Genomic Service List

Transcription

1 Document ID: MBG-C009 Effective Date: 10 Jan 018 Page: 1 of 5 WHOLE GENOME SEQUENCING Human Whole Genome Sequencing 1 HGG-15 Human Whole Genome Sequencing HGG-157 (FASTQ data only) WHOLE EXOME SEQUENCING Human Whole Exome Sequencing 1 HGE-16 Human Whole Exome Sequencing HGE-17 (FASTQ data only) INHERITED DISORDERS TARGETED PANELS HGT-18 HGT-19 HGT-130 HGT-131 HGT-133 Comprehensive Autism Panel Comprehensive Cardio-vascular Panel Comprehensive Cardio-myopathy Panel (incl. full bioinformatics analysis & report) Sudden Cardiac Arrest Panel Diabetes MODY Panel WGS (30x) WGS (30x) WES (<30X) WES 61 genes 9 genes 67 genes 613 genes 1 genes Whole Genome 1 EDTA Blood 30,000 Whole Genome 1 EDTA Blood 0,000 Whole exome of 5,000 genes 3 Whole exome of 5,000 genes 3 ADSL, AFF, ALDH5A1, AP1S, ARX, ATRX, BRAF, CACNA1C, CASK, CDKL5, CHD7, CHD8, CNTNAP, CREBBP, CYP7A1, DHCR7, DMD, EHMT1, FGD1, FMR1, FOLR1, FOXG1, FOXP1, FOXP, HPRT1, KDM5C, L1CAM, MAGEL, MBD5, MECP, MED1, MEFC, MID1, NHS, NIPBL, NLGN3, NLGN4X, NR1I3, NRXN1, NSD1, OPHN1, PAFAH1B1, PCDH19, PHF6, PNKP, PQBP1, PTCHD1, PTEN, PTPN11, RAB39B, RAI1, RELN, SCN1A, SLCA1, SLC9A6, SMARCB1, SMC1A, TCF4, UBEA, UBE3A, VPS13B ABCC9, ACTN, ANK, ANKRD1, BAG3, CACNA1C, DMD, DSG, DSP, KCNE, KCNH, LDB3, MYBPC3, MYH6, MYL3, MYPN, PKP, RYR, SCN5A, SOS1, TTN, TTR, VCL, FBN1, CHD7, NOTCH1, COL4A3, EHMT1, SMAD4 ABCC9, ACTC1, ACTN, ANKRD1, BAG3, BRAF, CALR3, CASQ, CAV3, CRYAB, CSRP3, CTNNA3, DES, DMD, DSC, DSG, DSP, DTNA, EMD, FHL1, FKTN, GAA, GATAD1, GLA, HRAS, JPH, JUP, KRAS, LAMA4, LAMP, LDB3, LMNA, MAPK1, MAPK, MYBPC3, MYH6, MYH7, MYL, MYL3, MYOZ, MYPN, NEBL, NEXN, NRAS, PDLIM3, PKP, PLN, PRKAG, PTPN11, RAF1, RBM0, RYR, SCN5A, SGCD, SLCA5, SOS1, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT, TPM1, TTN, TTR, VCL ANK, CASQ, CAV3, KCNE1, KCNE, KCNH, KCNJ, KCNQ1, RYR, SCN5A, CALM1, CALM3, KCND3 ABCC8, BLK, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1 8,000 6,600 5, MBG Lab recommends analysing relatives (proband plus parents; or siblings) to provide the most accurate interpretation of these s. MBG Lab P.O. Box 597, Dubai, UAE T: F: E: info@mbg.ae Web: :36PM

2 Document ID: MBG-C009 Effective Date: 10 Jan 018 Page: of 5 HGT-134 HGT-135 HGT-136 HGT-137 HGT-138 HGT-139 HGT-140 HGT-141 HGT-143 Comprehensive Epilepsy Panel Gastro-Intestinal Panel Mitochondrial Disorder Panel (Nuclear genes only) Mitochondrial Whole Genome Analysis (incl. full bioinformatics analysis & report) Congenital Muscular Dystrophy Panel LGMD Muscular Dystrophy Panel Neuro-Muscular Panel Cystic Fibrosis &Pulmonary Disease Panel Deafness Panel 64 genes 1 genes 35 genes 14 genes 30 genes 34 genes 54 genes 51 genes 3 genes ADSL, ALDH7A1, ARHGEF9, ARX, ATP1A, ATP6AP, CACNA1A, CASK, CDKL5, CHRNA, CHRNA4, CHRNB, CLN3, CLN5, CLN6, CLN8, CNTNAP, CSTB, CTSD, DNAJC5, EPMA, FOLR1, GABRA1, GABRG, GAMT, GOSR, GRINA, KCNJ10, KCNQ, KCNQ3, KCTD7, LGI1, MBD5, MECP, MEFC, MFSD8, NHLRC1, NRXN1, OPHN1, PCDH19, PHF6, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRRT, SCARB, SCN1A, SCN1B, SCNA, SCN8A, SLC5A, SLCA1, SLC9A6, SPTAN1, STXBP1, TBC1D4, TCF4, TPP1, TSC1, UBE3A, ZEB ABCB11, ABCB4, ABCC, ATP7B, BAAT, EPCAM, FAH, G6PC, JAG1, SLC10A, TJP, UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9, VIPAS39 ATPAF, BCS1L, COX10, COX15, COX4I, COX6B1, FASTKD, FOXRED1, LRPPRC, NDUFA1, NDUFA10, NDUFA11, NDUFA, NDUFAF1, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NUBPL, SCO1, SCO, SDHAF1, SURF1, TACO1, TMEM70, TTC19, UQCRB, UQCRQ MT-ATP6, MT-ATP8, MT-CO1, MT-CO, MT-CO3, MT-CYB, MT-ND1, MT-ND, MT- ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, MT-RNR CHKB, COL6A1, COL6A, COL6A3, FKRP, FKTN, ITGA7, LAMA, LMNA, RYR1, SEPN1, ACTA1, CFL, DAG1, DPM1, DPM3, ISPD, KBTBD13, LARGE, MEGF10, MTM1, NEB, POMGNT1, POMT1, POMT, SYNE1, TCAP, TNNT1, TPM, TPM3 ANO5, CAPN3, CAV3, DES, DMD, DYSF, FKRP, FKTN, GAA, LMNA, MYOT, POMGNT1, POMT1, POMT, SGCA, SGCB, SGCD, SGCG, TCAP, TRIM3, TTN, COL6A1, COL6A, COL6A3, DAG1, DNAJB6, EMD, FHL1, FLNC, GNE, ISPD, PLEC, SYNE1, VCP ACTA1, ANO5, BAG3, BIN1, CAPN3, CAV3, CFL, COL6A1, COL6A, COL6A3, CRYAB, DAG1, DES, DMD, DNM, DYSF, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GNE, IGHMBP, ISPD, ITGA7, LAMA, LARGE, LDB3, LMNA, MTM1, MYH7, MYOT, NEB, PLEC, POMGNT1, POMT1, POMT, PYGM, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, TCAP, TNNI, TNNT1, TPM, TPM3, TRIM3, TTN, VRK1 CFTR, SFTPB, ABCA3, ACVRL1, AP3B1, ASCL1, BDNF, BLOC1S3, BLOC1S6, BMPR, CCDC39, CCDC40, CSFRA, DNAAF1, DNAAF, DNAH11, DNAH5, DNAI1, DNAI, DNAL1, DOCK8, DTNBP1, EDN3, EFEMP, ELN, ENG, FBLN5, FLCN, GDNF, HPS1, HPS3, HPS4, HPS5, HPS6, LTBP4, NME8, PHOXB, RET, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SERPINA1, SFTPC, SFTPD, SMAD9, S3, TERT, TSC1, TSC CDH3, CLDN14, COL4A4, EDN3, GJB, HGF, LARS, LOXHD1, LRTOMT, MARVELD, MYO15A, MYO6, MYO7A, OTOF, PCDH15, POU4F3, PTPRQ, SCARF, SLC6A4, TMC1, UBIAD1, USHA, WFS1 0,600 MBG Lab P.O. Box 597, Dubai, UAE T: F: E: info@mbg.ae Web: :36PM

3 Document ID: MBG-C009 Effective Date: 10 Jan 018 Page: 3 of 5 HGT-144 HGT-145 HGT-146 HGT-147 HGT-148 HGT-149 HGT-151 HGT-150 Dysmorphic - Dysplasia Panel Endocrine Disorder Panel Metabolic Disorder Panel Neurological Disorder Panel Pelvic Inflammatory Disease Panel Renal Disease Panel Warfarin sensitivity Panel Visual Disorder Panel 6 genes 5 genes 40 genes 110 genes 9 genes 1 genes genes 80 genes EVC, EXT1, EZH, FBN1, FGFR, FGFR3, FKBP10, FREM1, GALNS, GNPAT, HGSNAT, HRAS, HSPG, IFT1, IRF6, KMTD, LEPRE1, LIFR, LMNA, MASP1, MGAT, MMP, NEK1, NF1, NFIX, NIPBL, NSD1, OBSL1, PCNT, PEX13, PYCR1, RIPK4, ROR, SERPINF1, SGSH, TCOF1, TMEM67, TNFRSF11B, UBR1, WISP3 BBS5, GHR, GHRHR, SHOX, TBCE ACADM, AMT, ARG1, ARSB, ASAH1, ASL, ASS1, BCKDHA, BCKDHB, BTD, CBS, CLN8, CPS1, DBT, DPAGT1, FAH, G6PC, GAA, GBA, GCDH, GLB1, GNS, H6PD, HSD3B7, IVD, LHGDH, MCCC, MMACHC, MMADHC, MUT, OXCT1, PAH, PEX1, PGM1, PHKG, PTS, PYGL, SLCA5, SLC37A4, SLC3A1 ABAT, ABCD1, ABHD1, ADCK3, ADK, ADRAB, AGRN, AHI1, ALS, ARFGEF, ARHGEF6, ARID1B, ARL13B, ARL14EP, ASPM, ATL1, ATN1, ATRX, C1orf57, C5orf4, CACNA1G, CAPN3, CASC5, CCDC88C, CDK5RAP, CDKL5, CENPJ, CEP57, CLN6, COG6, COL6A1, COL6A, COL6A3, CPA6, CYP7A1, DPYD, DYSF, ERLIN, FKRP, FKTN, FLVCR, FOXG1, GDAP1, GNE, HEPACAM, HEXA, HSD17B4, HUWE1, ISPD, KIAA0196, KIF1A, KIF7, L1CAM, LAMA, LARGE, LRPPRC, MCPH1, MECP, MED3, MFSD8, MPDZ, NDE1, NPC, NTRK1, OCLN, OPTN, PANK, PEX1, PEX1, PEX16, PEX6, PEX5, PEX6, PHGDH, PLAG6, PLP1, PNPO, POMT1, POMT, PSAP, RELN, RNASEHB, RNASEHC, RYR1, SCNA, SEPN1, SGCA, SGCB, SLC5A19, SOD1, SPG11, SPG0, SPTBN, STXBP1, SYNE, SYNGAP1, TCTN1, TMEM37, TMEM67, TRAPPC9, TRMT1, TUBA1A, TYMP, VAPB, WDR45B, WDR6, WDR81, WNK1, YARS, ZNF56 ADA, AICDA, AIRE, AK, ATM, BTK, CD47, CD40, CD40LG, COLEC11, CYBB, DCLRE1C, DNMT3B, DOCK8, FLG, IL7R, JAK3, LYST, MLPH, NCF, NHEJ1, PTPRC, RAB7A, RAG1, RAG, RFXANK, SLC17A5, S3, WAS C5orf4, CCDA, CEP90, COL4A4, COL4A6, FRAS1, IQCB1, LAMB, MKS1, NEK8, NPHP3, NPHP4, NPHS1, PKHD1, SLC4A4, SMARCAL1, TCTN, TMEM37, TMEM67, UPK3A, XDH CYPC9, VKORC1 ABCA4, ADAM9, AIPL1, ALMS1, ARL6, BBS1, BBS10, BBS, BBS4, BBS5, BBS7, BBS9, BEST1, C8orf37, CACNA1F, CDHR1, CEP90, CERKL, CHD7, CHM, CHST6, CNGA3, CNGB1, CNNM4, CRB1, CRX, CRYAA, CRYBA1, CRYGC, CRYGD, CYP1B1, EFEMP1, EPHA, EYS, FAM161A, FZD4, GALT, GCNT, GDF3, GPR179, GUCYD, IGFBP7, IMPG, KCNJ13, KCNV, LCA5, LRAT, LRP5, LTBP, MERTK, MFRP, MIP, MYO7A, NHS, NMNAT1, NPHP4, NRE3, PAX6, PDE6C, PROM1, PRPH, PRSS56, RAB3GAP1, RAB3GAP, RDH1, RGS9, RLBP1, RP1, RP1L1, RP, RPE65, RPGRIP1, SLC16A1, SLC4A11, SNRNP00, SPATA7, TRPM1, TULP1, USHA, WDR19,600 5,600, MBG Lab P.O. Box 597, Dubai, UAE T: F: E: info@mbg.ae Web: :36PM

4 Document ID: MBG-C009 Effective Date: 10 Jan 018 Page: 4 of 5 INHERITED CANCER PANELS Inherited Breast Cancer Panel HGC-15 HGC-153 Comprehensive Inherited Cancer Panel SOLID TUMOUR PANELS Somatic Cancer Panel (15 genes) HGC-154 HGC-155 HGC-156 Somatic Cancer Panel (6 genes) Somatic Cancer Panel (170 genes including amplification & fusion genes) SINGLE NUCLEOTIDE POLYMORPHISM ARRAYS 6 genes 56 genes 15 genes 6 genes 170 genes HGA-158 Human Whole Genome SNP Array N/A BRCA1, BRCA, CDH1, PALB, PTEN, TP53 ALK, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA, BRIP1, BUB1B, CDC73, CDH1, CDK4, CDKNA, CHEK, FH, FLCN, GPC3, MAX, MEN1, MET, MLH1, MRE11A, MSH, MSH6, MUTYH, NBN, NF, PALB, PHOXB, PMS, POLD1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51C, RAD51D, RET, SDHAF, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, SUFU, TMEM17, TP53, TSC1, TSC, VHL, WT1, XRCC AKT1, BRAF, EGFR, ERBB, FOXL, GNA11, GNAQ, KIT, KRAS, MET, NRAS, PDGFRA, PIK3CA, RET, TP53 AKT1, ALK, APC, BRAF, CDH1, CTNNB1, EGFR, ERBB, FBXW7, FGFR, FOXL, GNAQ, GNAS, KIT, KRAS, MAPk1, MET, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SRC, STK11, TP53 ABL1, AKT1, AKT, AKT3, ALK, APC, AR, ARID1A, ATM, ATR, AXL, BAP1, BARD1, BCL, BCL6, BRAF, BRCA1, BRCA, BRIP1, BTK, CARD11, CCND1, CCND3, CCNE1, CDK4, CDK6, CHEK1, CHEK, CSF1R, EGFR, EML4, ERBB, ERBB3, ERBB4, ERCC1, ERCC, ERG, ESR1, ETS1, ETV1, ETV4, ETV5, EWSR1, EZH, FAM175A, FANCI, FANCL, FBXW7, FGF1, FGF10, FGF14, FGF19, FGF, FGF3, FGF3, FGF4, FGF5, FGF6, FGF7, FGF8, FGF9, FGFR1, FGFR, FGFR3, FGFR4, FLI1, FLT1, FLT3, FOXL, GEN1, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, IDH, INPP4B, JAK, JAK3, KDR, KIF5B, KIT, KMTA, KRAS, LAMP1, MAPK1, MAPK, MCL1, MDM, MDM4, MET, MLH1, MLLT3, MPL, MRE11A, MSH, MSH3, MSH6, MTOR, MUTYH, MYC, MYCL1, MYCN, MYD88, NBN, NF1, NOTCH1, NOTCH, NOTCH3, NPM1, NRAS, NRG1, NTRK1, NTRK, NTRK3, PALB, PAX3, PAX7, PDGFRA, PDGFRB, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PIK3R1, PMS, PPARG, PPPRA, PTCH1, PTEN, PTPN11, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RB1, RET, RICTOR, ROS1, RPS6KB1, SLX4, SMAD4, SMARCB1, SMO, SRC, STK11, TERT, TET, TFRC, TMPRSS, TP53, TSC1, TSC, VHL, XRCC Various human SNP arrays includingloss-of-function variants, Pharmacogenomic markers, Inflammation and HLA markers, Copy number variants and other markers associated with human disease. Please contact MBG Lab for full details EDTA Blood 3,000,600 3,000 6,000 Contact MBG Will be available shortly. Contact MBG MBG Lab P.O. Box 597, Dubai, UAE T: F: E: info@mbg.ae Web: :36PM

5 Document ID: MBG-C009 Effective Date: 10 Jan 018 Page: 5 of 5 Sample Details: EDTA blood: Fresh Tissue: : : >.5ml of blood in EDTA tube >50mg tissue in saline dampened gauze to be received within hours of operation; or snap frozen in liquid nitrogen within hours of operation and stored below -70 o C. Transport on dry ice. 5x10um sections selected by a pathologist to contain >50% viable tumour (avoid necrotic areas). Do not eat / drink for >1hour before collection. Rub swab inside the mouth with firm pressure for 1min. Place in the collection tube, seal and store between -0 o C to 5 o C. Transport within 48 hours. Notes: The Turn-around times () indicated are only inclusive of working. Samples delivered before 11:00am will begin processing immediately resulting in shorter turnaround times. The prices listed are per, please contact MBG for a discount if more than one is being requested. For other s not listed on the service list above please contact the MBG Lab for further information. Please refer to MBG-C14 Sample Collection, storage and transport guidelines. MBG Lab P.O. Box 597, Dubai, UAE T: F: E: info@mbg.ae Web: :36PM