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 Date drawn: RefSeq:NM: Gene: Relationship to thispatient: 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
INCOMPLETE REQUESTS WILLBEBANKED Patient Information: Referring Physician: Test Requests: Request for Expedited Result:
AUTHORIZED SIGNATURE ISREQUIRED Telephone: Telephone: Address: Name: E-mail address: Address: Signature: Physician name(print): adjacent to theitem of interest. panelssub- orindividualgenes maybeselected usingthecheckbox Use attached menuto select panels orindividualgenes. Panels, CC report to: Medical intervention Sex: Address: Birthdate: Name: Health Card Number: Pregnancy Male
(L.M.P., (L.M.P., Female YY/MM/DD) (specify with date): with (specify Pathology and LaboratoryMedicine : Fax: Fax:
NGSMGL(12/04/2017)
Page 2 of 5 London Health Sciences Centre – Molecular Diagnostics Patient Information: FOR SAMPLEREQUIREMENTS SEE: 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: PTEN (incl.5’UTR),SDHB,SMAD4,STK11, TP53 APC (incl.5’UTR),BMPR1A,CDH1,CDK4,CHEK2,CTNNA1, EPCAM,FLCN, GREM1,MLH1(incl.5’UTR),MSH2,MSH3, MSH6, MUTYH, NTHL1,PMS2,POLD1,POLE, Hereditary Cancer -Colorectal/Gastric Cancer (23) 5’UTR), RAD51D, RAD51C, STK11, TP53 ATM, BARD1,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,EPCAM,FANCC, FANCM, HOXB13, MEN1,MLH1(incl.5’UTR),MSH2,MSH6,NBN,PALB2, PMS2,PTEN (incl. Hereditary Cancer -Breast/Ovarian (23) 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,NTHL1,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, Hereditary Cancer -Comprehensive (37) 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) TRPV4 TRPV4 PDK3 LRSAM1 GDAP1 AARS NBN GREM1 CDK4 APC RAD51D
(incl. 5’UTR)
TTR PMP22 MARS GJB1 AIFM1 SDHB NTHL1 HOXB13 CDKN2A ATM
(if patient meets OBSP criteria, please use provincial cancer requisition) cancer provincial use please criteria, OBSP meets patient (if
SMAD4 PALB2 MEN1 CHEK2 BARD1 PRPS1 MED25 HSPB1 DNAJB2
http://www.lhsc.on.ca/lab/molegen/index.htm PRX MFN2 HSPB8 DYNC1H1 STK11 PMS2 MLH1 CTNNA1 BMPR1A (incl. 5’UTR)
Birthdate: RAB7A MPZ IGHMBP2 EGR2 TP53 POLD1 MSH2 EPCAM BRCA1
SBF2 MTMR2 KIF1B FGD4 POLE MSH3 FANCC BRCA2
Pathology and LaboratoryMedicine SH3TC2 NDRG1 LITAF FIG4 PTEN MSH6 FANCM BRIP1
(incl. 5’UTR) SPTLC1 NEFL LMNA GARS RAD51C MUTYH FLCN CDH1 NGSMGL(12/04/2017)
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 (Tumour FFPE samples only) samples FFPE (Tumour genes: encoded Nuclear genes: encoded Mitochondrial Mitochondrial Genome andDepletion andIntegrity -Individualselections Urea Cycle Disorders -Individualselections Lysosomal Storage Disorders -Individualselections Cancer Hotspot Panel v2 Mitochondrial GenomeandDepletion/Integrity Panel Urea Cycle Disorders Lysosomal Storage Disorders TRNG, TRNH,TRNI,TRNK,TRNL1,TRNL2,TRNM,TRNN,TRNP,genes: TRNQ,TRNR,TRNS,TRNS2,TRNT, TRNV, TRNW, TRNY 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) 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,PPT1, 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) SUCLA2, SUCLG1,SUCLA2, TK2,TWNK,TYMP genes: encoded Nuclear ERAS (KRAS, NRAS) TK2 OPA3 APTX TRNS2 TRNL1 TRNC ND3 ATP6 OTC ARG SUMF1 NEU1 LAMP2 GRN GALNS CTNS AGA
(isoform A&B) TWNK POLG DGUOK TRNT TRNL2 TRND ND4 ATP8 SLC25A2 ASL TPP1 NPC1 LIPA GUSB GBA CTSA ARSA
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) TRNM TRNE ND4L COX1 SLC25A13 ASS1 NPC2 MAN2B1 HEXA GLA CTSD ARSB BRAF TYMP POLG2 DNA2 TRNV
PPT1 MANBA HEXB GLB1 CTSK ASAH1 RRM2B FBXL4 TRNW TRNN TRNF ND5 COX2 SLC25A15 CA5A EGFR EGFR
PSAP MCOLN1 HGSNAT GM2A DNAJC5 CLN3 FULL screen SLC25A4 GFER TRNY TRNP TRNG ND6 COX3 SLC7A7 CPS1
(2800 COSMIC mutations, research only) SGSH SGSH MFSD8 HYAL1 GNPTAB FUCA1 CLN5 SPG7 MGME1 TRNQ TRNH RNR1 CYTB GLUD1
(isoform A&B)
Pathology and LaboratoryMedicine SLC17A5 NAGA IDS GNPTG GAA CLN6 SUCLA2 MPV17 TRNR TRNI RNR2 ND1 GLUL
SUCLG1 OPA1 TRNS TRNK TRNA ND2 NAGS SMPD1 NAGLU IDUA GNS GALC CLN8 NGSMGL(12/04/2017)
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 JAK2-p.V617F CFTR -Cystic Fibrosis -70mutation screen T-Cell Clonality(Lymphoma) B-Cell Clonality(Lymphoma) BCR-ABL SPTLC1 SCN4A RET TP53 NOTCH3 MEN1 MECP2 GJB2 (CX26) /GJB6(CX30) ACADM 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 SLC2A1 PSAT1 PCDH19 MBD5 KCNC1 FOXG1 CHD2 ALDH7A1
- MultipleEndocrineNeoplasiaType 2/FMTC - Li-Fraumeni Syndrome
- MultipleEndocrineNeoplasiaType 1
- Paramyotonia Congenita - - RETTSyndrome (Available for research purposes only)
- Hereditary Sensory Neuropathy- Hereditary Sensory
Medium Chain Acyl CoADehydrogenaseMedium ChainAcyl (MCAD) - CADASIL - CMLminimalresidual disease (quantitative RT-PCR)
- Myeloproliferative disorders (quantitative PCR) TSC1 SLC6A8 PSPH PHGDH MECP2 KCNJ10 GAMT CHRNA7 AMT
(includes deletion/duplication analysis)
- Recessive Deafness
(fragment analysis) (fragment analysis) TSC2 SLC9A6 SCARB2 PLCB1 MEF2C KCNJ11 GATM CNTNAP2 ARX
(Mass Array) UBE3A SPTAN1 SCN1A PNKP MOCS1 KCNQ2 GLDC CSTB ASAH1 (includes deletion/duplication analysis)
tissue contamination studies (fragment analysis) MCC/Identity testing HFE F5 F2 ARG1 OTC CLN3 CLN2 CTNS ARSA NPC2 NPC1 -Factor VLeiden (F5:p.R534Q) -Prothrombin G20210A(F2:c.97G>A) -Hemochromatosis p.C282Y andp.H63D ZEB2 STXBP1 SCN1B PNPO NECAP1 KCNQ3 GOSR2 DNM1 ATP1A2
- OrnithineTranscarbamylase
-Arginase Deficiency
- Metachromatic Leukodystrophy - Batten Disease - Batten Disease - Niemann-PickDisease 1 - Cystinosis - Niemann-PickDisease 2
SUOX SCN2A POLG NEU1 KCNT1 GRIN2A DOCK7 ATP1A3
- Maternal cell contamination/
Pathology and LaboratoryMedicine (MassArray)
SYNGAP1 SCN8A PRICKLE2 NHLRC1 KCTD7 GRIN2B EPM2A CDKL5 (Mass Array)
(Mass Array)
NGSMGL(12/04/2017) TBC1D24 TBC1D24 SCN9A PRRT2 NRXN1 LMNB2 HCN1 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
SEC23B B2M
(Available for research purposes only)
SLC25A38 CDAN1
SLC40A1 CP
STEAP3 FTH1
TF FTL
Pathology and LaboratoryMedicine TFR2 HAMP
NGSMGL(12/04/2017) HFE HFE