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| Panel Name, Specifity and genes Tested/covered |
 Liver Diseases Panel by next-generation sequencing (NGS).
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).
SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4 , (...)
View the complete list with 52 more genes
SCP2, SLC10A1, SLC10A2, SLC25A13, SLC27A5, SMPD1, HNF1A, HNF1B, TJP2, UGT1A1, VPS33B, NEUROG3, ABCG5, ABCG8, NPC2, INVS, DCDC2, HSD3B7, CFTR, NPHP4, GPBAR1, CLDN1, VIPAS39, PEX26, TMEM216, CTRC, TRMU, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, CC2D2A, EHHADH, EPHX1, FAH, ATP8B1, AKR1D1, ALDOB, ABCB11, ABCB4, AMACR, HSD17B4, ABCC2, JAG1, LIPA, ABCD3, MKS1, MPV17, MYO5B, NOTCH2, NPC1, NPHP1, NPHP3, NR1H4, ATP7B, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, SERPINA1, POLG, BAAT, PEX19, PEX2, PEX5
Specificity
2 %
Genes
100 %
|
 Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5
Specificity
1 %
Genes
100 %
|
Lysosomal and peroxisomal diseases (NGS panel of 109 genes).
By CGC Genetics (Portugal).
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST , (...)
View the complete list with 88 more genes
SC5D, SCP2, SGSH, SHOX, SLC17A5, SMPD1, TCIRG1, ACOX1, ACP2, MCOLN1, NPC2, ADAMTSL2, SUGCT, SCARB2, FIG4, SIAE, ATP6AP2, ATP6V0A2, HPS6, LYST, CLCN7, VIPAS39, SUMF1, TPP1, CLN3, CLN5, CLN6, CLN8, BLOC1S3, VMA21, PEX26, GNPTG, LMBRD1, MFF, CTNS, CTSD, CTSF, CTSK, FAR1, HGSNAT, MFSD8, DNASE1, GNPTAB, DNM1L, LAMTOR2, ATP13A2, ECM1, AGA, EHHADH, AGPS, AGXT, FUCA1, GAA, GALC, GALNS, GBA, GLA, GLB1, GNPAT, AMACR, GRN, GUSB, HEXA, HPS1, HSD17B4, HYAL1, IDH1, IDS, IDUA, IGF2R, AP3B1, LAMP2, LIPA, ABCD3, ABCD4, MAN2B1, MANBA, ARSA, ARSB, ASAH1, TRIM37, NAGA, NAGLU, NEU1, NPC1, ATP6V1B1, ATP6V1B2, ATP6V0A4, ATP6AP1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PHYH, PMVK, PPARG, CTSA, PPT1, PSAP, PEX19, PEX2, PEX5
Specificity
1 %
Genes
100 %
|
 Hereditary kidney disorders - different panels.
By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5 , (...)
View the complete list with 386 more genes
BCS1L, ROBO2, CNNM2, CFB, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SDHA, SDHB, SDHC, SDHD, BMP4, BMP7, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC12A3, SLC22A5, SLC25A13, SLC26A1, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A2, SLC7A7, SLC7A9, SLC9A3R1, SMARCAL1, SOX18, STX16, SUCLA2, SUCLG1, TALDO1, TBC1D1, TBX18, HNF1A, HNF1B, THBD, TNXB, TRPC6, TSC1, TSC2, CEP41, UMOD, UPK3A, UROD, VDR, VHL, VPS33B, WNT4, WT1, XDH, IKZF1, C3, ARL6, NEK8, NPHS2, SLC2A9, IFT122, ADAMTS13, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, CBS, IFT52, SALL4, TRAP1, CD19, MAGED2, TRIM32, BSND, ACTN4, SCARB2, ZNF423, CDC73, CFHR4, CFHR3, CD81, DICER1, PLCE1, RRM2B, LRBA, CDC5L, KAT6B, XPO5, SARS2, TNFRSF13C, CDKN1B, INVS, CEP83, SLC22A12, TRPM6, SLC22A10, SOX17, DCDC2, TNFRSF13B, MOCOS, SEC61A1, WDR19, HPSE2, IFT27, NUP205, CRB2, GRIP1, BBS7, SLC36A2, MMAA, COQ8B, NPHP4, CHD1L, KIF14, FRAS1, KANK1, MMAB, BICC1, SLC41A1, SBDS, CHRM3, EIF2AK4, EVC2, KIAA0586, GREM1, TTC8, TMEM260, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, CLDN10, CLDN16, CLDN19, APOPT1, LRIG2, SERAC1, SEC63, RMND1, IFT74, INPP5E, AHI1, WDR60, COL4A1, COL4A3, COL4A4, COL4A5, COX10, COX6B1, PEX26, LMBRD1, PDSS2, SLC16A12, ALG8, CR2, FREM1, INF2, B9D1, TACO1, TCTN3, MMACHC, DYNC2LI1, CFHR5, KANK3, CEP104, TMEM216, HOGA1, CTNS, MMADHC, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, CYP11B2, WDR73, CYP17A1, CYP24A1, SDHAF2, TMEM127, TCTN1, CSPP1, BBS10, BBS12, CEP120, ANKS6, TMEM138, KANK4, FLCN, SLC6A19, WDPCP, XPNPEP3, BBIP1, CCDC28B, WDR34, TMEM67, CCNQ, GLIS3, DGKE, DHCR7, B9D2, DIS3L2, MAGT1, IQCB1, NUP93, CEP290, DSTYK, KIAA0556, IFT140, FASTKD2, RPGRIP1L, FAN1, CEP164, TBC1D24, WDR35, CC2D2A, IFT80, KANK2, DMP1, GLIS2, MAPKBP1, DYNC2H1, IFT43, NUP107, BBS9, SLC26A3, IFT172, KIF7, STRA6, POC1B, SLC6A20, EGF, EHHADH, EIF2AK3, EMP2, ENPP1, AGTR1, AGTR2, COA5, AGXT, ETFA, ETFB, ETFDH, EVC, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FH, TMEM231, FN1, ALAD, FXYD2, G6PC, GALNT3, GALT, GANAB, GATA3, GCDH, GCM2, ALMS1, GLA, GLB1, GNAS, GRHPR, GUCY2C, HADHA, HADHB, CFH, CFHR1, CFHR2, HMBS, HMGCL, HNF4A, HPRT1, HRAS, HSD11B2, ICOS, CFI, IL21, ITGA3, ITGA8, APOL1, JAG1, JAK3, ANOS1, KCNA1, KCNJ1, KCNJ10, APRT, KCNJ5, KCNMB1, AQP2, KL, KLHL3, MAFB, LAMA5, LAMB2, LAMC1, LCAT, LIFR, ARG1, LMX1B, LRP2, LRP4, LRP5, LYZ, LZTFL1, ARHGDIA, ABCD4, MAGEC1, MAX, CD46, MEFV, MEN1, MET, MKKS, MKS1, MPL, MS4A1, ASL, MUC1, MMUT, MVK, MYH9, ASS1, MYO1E, NEK1, NF1, NF2, NFKB1, NFKB2, NOTCH2, NPC1, NPHP1, NPHP3, NPHS1, NR3C2, NRIP1, OCRL, OTC, ATP6V1B1, PAX2, PAX6, PCBD1, PCCA, PCCB, ATP6V0A4, ATP7B, PDE3A, PDE6D, PEX1, PEX10, PEX11B, PEX13, PEX14, PEX16, PEX3, PEX6, PEX7, PGAM2, PGK1, AUH, PHEX, AVPR2, PIK3CA, PKD1, PKD2, PKHD1, PMM2, ACAT1, PRKAR1A, PRKCSH, PRPS1, PTH1R, BBS1, BBS2, PTPRO, BBS4, BBS5, PEX19, PEX2, PEX5, PYGM, RAD51C, RBM8A, REN, RET
Specificity
1 %
Genes
100 %
|
EHHADH.
By Fulgent Genetics Fulgent Genetics (United States).
EHHADH
Specificity
100 %
Genes
100 %
|
KidneySeq - 264 Genes.
By Iowa Institute of Human Genetics University of Iowa (United States).
ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4 , (...)
View the complete list with 230 more genes
ROBO2, CNNM2, SALL1, ATXN10, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, BMP4, SEMA3E, SGPL1, SIX1, SIX2, SIX5, SLC12A1, SLC17A5, SLC2A2, SLC34A1, SLC3A1, SLC4A4, SLC5A1, SLC5A2, SLC7A9, SLC9A3R1, SLIT2, SMARCAL1, TBX18, HNF1B, TNFRSF1A, TNXB, TRPC6, TSC1, TSC2, CEP41, TTR, UMOD, UPK3A, VDR, VHL, VPS33B, WNT4, WT1, XDH, ZMPSTE24, ARL6, NEK8, NPHS2, SLC2A9, IFT122, CA2, CACNA1D, CACNA1H, ANLN, CD2AP, TMEM237, WNK1, WNK4, CASR, SALL4, TRAP1, CD151, MAGED2, TRIM32, NLRP3, BSND, ACTN4, SCARB2, ZNF423, PLCE1, SRGAP1, XPO5, SARS2, INVS, CEP83, SLC22A12, TRPM6, SOX17, KCTD1, ALG1, WDR19, IFT27, NUP205, CRB2, GRIP1, BBS7, COQ8B, NPHP4, CHD1L, KIF14, SLC41A1, GREM1, TTC8, CLCN5, COQ6, CLCNKA, CLCNKB, SLC34A3, VIPAS39, CLDN16, CLDN19, CHD7, ADCY10, IFT74, INPP5E, KIF12, AHI1, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, PDSS2, FREM1, CREBBP, DHTKD1, INF2, B9D1, TCTN3, C2CD3, TMEM216, HOGA1, CTNS, COQ2, ARHGAP24, FREM2, ARL13B, CUBN, CUL3, TTC21B, OFD1, TCTN2, CPLANE1, CYP11B1, WDR73, CYP24A1, TCTN1, CSPP1, BBS10, DACH1, BBS12, ANKS6, TMEM138, C8orf37, WDPCP, XPNPEP3, BBIP1, TMEM107, TMEM67, DGKE, DHCR7, B9D2, IQCB1, NUP93, DLC1, DLG1, CEP290, DSTYK, IFT140, RPGRIP1L, FAN1, CEP164, WDR35, CC2D2A, IFT80, DMP1, GLIS2, DYNC2H1, IFT43, NUP107, BBS9, IFT172, KIF7, E2F3, EGF, EHHADH, EMP2, ENPP1, AGTR1, AGXT, EYA1, FAH, FAT1, FGA, FGF20, FGF23, FGFR1, FN1, FOXP1, FXYD2, GATA3, GDNF, ALMS1, GLA, GLI3, GPC3, GRHPR, GSN, HNF4A, HPRT1, HSD11B2, CFI, APOE, ITGA3, ITGA8, ITGB4, APOL1, JAG1, ANOS1, KCNJ1, KCNJ10, APRT, KCNJ5, AQP2, KLHL3, LAMB2, LMNA, LMX1B, LYZ, LZTFL1, ARHGDIA, MEFV, MKKS, MKS1, MYH9, MYO1E, NEK1, NOTCH2, NPHP1, NPHP3, NPHS1, NR3C2, OCRL, ATP6V1B1, PAX2, PBX1, ATP6V0A4, ATP7B, PHEX, AVPR2, PKD1, PKD2, PKHD1, PMM2, B2M, BBS1, BBS2, PTPRO, BBS4, BBS5, RET
Specificity
1 %
Genes
100 %
|
You can check the following sources for additional information.
Fanconi Renotubular Syndrome 3; Frts3