Disease Gene Test
code OMIM Gene
S D R H C P
Protein S Deficiency, autosomal dominant PROS1 1116 176880
S D P*
Pseudohypoaldosteronism type 2D KLHL3 377 605775
S D P*
Pseudohypoaldosteronism type 2E CUL3 802 603136
S D P*
Pulmonary hypertension, primary type BMPR2 2290 600799
S D P*
Pulmonary venoocclusive disease type 1 BMPR2 2290 600799
S D P*
Sneddon syndrome CECR1 2256 607575
S D P*
Stormorken syndrome STIM1 2391 605921
S D P*
Supravalvar aortic stenosis ELN 2271 130160
S D P*
Transposition of the great arteries, dextro-looped 1 MED13L 2912 608771
S D P*
Vascular system defects due to CALCRL deficiency CALCRL 2612 114190
S D P*
Vascular system defects due to GNA13 deficiency GNA13 755 604406
S D P*
› Liver, Kidney and Endocrinological Diseases - Panels
Panel name Genes Deletion / duplication testing
(genes analyzed) Test
code
S D R H C P
Atypical hemolytic uremic syndrome panel ADAMTS13, C3, CD46, CFB, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, DGKE,
PIGA, THBD CFH, CFHR1, CFHR2, CFHR3, CFHR5 5202
S D P*
Bardet Biedl panel
ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CCDC28B, CEP290, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP
5003
S P*
Bartter Syndrome panel
ATP6V1B1, BSND, CA2, CASR, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2, HSD11B2, KCNJ1, KCNJ10, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SL-C12A3, SLC4A1, SLC4A4, WNK1, WNK4
SLC12A3, CLCNKA, CLCNKB, CASR 5089
S D P*
Congenital adrenal hyperplasia panel CYP21A2, CYP17A1, CYP11B1, HSD3B2, POR,
STAR CYP17A1, POR 5271
S D P*
Focal Glomerulonephrosis panel ACTN4, CD2AP, INF2, NPHS1, NPHS2, TRPC6,
WT1 WT1 5205
S D P*
Intrahepatic cholestasis panel ABCB11, ABCB4, ATP8B1, UGT1A1 ABCB4 5267
S D P*
Kallmann syndrome/Gonadotropin-releasing hormone deficiency panel
CHD7, FGF8, FGFR1, GNRH1, GNRHR, HESX1, KAL1, KISS1, KISS1R, PROK2, PROKR2, SE-MA3A, TAC3, TACR3
CHD7, FGFR1, GNRH1, GNRHR, HESX1, KAL1, KISS1R, PROK2,
PROKR2 5051
S D P*
Maple syrup urine disease panel BCKDHA, BCKDHB, DBT, DLD 5068
S P*
Meckel syndrome panel MKS1, TMEM216, TMEM67, CEP290, RPGRI-P1L, CC2D2A, NPHP3, TCTN2, B9D1, B9D2,
TMEM231 5220
S P*
Nephronophthisis panel NPHP1, INVS, NPHP3, NPHP4, ANKS6, IQCB1, CEP164, CEP290, GLIS2, RPGRIP1L, NEK8,
SDCCAG8, ZNF423 NPHP1 5041
S D P*
Nephrotic syndrome panel ARHGDIA, DGKE, LAMB2, NPHS1, NPHS2,
PLCE1, WT1 WT1 5096
S D P*
Pancreatitis panel CFTR, CPA1, CTRC, PRSS1, SPINK1 SPINK1, CFTR, PRSS1 5002
S D P*
Polycystic kidney panel BICC1, PKD1, PKD2, NOTCH2, PKHD1 PKD1, PKD2, PKHD1 5053
S D P*
Pseudohypoaldosteronism panel CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A,
SCNN1B, SCNN1G, WNK1, WNK4 5269
S P*
› Liver, Kidney and Endocrinological Diseases - Large Extended Screening Panels
Panel name Genes Test
code
L P
CentoICU platinum AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9, AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3, ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65, C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3, CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15, CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH, DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3, ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2, GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1, MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2, NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22, PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1, SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13, SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6, SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL, STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA, TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5288
L P*
Panel name Genes Test
code
L P
CentoICU platinum plus AARS2, AASS, ABAT, ABCA12, ABCA3, ABCC2, ABCC8, ABCD4, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ACTN1, ADA, ADAMTS13, ADK, ADSL, AGA, AGL, AGXT, AHCY, AICDA, AIFM1, AKAP9, AKR1D1, AKT2, ALAS2, ALDH3A2, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALMS1, ALOX12B, ALOXE3, ALPL, AMT, ANK1, ANKRD26, APOC2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASPM, ASS1, ATP6V1B1, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, BCKDHA, BCKDHB, BCKDK, BCS1L, BDNF, BLNK, BRAF, BRCA2, BSND, BTD, BTK, C12orf65, C15orf41, CABS1, CACNA1C, CACNA1D, CACNB2, CALM1, CARD11, CASK, CASR, CBS, CD19, CD247, CD320, CD3D, CD3E, CD3G, CD40, CD40LG, CD79A, CD79B, CD81, CDAN1, CDK5RAP2, CDKL5, CENPJ, CEP152, CEP290, CERS3, CFTR, CHD7, COA5, COL11A1, COL17A1, COL1A1, COL1A2, COL7A1, COMP, COMT, COQ2, COQ9, CORO1A, COX15, CPS1, CPT1A, CPT2, CR2, CRTAP, CSTB, CTNS, CTPS1, CTSA, CTSD, CYP11B1, CYP11B2, CYP17A1, CYP4F22, D2HGDH, DBT, DCLRE1C, DDC, DHCR7, DLAT, DLD, DNA2, DNAJC19, DOCK8, DOLK, DUOX2, DUOXA2, EDN3, EGR2, EIF2AK3, ELANE, EPB42, EPM2A, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EYA1, EYA4, F10, F11, F13A1, F2, F5, F7, F8, F9, FAH, FANCA, FANCB, FANCC, FANCD2, FBN1, FBP1, FGA, FGB, FGFR2, FGG, FH, FKTN, FOXG1, FOXRED1, FRAS1, FUCA1, G6PD, GAA, GALC, GALE, GALK1, GALNS, GALT, GAMT, GATA1, GATA3, GATM, GBE1, GCDH, GCH1, GCK, GFI1B, GJB2, GK, GLA, GLB1, GLDC, GLIS3, GLYCTK, GNA11, GNAS, GNE, GNMT, GNPTAB, GP1BA, GP9, GPC3, GPHN, GPR98, GPSM2, GSS, GUSB, GYS2, HADH, HADHA, HADHB, HBB, HESX1, HEXA, HEXB, HGD, HIBCH, HLCS, HMGCL, HMGCS2, HNF1A, HNF1B, HNF4A, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSD3B2, ICOS, IER3IP1, IGF1, IGF1R, IGLL1, IKBKB, IL12RB1, IL2, IL21R, IL2RA, IL2RG, IL7R, INS, INSR, IRF8, ITGA2B, ITGA6, ITGB3, ITGB4, IVD, JAG1, JAGN1, JAK3, KCNE1, KCNH2, KCNJ10, KCNJ11, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KDM6A, KLF1, KMT2D, KRAS, KRT5, LAMA2, LAMA3, LAMB3, LAMC2, LAMTOR2, LCK, LEPRE1, LHX3, LHX4, LIAS, LIG4, LIPA, LIPN, LMBRD1, LRBA, LRPPRC, LRRC8A, MAGT1, MALT1, MAN2B1, MAP2K1, MAP2K2, MASTL, MAT1A, MCCC1, MCCC2, MCM4, MCPH1, MECP2, MEF2C, MITF, MKKS, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MPC1, MTHFR, MTR, MTRR, MUT, MVK, MYCN, NAA10, NAGS, NDUFA11, NDUFA2, NDUFAF1, NDUFAF2, NDUFAF5, NDUFAF6, NDUFS2, NDUFS4, NDUFS7, NDUFV2, NEU1, NFKB2, NFU1, NHEJ1, NHLRC1, NIPAL4, NIPBL, NOTCH2, NPC1, NPC2, NR0B1, NRAS, NSD1, OAT, OGDH, OPA3, OPLAH, OPRM1, OTC, OXCT1, P2RX1, P2RY12, PAH, PAX2, PAX3, PAX8, PC, PCBD1, PCCA, PCK1, PCNT, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDX1, PEPD, PET100, PHGDH, PHOX2B, PIK3CD, PKD2, PKHD1, PKLR, PLEC, PLOD1, PMM2, PMP22, PNP, PNPLA1, PNPO, PNPT1, POLG, POMC, POMT1, POMT2, POU1F1, PPM1K, PRKAG2, PRKDC, PRODH, PROP1, PROS1, PRPS1, PSAP, PSAT1, PSEN1, PSPH, PTF1A, PTPN11, PTPRC, PTS, QDPR, RAB18, RAB3GAP1, RAB3GAP2, RAC2, RAF1, RAG1, RAG2, RB1, RBBP8, RBM8A, RET, RMRP, RPS19, RPS6KA3, SALL1, SALL4, SBDS, SCN1A, SCN2A, SDHAF1, SERAC1, SERPINA1, SERPINC1, SERPING1, SFTPB, SFTPC, SFTPD, SHOC2, SIX1, SIX5, SLC16A1, SLC22A5, SLC25A1, SLC25A13, SLC25A19, SLC25A20, SLC26A2, SLC2A1, SLC37A4, SLC3A1, SLC46A1, SLC4A1, SLC52A1, SLC5A5, SLC7A7, SLC9A6, SLCO1B1, SLCO1B3, SMPD1, SOS1, SOX2, SOX6, SPINK1, SPR, SPRED1, SPTA1, SPTAN1, SPTB, ST3GAL5, STAR, STIL, STIM1, STS, STXBP1, SUCLA2, SUCLG1, SUGCT, SUMF1, SUOX, TAT, TAZ, TBX19, TBX5, TCF4, TCN2, TG, TGM1, THRA, TJP2, TNFRSF13B, TNFRSF13C, TPO, TRHR, TRMU, TSC1, TSC2, TSHB, TSHR, TSPYL1, UBE3A, UCP2, UGT1A1, UMPS, UNG, UPB1, UQCC2, UQCRC2, UROS, WAS, WDR62, WFS1, WNK1, WT1, ZAP70, ZEB2
5289