DSP, DYSF, EMD, FHL1, FHOD3, FKRP, FKTN, FLNC, GAA, GATA4, GLA, HCN4, HRAS, JPH2, JUP, KLHL24, KRAS, LAMP2, LDB3, LMNA, LZTR1, MAP2K1, MAP2K2, MIB1, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NEXN, NKX2-5, NRAP, NRAS, OBSCN, PKP2, PLEKHM2, PLN, PPP1CB, PRDM16, PRKAG2, PTPN11, RAF1, RBM20, RIT1, RRAGD, RRAS2, RYR2, SCN5A, SHOC2, SOS1, SOS2, TAFAZZIN, TBX5, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRIM63, TTN, TTR, VCL

Kingston General Hospital

Hypertrophic Cardiomyopathy

Genome backbone

ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Children's Hospital of Eastern Ontario

Hypertrophic Cardiomyopathy

Oligonucleotide based target capture, sanger sequencing for any clinically significant regions that are not captured and/or have insufficient coverage.

ABCC9, ACTC1, ACTN2, ALPK3, BRAF, CACNA1C, CSRP3, DES, FHL1, FHOD3, FLNC, GLA, HRAS, JPH2, KLHL24, KRAS, LAMP2, LZTR1, MAP2K1, MAP2K2, MRAS, MT-TI, MYBPC3, MYH7, MYL2, MYL3, MYO6, NRAS, PLN, PPP1CB, PRKAG2, PTPN11, RAF1, RIT1, RRAS2, SHOC2, SOS1, SOS2, TNNC1, TNNI3, TNNT2, TPM1, TRIM63, TTR, VCL

Hamilton Health Sciences Centre

Alpha Thalassemia, Alpha thalassemia silent carrier, Alpha thalassemia minor (trait), Hemoglobin H (HbH) disease, Hemoglobin H-Constant Spring, Hb Bart's hydrops fetalis

Direct Exon Sequencing + MLPA

HBA1, HBA2, HBZ

Trillium Health Partners - Credit Valley Hospital

Trisomy (13, 15, 16, 18,21, 22) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

AMEL, D13S305, D13S325, D13S628, D13S634, D15S1515, D15S659, D15S822, D16S2621, D16S2624, D16S539, D16S753, D18S1002, D18S386, D18S535, D18S819, D21S11, D21S1411, D21S1437, D21S1442, D22S683, D22S685, D22S686, D22S689, Extra Reflex Markers: D13S252, D13S800, FES, FPS, SRY, TAF9L

Trillium Health Partners - Credit Valley Hospital

Trisomy (13, 18, 21) and Sex Determination (X,Y), Rapid Aneuploidy Determination (RAD)

AMEL, D13S252, D13S305, D13S628, D13S634, D13S800, D18S386, D18S390, D18S535, D18S819, D18S978, D21S11, D21S1409, D21S1435, D21S1437, D21S1442, D21S1446, DXS1187, DXS6803, Extra Reflex Markers: D13S325, D13S762, D13S797, D18S391, D18S1002, D18S847, D18S977, D21S1411, DXS6807, DXS6809, DXS7423, DXS981, DXYS218, DXYS267, DYS448, HPRT, SRY, TAF9L

Children's Hospital of Eastern Ontario

Angelman Syndrome (AS)

methylation-specific MLPA assay

15q11-13

The Hospital for Sick Children

UPD15, Angelman Syndrome

UPD15 Analysis

Chromosome 15

London Health Sciences Centre

Ashkenazi Jewish Panel

Targeted Mutation

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

Trillium Health Partners - Credit Valley Hospital

Ashkenazi Jewish Panel

Targeted Mutations

APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (5382insC or 5385insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

Kingston General Hospital

Ashkenazi Jewish Panel

Targeted Mutation

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

University Health Network

Ashkenazi Jewish Panel

Targeted Mutations

APC (I1307K), BRCA1 (185delAG or 187delAG), BRCA1 (c.5382insC), BRCA2 (617delT), CHEK2 (1283C>T), GREM1 (40 kb dup), MSH2 (A636P), MSH6 (c.3959_3962delCCAG), MSH6 (c.3984_3987dupGTCA)

Mount Sinai Hospital

Ashkenazi Jewish Panel

Targeted Mutation, GREM1 CNV only

APC c.3920T>A p.Ile1307Lys, BRCA1 c.5266dupC p.Gln1756Profs, BRCA1 c.68_69del p.Glu23fs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3959_3962delCAAG p.Ala1320Glufs, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs

North York General Hospital

Ashkenazi Jewish Panel

Targeted Mutation

APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)

The Hospital for Sick Children

Ashkenazi Jewish Panel, Bloom syndrome, Canavan disease, Familial Dysautonomia, Fanconi Anemia Group C, Mucolipidosis IV, Niemann-Pick disease,Tay-Sachs disease

Mass Array and Targeted Sanger Sequencing

ASPA, BLM, FANCC, HEXA, IKBKAP, MCOLN1, SMPD1

The Hospital for Sick Children

Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test

3 day PHA-stimulated culture; G-banding

All chromosomes

Hamilton Health Sciences Centre

Beta Thalassemia, beta thalassemia major (Cooley's Anemia), Mediterranean Anemia, beta thalassemia intermedia, beta thalassemia minor (beta thalassemia trait), dominant beta thalassemia

Direct Exon Sequencing + MLPA

HBB, HBD, HbE, HBG1, HBG2

The Hospital for Sick Children

Bloom Syndrome, Sister Chromatid Exchange

3 day culture with addition of Bromodeoxyuridine; Specialized staining for SCE; Sequencing of BLM

All chromosomes, BLM

The Hospital for Sick Children

Engraftment, BMT Monitoring

Identifiler

The Hospital for Sick Children

Mass Array and Targeted Sanger Sequencing

ASPA

Children's Hospital of Eastern Ontario

Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

G-banded metaphase analysis

Kingston General Hospital

Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD), Prenatal

GTG

G-band analysis, Whole Genome

Mount Sinai Hospital

Infertility, Recurrent pregnancy loss, Disorder of sex development (DSD)

Trillium Health Partners - Credit Valley Hospital

Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome, Family Hx of Chromosome Rearrangement

chromosome complement

North York General Hospital

Ambiguous genitalia, Amenorrhea, Azoospermia/Oligospermia, Klinefelter syndrome, Premature/early menopause, Premature ovarian insufficiency, Recurrent pregnancy loss (≥3), Turner syndrome

GTG Banding

Kingston General Hospital

Wolf-Hirschhorn syndrome (Wolf-Hirschhorn syndrome (WHS), 4p- syndrome, Pitt-Rogers-Danks syndrome (PRDS), monosomy 4p)

metaphase and interphase FISH

NSD2(MMSET)/NELFA(WHSC2)

Kingston General Hospital

22q11.21 Deletion Syndrome (DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome, and Cayler cardiofacial syndrome (asymmetric crying facies), Sedlackova syndrome, Shprintzen Syndrome)

Constitutional FISH

HIRA (TUPLE1)

Kingston General Hospital

Constitutional FISH

X,Y, 13, 18, 21

Kingston General Hospital

Constitutional FISH

UBE3A

Kingston General Hospital

Cri-du-Chat Syndrome (Cri-du-Chat Syndrome, CdCS, 5p-, cat's cry syndrome, Lejeune syndrome)

Constitutional FISH

5p15.2 Region (D5S23/D5S721)

Kingston General Hospital

Disorders of sex Development

Constitutional FISH

SRY

Kingston General Hospital

Kallmann Syndrome (Kallmann Syndrome, Idiopathic Hypogonadotropic Hypogonadism (IHH), Isolated Hypogonadotropic Hypogonadism (IHH), isolated GnRH deficiency (IGD), Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency)

Constitutional FISH

KAL