Ontario Genetic Test Directory

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

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

Ashkenazi Jewish Panel

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)

Ashkenazi Jewish Panel

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)

Ashkenazi Jewish Panel

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)

Ashkenazi Jewish Panel

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)

Ataxia Telangiectasia, Nijmegen Breakage syndrome, Chromosome Breakage Test

All chromosomes

Engraftment, BMT Monitoring, FVLtest

ASPA

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

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

Smith-Magenis Syndrome

SMS

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)

HIRA (TUPLE1)

X,Y, 13, 18, 21

UBE3A

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

5p15.2 Region (D5S23/D5S721)

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

KAL

SNRPN

Cystic Fibrosis (CF), pancreatic fibrosis, mucoviscidosis, Congenital bilateral absence of vas deferens

CFTR

Dihydropyrimidine dehydrogenase deficiency, DPYD genotyping, DPYD pharmacogenomics

DPYD

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

DPYD

Pharmagogenetics, Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidinuria, DPD deficiency, Familial pyrimidemia, Hereditary thymine-uraciluria

DPYD

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

F5

Factor V Leiden Thrombophilia, Hereditary Resistance to Activated Protein C

F5

IKBKAP

FANCC

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)

HIRA (TUPLE1), 22q11.21

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

5p15.2, 5p15.31

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

KAL1, Xp22.33

Saethre-Chotzen (Saethre-Chotzen Syndrome, Acrocephalosyndactyly Type III (ACS3), Chotzen syndrome, Blepharophimosis,epicanthus inversus, and ptosis 3)

TWIST1, 7p21.2

Smith-Magenis syndrome (Smith-Magenis syndrome (SMS), Chromosome 17p11.2 deletion syndrome)

RAI1, 17p11.2

Smith-Magenis Syndrome, Microdeletion 22q11.2 Syndrome

RAI1(17p11,.2)/LIS1(17p13.3)

Sotos syndrome (Sotos syndrome, cerebral gigantism)

NSD1, 5q35

Steroid Sulfatase Deficiency (X-Linked Ichthyosis, Steroid Sulfatase Deficiency (SSD), Steroid sulfatase deficiency disease (SSDD), Placental steroid sulfatase deficiency)

STS, Xp11.31

Williams syndrome (Williams syndrome (WS), Williams-Beuren Syndrome (WBS), idiopathic infantile hypercalcemia (IHC), supravalvular aortic stenosis syndrome (SASS), Williams elfin facies syndrome, Beuren Syndrome, Elfin Facies with Hypercalcemia, Hypercalcemia-Supravalvar Aortic Stenosis, Early Hypercalcemia Syndrome with Elfin Facies)

ELN, 7q11.23

Williams Syndrome, 7q11.23 Deletion

7q11.23/7q31

Galactosemia, Galactose-1-Phosphate Uridyl Transferase Deficiency (GALT), GALT Deficiency, transferase deficiency galactosemia, classic galactosemia, clinical variant galactosemia, biochemical variant galactosemia (Duarte variant galactosemia)

GALT (N314D, Q188R)

Developmental delay and/or multiple congenital anomalies

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

HFE (c.187C>G), HFE (c.845G>A)

Hereditary Breast Cancer (Ashkenazi Jewish mutations)

BRCA1 (c.5266dupC), BRCA1 (c.68_69delAG), BRCA2 (c.5946delT)

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

HFE (p.Cys282Tyr), HFE (p.His63Asp)

Hemochromatosis Type 1, HFE-Associated Hemochromatosis, HFE-HH, primary hemochromatosis, genetic hemochromatosis, bronze diabetes with cirrhosis

HFE (p.Cys282Tyr), HFE (p.His63Asp)

Hereditary Lung Cancer

EGFR (T790M), EGFR (V769M), EGFR (V834I)

Identity testing

Identity

Suspected aneuploidy, Recurrent Miscarriage (>=3), Amenorrhea, Ambiguous genitalia, Infertility, Short Stature, Stillbirth, Klinefelter Syndrome, Neonatal Death

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

All Chromosomes

Maternal cell contamination (MCC)

Chromosomes 13, 18, 21, X and Y

Maternal cell contamination (MCC)

Developmental Delay, Intellectual Disability, Two or more congenital anomalies

Developmental delay, intellectual disability, congenital anomalies

Chromosome complement

Confirming Microarray findings

Custom

Homocystinuria, Hereditary Thrombosis

MTHFR

MCOLN1