SALSA MLPA 試薬一覧 - falco-genetics.com

1 SALSA MLPA 2018 11 / ..P1 / ..P13 ..P15 ..P16 ..P20 ..P21 MLPA, MS-MLPA ..P22 / Kit Improved!ABCA4 ABCA4 ABCR P151/P152 P151 ABCA4 1 3 1 P152 ABCA4 2 2 ABCB4 ABCB4 MDR1 P109 ABCC6 ABCC6P092 ABCC8 ABCC8P117 ACADMACADMP465 CoA 11 985A>G ACADVL-SLC22A5 ACADVL, SLC22A5P076 -CoA VLCAD ADLTE-LGI1 ADAM22, GPR98,KCNA1, KCNA4,KCNAB1, LGI1,PDYNP408 AGSTREX1, RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1P388 AGXTAGXT, GRHPRP305 AGXT I244T( 7),C33_34insC( 1), G170R( 4) aHUSMCP, CFIP296 ALDOB-FBP1 ALDOB, FBP1P255 ALDOB 5 A149P, A174D New!

2 ALPLALPLP484 AlportCOL4A5P191/P192X P191 P192 COL4A5 Androgen receptorARP074 ANO5 ANO5P436 2L 5 APPAPP, For basicresearchARMD mix-1 CFH, CFHR3,CFHR2, CFHR1,KCNT2 P236 6 SNP CFH rs1061170 allele C,CFHrs1410996 allele A, ARMS2 (LOC387715)rs10490924 allele T, ARMS2 (LOC387715)rs10490924 allele G, C2/CFB locirs9332739 polymorphism rareallele/common allele ARVC-PKP2 PKP2, JUP, DSP,TGFb3, RYR2,DSG2, DSC2P168 ATMATMP041/P042 P041 P042 ATM ATP1A2-CACNA1 AATP1A2, CACNA1AP348 ATRXATRX, Xq13P013 AUTISM-115q11-q13, 16p11,SHANK3P343 BEST1-PRPH2 BEST1, PRPH2P367 AB1 Kit BTKBTKP210 BWS/RSSNSD1, H19, IGF2,CDKN1C, KCNQ1ME030 HhaI / ( ) CACNA1 ACACNA1AP279 CAHCYP21A2,CYP21A1P, TNXB,ATF6BP050 CanavanASPAP025 CAPN3 CAPN3P176 2A LGMD2A)

3 CASKCASKP398X MICPCH CASRCASRP177 Ca Ca CCMCCM1, CCM2, CCM3P130/P131 P130 P131 CDKL5 CDKL5, NTNG1,AXRP189 CFTRCFTRP091 CGDCYBB, NCF2,CYBA, NCF4P454 CHARGECHD7P201 CHARGE CHDGATA4, TBX5,NKX2-5, 22q11,BMP4, CRELD1P311 CHM-RP2-RPGRRPGR, RP2, CHMP366 CLCN1-KCNJ2 CLCN1, KCNJ2P350 Becker Thomse Andersen-Tawil CLCNKBCLCNKB, CLCNKAP266 CMT1 PMP22, COX10,TEKT3P033 1 1A CMT1 PMP22, COX10,TEKT3, GJB1, MPZ,ELAC2P405 1 1A/1B CMT2 RAB7A, GARS,HSPB1, HSPB8,SPTLC1P406 2 2B/2D/2F/2L CMT2A/1 BMFN2, MPZP143 1 1B 2 (2A)CMT4 GDAP1, MTMR2,SBF2, EGR2,SH3TC2, NEFL, PRXP353 4 Coffin LowryRPS6KA3, PQBP1P259 COL1A1 COL1A1P271 COL1A2 COL1A2P272 COL2A1 COL2A1P214 COL4A3 COL4A3P439 COL4A4 P444 COL4A4 COL4A4P444 COL4A3 P439 COL5A1 COL5A1P331/P332 I II BC2 Kit COL7A1-KRT5 COL7A1( ),KRT5( )P415 COL11A1 COL11A1P381/P382 P381 P382 COL11A1 CraniofacialTWIST, MSX2, ALX4,RUNX2, FGFR1,FGFR2, FGFR3 P080 Potocki-Shaffer CREBBPCREBBP, EP300P313 CTNSCTNSP473 CNTS >A CystinuriaSLC3A1, SLC7A9,PREPL P426 Improved!

4 Dandy-WalkerZIC1, ZIC4, VLDLR,FOXC1, SMARCA2P267 FOXC1 VLDLR 9 ZIC1 1 1 VLDLR, ZIC1, ZIC4, SMARCA2 7 2 DBARPL11, RPL5,RPL35A, RPS26,RPS17, RPS19P212 (Diamond-Blackfan anemia)DCLRE1 CDCLRE1C, MEIG1,DCLRE1 CPP368 Omenn DHCR7 DHCR7P457 Smith-Lemli-Opitz DiGeorgeChr22q11P250 VCFS) Chr22q11 30 DISSTRC, CATSPER2,CKMT1B, OTOAP461 - DMDDMDP034/P035 P034 P035 DMD DNAH5 DNAH5P238 DNAI1 DNAI1P237 DOCK8-STAT3 DOCK8, STAT3P385/P386 IgE P385 P386 Improved!DPYDDPYDP103 DPYD) 4 11 >G 14, 24 >G, >T DYSFDYSFP268 2B DystoniaTOR1A, THAP1,ATP1A3, PRKRAP059 TOR1A 5 GAG-deletion EDAEDA, EDAR,EDARADD, WNT10AP183 EDSTNXB, COL3A1,CYP21A2P155 III IV EOFADPSEN1, APP,PSEN2P471 EP300EP300P333 EVC/EVC2 EVC, EVC2P456 CDE3 Kit EYA1 EYA1P153 BOR EYSEYSP328 F5F5P469 V F8F8P178 AF9F7, F8, F9P207 BF10+F11F10, F11P440 X XI C FANCAFANCAP031/P032 P031 P032 FANCA FANCBFANCBP113 FANCD2-PALB2 FANCD2, PALB2P057 FGD1 FGD1P232 Aarskog-Scott FGF10-FGFR2 FGF10.

5 FGFR2P231 FHFHP198 fumarase deficiency FHLUNC13D, PRF1,STX11P028 FLCNFLCNP256 Birt-Hogg-Dube FLNBFLNBP435 I III Larsen FMR1/AFF2 FMR1, AFF2ME029 X / FOXF1 MYCN, FOXF1,FOXC2, FOXL1P431 FOXL2/TWISTTWIST, FOXL2,FOXC1, FOXC2,ATR, PITX2, OA1,PISRT1P054 Seckel X FOXP1-FOXP2 FOXP1, FOXP2P475 FRMD7 FRMD7P269 GAAGAAP453 II GALCGALCP446 GALC 4 1 GATA4 GATA3, GATA4P234 For basicresearchGBAGBAP338 GBA 55bp deletion, L444P GCH1-TH-SGCEGCH1, TH, SGCEP099 GHDGH1, PIT1, PROP1,GHRHR, LHX3,LHX4, HESX1P216 GHIGHR, JAK2, IGF1,STAT5BP262 Gitelman syndromeSLC12A3P136 Gitelman GJB1 GJB1P129X GJB-WFS1 GJB2, GJB3, GJB6,WFS1, POU3F4P163 Wolfram GLAGLAP159 GlycineEncephalopathyGLDC, AMT, GCSHP209 GFE4 Kit GNASGNAS, GNASXL,NESP55, NESPAS,STX16 ME031 / GonadalDevelopmentDisorderDMRT1, CYP17A1,SRD5A2, HSD17B3P334 GPC3-GPC4 GPC3, GPC4P154 Simpson-Golabi-Behmel GRIN2A GRIN2 BGRIN2A, GRIN2BP410 GRIN2A 2b GRIN2B 6 HBAHS-40, HBZ, HBZP,HBA1, HBA2P140 / Improved!

6 HBBHBB, HBD, HBE1,HBG1+2, HBBP1,HS1, HS2, HS3,HS4, HS5P102 HBD 1 1 HBG1+2 2 HBG1 1 HBB,HBD, HBG1,2 2 1 HemochromatosisHFE, TFR2, HFE2,HAMP, SLC40A1P347 HeterotaxysyndromeZIC3, CFC1,ACVR2B, NODALP434 Heterotaxy HEXAHEXAP199 HHT/PPH1 ENG, ACVRL1,BMPR2P093 HirschsprungRET, ZFHX1B,EDN3, GDNFP169 Hirschsprung-2 PHOX2B, GFRA3,GFRA2, GFRA1,EDNRB, NRTN,PSPN, SOX10P318 HPESHH, ZIC2, SIX2,SIX3, PTCH, TGIFP187 Holoprosencephaly HPRT1 HPRT1, PLAC1,PHF6P447 HSPSPG3A, SPG4P165 HSP2 REEP1, SPG7P213 HSP region mixSPAST, SPG6P211 IDSIDSP164 Hunter II IGF1 RIGF1R, IGFBP3P217 1 IGHMBP2 IGHMBP2P058 IKBKGIKBKG IKBKGP1 P073 IRF6-GRHL3 IRF6, GRHL3P304 Van der Woude JAG1 JAG1P184 Alagille Kallmann-1 ANOS1P132 Kallmann-2 FGFR1, GNRHR,GNRH1, KISSR1,NELFP133 KANSL1 KANSL1, CRHR1,MAPT ) KANSL1)

7 HIJKG5 Kit KCNQ2 KCNQ2P166 KCNQ3 KCNQ3, CHRNA4,EPM2A, EPM2b,CHRNB2P197 KDM6 AKDM6AP445 II MLL2 I P389 KIT SNAI2 KIT, SNAI2P354 KRT14, LAMA3, LAMB3, LAMC2P416 LAMA2 LAMA2P391/P392 P391 P392 LAMA2 LARGE, FKTN,POMT2 LARGE, FKTN,POMT2P326 Walker-Warburg LCA mix-1 AIPL1, CRB1, CRX,LCA5, RPE65P221 LCA mix-2 GUCY2D, RDH12,RPGRIP1, CEP290P222 1 SNP CEP290 +1655A->G +1655A->G LDLRLDLRP062 LIMB-1 GLI3, HOXD13,ROR2P179 E B LIMB-2 SALL1, SALL4,TBX5P180 Townes-Brocks Okihiro Holt-Oram LissencephalyPAFAH1B1, DCX,POMT1, POMGnT1,FLNA P061 Walker-Warburg muscle-eye-brain LMNA/MYOT/ZMPSTE24 LMNA, MYOT,ZMPSTE24, CAV3P048 LMNB1-PLP1-NOTCH3 LMNB1, PLP1,NOTCH3 P071 LMX1 BLMX1BP289 LPLLPL, INTS10,LC18A1P218I LQTKCNQ1, KCNH2,KCNE1, KCNE2P114QT LRP5 LRP5, DKK1,FZD4, NDPP285 MAPT-GRNMAPT, GRN, CRHR1P275 ( )MarfanFBN1, TGFBR2P065/P066 MECP2 MECP2, CDKL5,ARX, NTNG1, P015 MEF2C-FOXG1 MEF2C, FOXG1P395 MEFVMEFVP094 (FMF)

8 10 M694V LMK6 Kit MenkesATP7AP104 MID1 MID1P233 MLL2 MLL2P389 I KDM6A II P445 MODY mix-1 GCK, HNF1A,HNF1B, HNF4AP241 (MODY 1 3, 5)MODY mix-2 PDX1, HNF1B,NEUROD1, KLF11,CEL, PAX4, INSP357 (MODY 4, 6 10)MRKHTBX6, LHX1,HNF1B, TBX1P463 Mayer-Rokitansky-K ster-Hauser MTM1 MTM1P309 Multi-locusImprintingPLAGL1, MEST,H19, KCNQ1OT1,MEG3, SNRPN,PEG3, NESP55,NESPAS, GNASXL,GNASME034 Multi-locus Imprinting HhaI / ( ) MYBPC3 MYBPC3P100 MYH7 MYH7P418 MYH9 MYH9P432 MYH9 MYH9 2 17 >T, >T) 31 ( >C/A/T MYO5 BMYO5BP394 NCLPPT1, TPP1, CLN3,CLN6, CLN8P470 / NeurometabolicdisordersMLYCD, MLC1,L2 HGDH, D2 HGDH,ASPAP107 NIPBLNIPBLP141/P142 P141 P142 NIPBL NPC1-NPC2-SMPD1 NPC1, NPC2,SMPD1P193C (NPC)NPHP1 NPHP1P387 ( ) I IV NRXN1 NRXN1P379 Pitt-Hopkins II ObesityLEP, LEPR, POMC,SIM, MC4R, MC3R,MC2RP220 OCA2 OCA2, TYRP325 II OPA1 OPA1P229 I OTCOTCP079 PAHPAHP055 Improved!

9 PALB2-RAD50-RAD51C-RAD51 DPALB2, RAD50,RAD51C, RAD51DP260 RAD51C 2 RAD51D 2 PALB2 1 2 MNPO7 Kit PancreatitisPRSS1, PRSS2,SPINK1 P242 PANK2-PLA2G6 PANK2, PLA2G6P120 (NBIA)ParkinsonSNCA(PARK1),PARK2, UCHL1,PINK1, PARK7,LRRK2, GCH1,ATP13A2P051/P052 P051 P052 PAX3-MITF-SOX10 PAX3, MITF, SOX10P186 PAX6 PAX6P219 Peter Improved!PCCA-PCCBPCCA, PCCBP278 PCCB 3 PCDH15 PCDH15P292 PCDH19 PCDH19P330 EFMR PDHA1 PDHA1P427 Leigh Pendred/SLC26A4 SLC26A4P280 5,20,21 3 NPC1 G530A,C2932T,C3104T PHEXPHEX, FGF23P223X PKD1-PKD2 PKD1, PKD2P351/P352 PKHD1 PKHD1P341/P342 PKLRPKLRP203 PLCG2 PLCG2P430 PLOD1 PLOD1P359 VI PLP1 PLP1 P022 PLS3 PLS3P452 POLGPOLG, POLG2,C10orf2(PEO1),SLC25A4(ANT1)

10 P010 POLG PORPORP312 Porphyria-1 ALAD, HMBS, PPOXP411 ADP, AIP, VP Porphyria-2 FECH, UROS,UROD, CPOXP412 CEP, PCT, HCP, EPP PPARGPPARGP224II PrimaryMicrocephalyMCPH1, ASPM,CDK5 RAP2, CENPJ,STILP355 PROCPROCP265 C PROS1 PROS1, PROSPP112 PSEN1 PSEN1P254 PWS/ASSNRPN, UBE3A ME028 HhaI / ( ) P8 Kit RASA1 RASA1P409 Parkes Weber Recessive AtaxiasSETX, APTX, FXNP316 RetinitisPigmentosaRP1, RHO, IMPDH1,PRPF31P235 RYR1 RYR1P281/P282 33 C487T SACSSACS, SGCGP441 Charlevoix-Saguenay ARSACS SCN1 ASCN1AP137 SCN4A-CACNA1 SCACNA1S, SCN4AP397 SCN5 ASCN5AP108 QT SEPT9 SEPT9P307 SERPINA1 SERPINA1P459 1- SerpinC1 SerpinC1P227 III SERPING1-F12 SerpinG1, F12P243 SGCSGCA, SGCB,SGCD, SGCG, FKRPP116 SH2D1A-XIAP-ITKSH2D1A, XIAP, ITKP205 Duncan SHANK2 SHANK2P396 SHANK3 SHANK3, TCFL5,ARSA, ACR,RABL2BP339 SHOXSH