Page 1 of 5 London Health Sciences Centre – Molecular Diagnostics Reason for Referral: Requisition for DNATesting Ph: 519-685-8122 |Fax: 519-685-8279 London, Ontario |N6A5W9 800 Commissioners Rd E. Victoria Hospital, Room B10-123A MOLECULAR GENETICS LABORATORY Clinical Diagnostics andFamily History: Sample Collection: Lab Use Only: Name of index case inthefamily RefSeq:NM: : Relationship to thispatient: Date drawn: Date of Birth: Notes: Received date: (slides preferred) Formalin fixed paraffin embeddedtissue(FFPE) Fresh/Frozen Tissue ug DNA (100ngto 1ug): EDTA bonemarrow (lavender top)(min. 2mlat room temp) EDTA blood(lavender top)(min. 2mlat room temp) Referral to anoutside laboratory RNA Banking DNA Banking Prenatal Diagnosis FamilyCarrier testing/Known Mutation Diagnostic Testing: Other: Unaffected Affected ( ) YYYY/MM/DD (provide tissue source): tissue (provide Mutation: (include copy of report): of copy (include (must specify lab): specify (must

Referring Physician: INCOMPLETE REQUESTS WILLBEBANKED Patient Information: Request for Expedited Result: Test Requests:

AUTHORIZED SIGNATURE ISREQUIRED Telephone: Telephone: Address: E-mail address: Address: Name: Signature: Physician name(print): Medical intervention Medical intervention using thecheckbox adjacent to theitem of interest. Panels, sub-panels orindividualgenes maybe selected Use attached menuto select panels orindividualgenes. CC report to: Sex: Address: Birthdate: Name: Health Card Number: Pregnancy Male

: YY/MM/DD) (L.M.P., Female (specify with date): with (specify Pathology and LaboratoryMedicine Fax: Fax:

NGSMGL(12/06/2017)

Page 2 of 5 London Health Sciences Centre – Molecular Diagnostics Patient Information: FOR SAMPLEREQUIREMENTS SEE:http://www.lhsc.on.ca/lab/molegen/index.htm Requisition for DNATesting Ph: 519-685-8122 |Fax: 519-685-8279 London, Ontario |N6A5W9 800 Commissioners Rd E. Victoria Hospital, Room B10-123A MOLECULAR GENETICS LABORATORY NGS Panels (includesdeletion/duplication analysis) Charcot MarieTooth –Individual selections Hereditary Cancer –Individualselections Charcot MarieTooth Hereditary Cancer Name: SDHB, SMAD4,STK11, TP53 APC (incl.5’UTR),BMPR1A,CDH1,CDK4,CHEK2,CTNNA1, EPCAM,GREM1,MLH1(incl.5’UTR),MSH2,MSH6,MUTYH, PMS2,POLD1,POLE,PTEN (incl.5’UTR), Hereditary Cancer –Colorectal/Gastric Cancer (20) RAD51D, RAD51C, STK11 TP53 ATM, BARD1,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,EPCAM,FANCC, FANCM, FLCN, MLH1(incl.5’UTR),MSH2,MSH6,NBN,PALB2, PMS2,PTEN (incl.5’UTR), Hereditary Cancer –Breast/Ovarian (19) APC (incl.5’UTR),ATM, BRCA1,BRCA2,CDH1,CHEK2,EPCAM,MLH1(incl.5’UTR),MSH2,MSH6,MUTYH, PALB2, PMS2,PTEN (incl.5’UTR),STK11, TP53 Hereditary Cancer –HighPenetrance (16) MLH1 (incl.5’UTR),MSH2,MSH3,MSH6,MUTYH, NBN,NTHL3,PALB2, PMS2,POLE,POLD1,PTEN (incl.5’UTR),RAD51C, RAD51D, SDHB,SMAD4,STK11, TP53 APC (incl.5’UTR),ATM, BARD1,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,CTNNA1, EPCAM,FANCC, FANCM, FLCN, GREM1,HOXB13, MEN1, NEFL, PDK3,PRPS1, RAB7A, SBF2,SPTLC1, TRPV4,TTR AARS, AIFM1,DNAJB2,DYNC1H1, FGD4, GARS, GDAP1, GJB1,HSPB1,HSPB8,IGHMBP2,KIF1B,LMNA,LRSAM1, MARS, MED25,MFN2,MPZ, MTMR2,NDRG1, Charcot MarieTooth –Type2 (28) EGR2, FIG4,GDAP1, GJB1,LITAF, MPZ, NEFL,PMP22,PRX, SH3TC2 Charcot MarieTooth –Type1 (10) MTMR2, NDRG1,NEFL,PDK3,PMP22,PRPS1, PRX, RAB7A, SBF2,SH3TC2, SPTLC1, TRPV4, TTR AARS, AIFM1,DNAJB2,DYNC1H1, EGR2,FGD4, FIG4,GARS, GDAP1, GJB1,HSPB1,HSPB8,IGHMBP2,KIF1B,LITAF, LMNA,LRSAM1, MARS, MED25,MFN2,MPZ, Charcot MarieTooth, HNPP–Comprehensive (34) Hereditary Cancer –Comprehensive (38) LRSAM1 GREM1 PDK3 NBN TRPV4 TRPV4 GDAP1 AARS CDK4 APC RAD51D

(incl. 5’UTR)

MARS HOXB13 PMP22 NTHL1 TTR SDHB AIFM1 ATM GJB1 CDKN2A

(if patient meets OBSP criteria, please use provincial cancer requisition) cancer provincial use please criteria, OBSP meets patient (if

MED25 MEN1 PRPS1 PALB2 SMAD4 HSPB1 CHEK2 DNAJB2 BARD1

MLH1 PRX PMS2 STK11 HSPB8 CTNNA1 MFN2 DYNC1H1 BMPR1A (incl. 5’UTR)

Birthdate: RAB7A POLD1 TP53 TP53 IGHMBP2 EPCAM MPZ MSH2 EGR2 BRCA1

SBF2 POLE KIF1B FANCC MTMR2 MSH3 FGD4 BRCA2

Pathology and LaboratoryMedicine PTEN LITAF FANCM NDRG1 MSH6 SH3TC2 FIG4 BRIP1

(incl. 5’UTR) FLCN LMNA RAD51C MUTYH NEFL NEFL SPTLC1 GARS GARS CDH1 NGSMGL(12/06/2017)

Page 3 of 5 London Health Sciences Centre – Molecular Diagnostics Requisition for DNATesting Ph: 519-685-8122 |Fax: 519-685-8279 London, Ontario |N6A5W9 800 Commissioners Rd E. Victoria Hospital, Room B10-123A MOLECULAR GENETICS LABORATORY Nuclear encoded : encoded Nuclear Mitochondrial encoded genes: encoded Mitochondrial Mitochondrial Genome andDepletion andIntegrity –Individualselections Urea Cycle Disorders –Individualselections Lysosomal Storage Disorders –Individualselections (Tumour FFPE samples only) samples FFPE (Tumour Cancer Hotspot Panel v2 Mitochondrial GenomeandDepletion/Integrity Panel Urea Cycle Disorders Lysosomal Storage Disorders TRNG, TRNH,TRNI,TRNK,TRNL1,TRNL2,TRNM,TRNN,TRNP, TRNQ,TRNR,TRNS,TRNS2,TRNT, TRNV, TRNW, TRNY SUCLA2, SUCLG1,SUCLA2, TK2,TWNK,TYMP genes: encoded Mitochondrial Mitochondrial Genome andDepletion/Integrity Panel (56) ARG, ASL,ASS1, CA5A,CPS1, GLUD1, GLUL, NAGS, OTC, SLC25A2, SLC25A13, SLC25A15, SLC7A7 Urea Cycle Disorders Panel (13) PPT1, PSAP, SGSH,SLC17A5, SMPD1,SUMF1,TPP1 GNPTG, GNS,GRN,GUSB, HEXB,HGSNAT, HEXA, HYAL1, IDS,IDUA, LIPA, LAMP2, MAN2B1,MANBA, MCOLN1, MFSD8., NAGA, NAGLU, NEU1,NPC1,NPC2, AGA, ARSA, ARSB, ASAH1,CLN3,CLN5,CLN6,CLN8,CLN9,CTNS, CTSA, CTSD, CTSK, DNAJC5,FUCA1,GAA, GALC, GLB1,GM2A,GNPTAB, GALNS, GBA,GLA, Lysosomal Storage Disorders (50) Nuclear encoded genes: encoded Nuclear SUMF1 SUMF1 LAMP2 NEU1 GRN GALNS ERAS (KRAS, NRAS) TK2 OPA3 APTX TRNS2 TRNL1 TRNC ND3 ATP6 OTC ARG CTNS AGA

(isoform A&B) TPP1 LIPA NPC1 GUSB GBA DGUOK TRNT TRNL2 TRND ATP8 ASL ARSA TWNK POLG ND4 SLC25A2 CTSA

APTX, DGUOK,DNA2,FBXL4, GFER,MGME1,MPV17,OPA1, OPA3 (isoform A&B),POLG, POLG2, RRM2B,SLC25A4, SPG7(isoform 1&2),

(C10 orf2)

ATP6, ATP8, COX1, COX2, COX3, CYTB, ND1,ND2,ND3,ND4,ND4L,ND5,ND6,RNR1,RNR2, TRNA,TRNC,TRND,TRNE,TRNF, (Ion Ampliseq) (Ion Ampliseq) NPC2 MAN2B1 HEXA GLA TYMP POLG2 TRNV TRNM TRNE ND4L SLC25A13 CTSD COX1 ASS1 ARSB BRAF DNA2

PPT1 MANBA HEXB GLB1 RRM2B TRNW TRNN TRNF ND5 SLC25A15 CTSK ASAH1 FBXL4 COX2 CA5A EGFR EGFR

PSAP MCOLN1 HGSNAT GM2A SLC25A4 TRNY TRNP TRNG ND6 SLC7A7 DNAJC5 CLN3 FULL screen GFER COX3 CPS1

(2800 COSMIC mutations, research only) SGSH SGSH MFSD8 HYAL1 GNPTAB FUCA1 SPG7 RNR1 CLN5 MGME1 TRNQ TRNH CYTB GLUD1

(isoform A&B)

Pathology and LaboratoryMedicine SLC17A5 NAGA IDS GNPTG GAA GAA SUCLA2 TRNR TRNI RNR2 CLN6 MPV17 ND1 GLUL

SMPD1 SMPD1 NAGLU IDUA GNS GNS GALC GALC SUCLG1 TRNS TRNK TRNA OPA1 ND2 NAGS CLN8 NGSMGL(12/06/2017)

Page 4 of 5 London Health Sciences Centre – Molecular Diagnostics Requisition for DNATesting NGS Panels for Research Purposes Only Targeted Assays Single Genesby NGS Ph: 519-685-8122 |Fax: 519-685-8279 London, Ontario |N6A5W9 800 Commissioners Rd E. Victoria Hospital, Room B10-123A MOLECULAR GENETICS LABORATORY Epilepsy –Individualselections Epilepsy SPTLC1 JAK2-p.V617F CFTR –Cystic Fibrosis -70mutation screen T-Cell Clonality(Lymphoma) B-Cell Clonality(Lymphoma) BCR-ABL SCN4A RET TP53 NOTCH3 MEN1 GJB2 (CX26) /GJB6(CX30) ACADM – MECP2 TSC2, UBE3A,ZEB2 ATP1A2, ATP1A3, CHRNA7,CNTNAP2,FOXG1, KCNJ10, KCNJ11, KCNQ3, KCNT1, MBD5,NRXN1, PLCB1, PNKP, PRRT2, SCN9A,SLC9A6, TBC1D24,TCF4, TSC1, Epilepsy –Syndromes of Infancy (22) ARX, CDKL5,CHD2,DNM1,DOCK7,GRIN2A,GRIN2B,HCN1,KCNQ2, MECP2,MEF2C, NECAP1,PCDH19,SCN1B,SCN2A,SCN8A,SPTAN1, STXBP1, SYNGAP1 Epilepsy –Severe Phenotype (19) ASAH1, CERS1, CSTB, EPM2A,GOSR2,KCNC1, KCTD7, LMNB2,NEU1,NHLRC1,PRICKLE2,SCARB2 Epilepsy –Progressive myoclonic (12) ALDH7A1, AMT, FOLR1, GAMT, GATM, GLDC,MOCS1, PHGDH,PNPO,POLG, PSAT1, PSPH’ SCN1A,SLC2A1, SLC6A8, SUOX Epilepsy –Management Impact (16) SLC9A6, SPTAN1, STXBP1, SUOX, SYNGAP1, TBC1D24,TCF4, TSC1, TSC2, UBE3A,ZEB2 NRXN1, PCDH19,PHGDH,PLCB1, PNKP, PNPO,POLG, PRICKLE2,PRRT2, PSAT1, PSPH, SCARB2,SCN1A,SCN1B,SCN2A,SCN8A,SCN9A,SLC2A1, SLC6A8, GOSR2, GRIN2A,GRIN2B,HCN1,KCNC1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, KCNT1, KCTD7, LMNB2,MBD5,MECP2,MEF2C,MOCS1, NECAP1,NEU1,NHLRC1, ALDH7A1, AMT, ARX, ASAH1, ATP1A2, ATP1A3, CDKL5,CERS1, CHD2,CHRNA7,CNTNAP2,CSTB, DNM1,DOCK7,EPM2A,FOLR1, FOXG1, GAMT, GATM, GLDC, Epilepsy –Comprehensive (69) TCF4 MBD5 SLC2A1 KCNC1 PSAT1 FOXG1 PCDH19 CHD2 ALDH7A1 – MultipleEndocrineNeoplasiaType 2/FMTC – Li-Fraumeni Syndrome – MultipleEndocrineNeoplasiaType 1 – Paramyotonia Congenita – RETTSyndrome (Available for research purposes only)

– Hereditary Sensory Neuropathy– Hereditary Sensory – CMLminimalresidual disease (quantitative RT-PCR) – CADASIL Medium Chain Acyl CoADehydrogenaseMedium ChainAcyl (MCAD) – Myeloproliferative disorders (quantitative PCR) TSC1 MECP2 SLC6A8 KCNJ10 PSPH GAMT AMT PHGDH CHRNA7

(includes deletion/duplication analysis) – Recessive Deafness (fragment analysis) (fragment analysis) TSC2 MEF2C SLC9A6 KCNJ11 SCARB2 GATM PLCB1 CNTNAP2 ARX

(Mass Array) UBE3A MOCS1 SPTAN1 KCNQ2 SCN1A GLDC PNKP CSTB ASAH1 (includes deletion/duplication analysis)

tissue contamination studies (fragment analysis) MCC/Identity testing F5 –Factor VLeiden (F5:p.R534Q) F2 –Prothrombin G20210A(F2:c.97G>A) ARG1 OTC CLN3 CLN2 CTNS ARSA NPC2 NPC1 HFE –Hemochromatosis p.C282Y andp.H63D ZEB2 NECAP1 STXBP1 KCNQ3 SCN1B GOSR2 PNPO DNM1 ATP1A2

– OrnithineTranscarbamylase –Arginase Deficiency – Metachromatic Leukodystrophy – – Batten Disease – Niemann-PickDisease 1 – Cystinosis – Niemann-PickDisease 2

NEU1 SUOX KCNT1 SCN2A GRIN2A POLG DOCK7 ATP1A3

– Maternal cell contamination/

Pathology and LaboratoryMedicine (MassArray)

NHLRC1 SYNGAP1 KCTD7 SCN8A GRIN2B PRICKLE2 EPM2A CDKL5 (Mass Array)

(Mass Array)

NGSMGL(12/06/2017) NRXN1 NRXN1 TBC1D24 TBC1D24 LMNB2 SCN9A SCN9A HCN1 PRRT2 FOLR1 CERS1

Page 5 of 5 London Health Sciences Centre – Molecular Diagnostics Requisition for DNATesting Ph: 519-685-8122 |Fax: 519-685-8279 London, Ontario |N6A5W9 800 Commissioners Rd E. Victoria Hospital, Room B10-123A MOLECULAR GENETICS LABORATORY Hyperferritinemia –Individualselections Hyperferritinemia ALAS2, B2M,CDAN1,ALAS2, CP, FTH1,FTL,HAMP, HFE,HFE2,SEC23B,SLC25A38, SLC40A1, STEAP3, TF, TFR2 Hyperferritinemia Panel (15) HFE2 ALAS2

B2M SEC23B

(Available for research purposes only) SLC25A38 CDAN1

SLC40A1 CP

STEAP3 FTH1

TF FTL

Pathology and LaboratoryMedicine TFR2 HAMP

NGSMGL(12/06/2017) HFE HFE