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Inherited Disease


We offer sequencing of Illumina panel of 552 genes, including coding exons, intron-exon boundaries, and regions known to harbor pathogenic mutations, developed by Illumina in collaboration with Dr. Stephen Kingsmore and team at Children's Mercy Hospital (CMH) for Pediatric Genomic Medicine, Dr. Carol Saunders at CMH, and Dr. Hilger Ropers at the Max Planck Institute.
It enriches, through hybridization-based method, the following genes:
AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ACAD9, ACADL, ACADM, ACADVL, ACAT1, ACOX1, ACSL4, ADA, ADAMTS13, ADAMTSL2, ADCK3, AFF2, AGL, AGPS, AGTR2, AHI1, AIRE, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMT, ANTXR2, AP1S2, AP3B1, APTX, AR, ARHGEF6, ARHGEF9, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASS1, ATM, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCOR, BCS1L, BLM, BRWD3, BTD, BTK, C10orf2, CA2, CASK, CASP10, CBS, CD19, CD247, CD3D, CD3E, CD3G, CD40LG, CDH23, CDKL5, CEP290, CFP, CFTR, CHRNA1, CHRND, CHRNG, CLCN5, CLCN7, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, COG1, COG7, COG8, COL17A1, COL4A3, COL4A4, COL4A5, COL7A1, COQ2, COQ9, COX10, COX15, COX6B1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSTB, CTNS, CTSD, CTSK, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP21A2, CYP27A1, CYP27B1, DBT, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DKC1, DLD, DLG3, DLL3, DMD, DMP1, DNAJC19, DNMT3B, DOCK8, DOLK, DPAGT1, DPM1, DPYD, DSP, DYNC2H1, EDA, EDN3, EDNRB, EFEMP2, EFNB1, EGR2, EIF2AK3, ENPP1, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, F8, F9, FAH, FAM126A, FAM20C, FANCC, FAS, FASLG, FASTKD2, FBLN5, FERMT3, FGA, FGD1, FGD4, FH, FKRP, FKTN, FOLR1, FOXG1, FOXN1, FOXP3, FRAS1, FREM2, FTSJ1, FUCA1, G6PC3, G6PD, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GCSH, GDAP1, GDI1, GFM1, GJB2, GJC2, GLA, GLB1, GLDC, GLE1, GNPTAB, GNRHR, GPC3, GPR98, GRIK2, GSS, GTF2H5, GUSB, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBB, HESX1, HEXA, HEXB, HFE2, HGSNAT, HIBCH, HLCS, HMGCL, HPD, HPRT1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPG2, HUWE1, ICOS, IDS, IDUA, IFNGR1, IFNGR2, IFT80, IGHMBP2, IKBKAP, IKBKG, IL12B, IL12RB1, IL1RAPL1, IL1RN, IL2RG, INSR, INVS, IQCB1, ITGA6, ITGB4, IVD, JAK3, KCNJ1, KDM5C, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LARGE, LBR, LEPRE1, LHCGR, LHX3, LIFR, LIG4, LRP2, LRPPRC, LYST, MAN2B1, MBTPS2, MCOLN1, MECP2, MED12, MEFV, MFSD8, MGAT2, MID1, MKS1, MLC1, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPL, MPV17, MPZ, MRPS16, MRPS22, MTM1, MUT, MVK, MYD88, MYO5A, MYO7A, NAGLU, NAGS, NBN, NDP, NDUFA1, NDUFA7, NDUFAF2, NDUFAF4, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEU1, NEUROG3, NHEJ1, NHLRC1, NHS, NLGN4X, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR5A1, NSD1, NSUN2, NTRK1, NUP62, NXF5, OCRL, OFD1, OPA3, OPHN1, ORAI1, OSTM1, OTC, PAH, PAK3, PANK2, PC, PCCA, PCCB, PCDH19, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX26, PEX5, PEX7, PKHD1, PKLR, PLA2G6, PLCE1, PLDN, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POMGNT1, POMT1, POMT2, POR, POU1F1, PPT1, PQBP1, PRF1, PROP1, PRPS1, PRSS12, PRX, PSAP, PTEN, PTH1R, PYGM, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RELN, RFT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RPL10, RPS6KA3, RRM2B, SACS, SAMHD1, SBDS, SC5DL, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SEPN1, SFTPB, SFTPC, SGSH, SH2D1A, SHROOM4, SIL1, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC22A5, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC4A11, SLC6A8, SLC9A6, SMN1, SMPD1, SMS, SNAP29, SOX3, SP110, SRD5A2, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STIM1, STRA6, STX11, STXBP2, SUCLA2, SUCLG1, SUOX, SURF1, SYP, TAT, TAZ, TBCE, TCF4, TCIRG1, TGM1, TH, TIMM8A, TK2, TLR3, TMEM67, TNFRSF11B, TPP1, TRAPPC9, TREX1, TRIM37, TSEN54, TSFM, TSHB, TSPYL1, TTPA, TUBA1A, TUFM, TUSC3, TYK2, TYMP, UBA1, UBE2A, UBE3A, UBR1, UNC13D, UNC93B1, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VIPAR, VLDLR, VPS13B, VPS33B, WAS, WNT10A, WNT3, WNT7A, XIAP, XPA, XPC, ZDHHC9, ZEB2, ZIC3, ZMPSTE24, ZNF41, ZNF469, ZNF674, ZNF711, COL1A1, COL1A2, COL6A1, COL6A2, COL6A3, DOK7, G6PC, HIBCH, LMNA, OXCT1, UBE3A

If you would like to add few genes to this enrichment panel, just ask us.
We will be happy to satisfy your needs and support you.
For further information please fill out the form or write to info@galseq.com.