Behcet Syndrome

Description

Behçet's disease (BD) is a chronic, relapsing, multisystemic vasculitis characterized by mucocutaneous lesions, as well as articular, vascular, ocular and central nervous system manifestations.

Genes related to Behcet Syndrome

CAT
ITGAL
ITGB2
FAS
CXCL8
APOA1
APOB
IL10
TFCP2L1
PSTPIP1
PSORS1C1
STAT4
IL23R
ERAP1
SERPINE1
HLA-B
CCR1
IL12A-AS1
NOD2
TLR4
IL12A
KLRC4
MEFV
KLRC4-KLRK1
ADA2
UBAC2
TNFRSF1A
ICAM1
C4A

Clinical Features

Top most frequent phenotypes and symptoms related to Behcet Syndrome

Seizures
Ataxia
Cataract
Hyperreflexia
Splenomegaly
Gait disturbance
Fever
Blindness
Renal insufficiency
Behavioral abnormality

And another 68 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

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Behcet Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis. By Baylor Miraca Genetics Laboratories in United States. GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2 , (...) View the complete list with 617 more genes Panel GTR000508280 complete gene list GSN, NEFH, SOD1, TEAD1, PHB, PLA2G2A, AKAP10, PNKD, PAX2, CPOX, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, NYX, FRMD7, OTC, RP2, PRPF8, AGPS, PRPF31, PUS1, D2HGDH, CA4, PITPNM3, ALG3, STRA6, MYO7A, RNASEL, PPARGC1B, UCP3, UCP1, GJA3, PHOX2A, SQSTM1, GUCA1A, ETHE1, MPI, EYS, TYMP, ALG6, GAD1, SLC35A1, RIMS1, SCO2, LCA5, TAP1, CISD2, C1QTNF5, DMGDH, AMT, GLDC, GCSH, PINK1, HMGCS2, PCCA, PCCB, PARK7, GLUD1, B4GALT1, ALG12, SPG7, COQ2, UCP2, NDUFA13, GRN, ALG2, FSCN2, ALG8, UNG, AP3B1, MEF2A, CERKL, RGS9, ALG1, ATIC, ALG9, COG7, PDP1, DPM1, HADHB, FLVCR1, GFM1, MPDU1, PLOD2, IQCB1, SLC25A22, TK2, SECISBP2, TOPORS, ACADSB, CTSD, POLG2, DNAJC19, REEP1, ALDH2, SEMA4A, HTRA2, KCNV2, SNRNP200, CABP4, GNAT1, CACNA2D4, MRPS16, TSFM, PRCD, RD3, TUFM, CRTAP, PNPLA2, HAX1, SLC25A3, P3H1, TUSC3, DARS2, COG8, COG1, ACAD8, RARS2, GYS1, TUBA1A, MRPS22, CYCS, RFT1, COQ8A, SUCLA2, STXBP1, SLC9A3R1, SLC39A13, SDHB, PLOD3, RPL35A, AK1, SOD2, RDH12, COX4I2, SPR, GATM, GAMT, ADAM9, ENO3, LDHA, PGM1, DPM3, KLHL7, SLC25A12, TMEM126A, TLR3, PHKG2, GFER, PDE6C, ABAT, TRPM1, TSPAN12, CAVIN1, LRAT, GRK1, PCARE, GCKR, GPI, IMPG2, CNGA1, CYP24A1, G6PC, PYGL, NUBPL, NDUFA10, TAT, FAM161A, FYCO1, XPNPEP3, MTPAP, MSRB3, GNAT2, TTC19, HSD3B2, CCDC28B, HMGCL, NDUFAF1, PCK2, FAH, PHKA2, RS1, NFU1, CNGB1, RGR, CCDC39, PDE6A, GUCA1B, SLC24A1, SARS2, SP7, DHDDS, MERTK, SERPINF1, PRPF6, HAGH, TMEM70, ACAT2, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HP, CAT, ALDH6A1, PDHB, LDHB, DIABLO, GPX1, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, GOT1, ALDH18A1, AGK, COX14, NDUFA9, GPD1, NDUFB3, LIAS, C8orf37, HARS, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, CYP4V2, PPP2R1B, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, CNGA3, SLC3A1, COX6B1, FASTKD2, LRPPRC, GLYCTK, FXN, GALK1, GALE, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, HK1, CBS, L2HGDH, NAGS, SLC25A15, TNFRSF11B, ALDH4A1, IVD, OXCT1, GALC, DLAT, SUCLG1, MLYCD, MAN2B1, MANBA, DBT, HIBCH, CYB5A, CYB5R3, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, NME1, MPV17, GRM6, OAT, PPIB, TCIRG1, TNFSF11, OSTM1, CA2, FAM20C, AGXT, GIF, CUBN, PAH, QDPR, PTS, PGAM2, PHKB, ACOX1, CYP27B1, CTSK, ALDH7A1, NT5C3A, SLC35C1, PHYH, AK2, LPIN1, HEXB, SARDH, ALDH3A2, ALDH5A1, SUOX, GM2A, HEXA, TCN2, ABHD5, LMBRD1, MMADHC, XDH, ABCD1, BCOR, SLC9A6, AMER1, ACSL4, PHKA1, MAOA, AIFM1, DDOST, DHODH, IDH3B, NDUFA12, ACO2, MRPL3, COQ6, PDSS1, PDSS2, COQ9, CDH23, MTO1, WHRN, SLC26A4, FBN1, CYP11B2, MECP2, SMPD1, CRB1, CRX, GUCY2D, IMPDH1, PDE6B, PROM1, RHO, RLBP1, RPE65, RPGR, RPGRIP1, SAG, TULP1, VCP, FH, OPA3, RAF1, HADHA, PANK2, SDHC, CRYAB, MFN2, SLC25A13, ALAS2, KIF1B, NDUFAF2, RRM2B, FOXRED1, CYP11B1, AFG3L2, GARS, GCK, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, DSP, PRPH2, ME2, SHH, PCDH15, NPHP4, USH2A, TRIM32, TTC8, CLRN1, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, KCNJ13, TMEM67, NHS, HPRT1, CNGB3, CYP1B1, OTX2, NDP, MFRP, CACNA1F, JAG1, ABCA4, PITX2, ELOVL4, FOXC1, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, PRODH, CC2D2A, GLB1, GNPTAB, PSAP, COMT, WFS1, DTNBP1, CLCN7, PYCR1, CASP8, TRMU, ABCB6, KRT5, OPA1, CPT2, CPS1, HSD17B4, AMACR, MTRR, SLC16A1, ABCA12, INPP5E, TNFRSF11A, GPR143, OPTN, RP1, EYA4, PDZD7, SLC37A4, ELN, TYR, MC1R, RET, MTR, HNF1B, LEMD3, SDHAF2, TUBB3, PITX3, TGFBI, RILP, PSEN1, RB1, CHM, TLR4, ELAC2, ZEB1, TGFB1, PAX6, WT1, SLC45A2, AMN, SOST, APP, SLC34A1, VSX1, OCA2, PRKCG, STAT1, STAR, KRT3, KRT12, GPD2, EFEMP1, SNCB, COL5A2, COL5A1, MEN1, WWOX, FZD4, KIF21A, RDH5, TIMP3, MYOC, OGG1, STAT3, RPS14, LMX1B, SEPT9, TMEM127, PPOX, ZFHX3, FECH, RP9, SLC22A4, HESX1, ANKRD26, NCOA4, CYP17A1, OGDH, ALMS1, CLN3, TPP1, GLRX5, SLC25A38, SOX2, ASL, APTX, BBS2, PDE6G, RP1L1, SPTLC2, KARS, IDH2, CDHR1, SCP2, CYP11A1, NRL, COL3A1, COL1A2, COL1A1, COL2A1, LRP5, PPARG, EYA1, FBLN5, TYRP1, RAX, MMACHC, SPATA7, NEUROD1, OPN1LW, HBB, HNF1A, OPN1MW, INVS, FOXL2, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, B4GALT7, AUH, ATPAF2, ATP8B1, ATP7B, BTD, ATP7A, FKBP10, ATP5F1E, TYROBP, HLCS, UQCRB, ANKH, ARG1, UQCRQ, USH1C, GYS2, PC, FBP1, USH1G, ALDOB, ALDOA, YARS2, AIPL1, ZNF513, ACAT1, ACADVL, AGL, ACADS, ACADM, ACAD9, ACACA, ABHD12, ABCB4, ABCB11, AARS2, MCCC2, MCCC1, TP53, MUTYH, VHL, UBE3A, MTHFR, BRCA1 Specificity 1 % Genes 7 %
Acatalasemia. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. CAT Specificity 100 % Genes 4 %
Peroxisomal Disorders Comprehensive NGS Panel. By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital in United States. TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2 , (...) View the complete list with 4 more genes Panel GTR000515765 complete gene list TRIM37, GNPAT, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, PEX6, PEX1, PEX7, PEX2, AGXT, ACOX1, PHYH, AGPS, SCP2, CAT, DNM1L, HSD17B4, AMACR Specificity 5 % Genes 4 %
CAT. By Fulgent Genetics Fulgent Genetics in United States. CAT Specificity 100 % Genes 4 %
Peroxisomal and Lysosomal Diseases , Panel Massive Sequencing (NGS) 78 Genes. By Reference Laboratory Genetics in Spain. AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14 , (...) View the complete list with 58 more genes Panel GTR000559870 complete gene list AGXT2, FAR1, PEX11B, TRIM37, GNPAT, GNPTG, CTSC, HYAL1, NAGA, LAMP2, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, FUCA1, PEX6, MFSD8, DNAJC5, ASAH1, CLN5, SUMF1, SLC17A5, PEX1, MCOLN1, PEX7, PPT1, PEX2, CTNS, CLN8, CLN6, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GBA, ARSA, ARSB, AGA, CLN3, TPP1, GALC, MAN2B1, MANBA, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CTSA, AGXT, ACOX1, CTSK, PHYH, HEXB, GM2A, HEXA, LMBRD1, AGPS, CTSD, SCP2, CAT, DNM1L, SMPD1, GLB1, GNPTAB, PSAP, HSD17B4, AMACR, GAA Specificity 2 % Genes 4 %
Neutrophil Antigen Genotyping Panel (includes HNA-1, 3, 4, 5). By BloodCenter of Wisconsin Diagnostic Laboratories BloodCenter of Wisconsin, part of Versiti in United States. CD177, SLC44A2, ITGAL, FCGR3B, ITGAM Specificity 20 % Genes 4 %
ITGAL. By Fulgent Genetics Fulgent Genetics in United States. ITGAL Specificity 100 % Genes 4 %
ITGB2 Gene Sequencing. By GeneDx in United States. ITGB2 Specificity 100 % Genes 4 %
ITGB2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ITGB2 Specificity 100 % Genes 4 %
Leukocyte adhesion deficiency (sequence analysis of ITGB2 gene). By CGC Genetics in Portugal. ITGB2 Specificity 100 % Genes 4 %
CD18 gene. By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States. ITGB2 Specificity 100 % Genes 4 %
Leukocyte adhesion deficiency. By Centogene AG - the Rare Disease Company in Germany. ITGB2 Specificity 100 % Genes 4 %
Complement deficiencies Panel. By CeGaT GmbH in Germany. MASP2, C8G, C8A, C8B, C6, C4A, C9, CD59, C5, C4B, COLEC11, CFP, ITGB2, C1QB, C1QA, C1QC, SERPING1, C2, CFD, FCN3 , (...) View the complete list with 14 more genes Panel GTR000528898 complete gene list MASP2, C8G, C8A, C8B, C6, C4A, C9, CD59, C5, C4B, COLEC11, CFP, ITGB2, C1QB, C1QA, C1QC, SERPING1, C2, CFD, FCN3, C7, MASP1, DGKE, CFHR3, CFHR1, C1R, C1S, THBD, C3, CD46, CFH, CFI, CFB, PIGA Specificity 6 % Genes 7 %
Defects of phagocytosis Panel. By CeGaT GmbH in Germany. FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE , (...) View the complete list with 39 more genes Panel GTR000528902 complete gene list FPR1, FCGR3B, MPO, ACKR1, IRF8, CEBPE, ITGB2, NCF1, ISG15, IL12B, JAGN1, IL12RB1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, IFNGR2, IFNGR1, CSF3R, MLPH, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, NCF4, NCF2, CSF2RA, TERT, CTSC, GATA1, ACTB, VPS13B, DNM2, WAS, CYBB, SBDS, GATA2, CYBA, TCIRG1, SLC35C1, TCN2, TAZ, AP3B1, HAX1, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, SLC37A4, STAT1, HFE Specificity 2 % Genes 4 %
Leukocyte adhesion deficiency type 1. By Praxis fuer Humangenetik Wien in Austria. ITGB2 Specificity 100 % Genes 4 %
Leukocyte adhesion deficiency type 1. By MedGene in Slovakia. ITGB2 Specificity 100 % Genes 4 %
Invitae Monogenic Inflammatory Bowel Disease Panel. By Invitae in United States. NFAT5, ADAM17, CD3G, IL21, ITGB2, PLCG2, IL10, IL2RA, IL10RB, ICOS, PIK3R1, TTC7A, NLRC4, IL10RA, CTLA4, LRBA, PIK3CD, LIG4, G6PC3, STXBP2 , (...) View the complete list with 26 more genes Panel GTR000553775 complete gene list NFAT5, ADAM17, CD3G, IL21, ITGB2, PLCG2, IL10, IL2RA, IL10RB, ICOS, PIK3R1, TTC7A, NLRC4, IL10RA, CTLA4, LRBA, PIK3CD, LIG4, G6PC3, STXBP2, XIAP, ZAP70, RAG1, RAG2, CD40LG, AICDA, STIM1, NCF4, NCF2, SH2D1A, MEFV, DOCK8, DKC1, FOXP3, MVK, BTK, WAS, RTEL1, DCLRE1C, CYBB, IL2RG, ADA, STAT3, CYBA, SLC37A4, STAT1 Specificity 7 % Genes 11 %
Invitae Primary Immunodeficiency Panel. By Invitae in United States. IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10 , (...) View the complete list with 187 more genes Panel GTR000553783 complete gene list IRF7, RORC, DCLRE1B, DOCK2, MAP3K14, NFAT5, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, FPR1, SP110, TNFSF12, IKBKB, LCK, CTPS1, ZBTB24, ADAM17, BCL10, IRF8, CD247, CD8A, ITCH, STAT2, CORO1A, CD3G, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, COPA, CEBPE, TMC8, TMC6, ITGB2, CD79B, IGLL1, CD79A, BLNK, B2M, PLCG2, RBCK1, ACP5, IL10, IL1RN, CARD14, IL36RN, SPINK5, TRNT1, CLPB, DNMT3B, IL2RA, CARD11, TMEM173, NLRP12, TICAM1, TRAF3, UNC93B1, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, TYK2, TNFRSF13C, PRKDC, IL10RB, ICOS, CR2, CARD9, ACD, TPP2, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL17F, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, AICDA, TNFRSF13B, CSF3R, MYD88, STIM1, RAB27A, FERMT3, SLC29A3, NOD2, NOP10, NHP2, CTC1, SH3BP2, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, PSMB8, CSF2RA, DOCK8, PARN, TERT, TERC, TBK1, LYST, BLOC1S6, CTSC, DKC1, MAGT1, FOXP3, MVK, SEMA3E, NLRP3, ACTB, VPS13B, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, PRF1, GATA2, NBN, ATM, TINF2, RMRP, CHD7, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAZ, TAP1, UNG, AP3B1, HAX1, TLR3, CASP8, SLC37A4, STAT1, PMS2 Specificity 4 % Genes 28 %
Invitae Phagocyte Defects Panel. By Invitae in United States. FPR1, CEBPE, ITGB2, SPINK5, CLPB, JAGN1, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, FERMT3, NCF4, NCF2, CSF2RA, CTSC, VPS13B, WAS, CYBB , (...) View the complete list with 7 more genes Panel GTR000553795 complete gene list FPR1, CEBPE, ITGB2, SPINK5, CLPB, JAGN1, LAMTOR2, GFI1, VPS45, G6PC3, ELANE, CSF3R, FERMT3, NCF4, NCF2, CSF2RA, CTSC, VPS13B, WAS, CYBB, G6PD, PMM2, CYBA, SLC35C1, TAZ, HAX1, SLC37A4 Specificity 4 % Genes 4 %
ITGB2. By Fulgent Genetics Fulgent Genetics in United States. ITGB2 Specificity 100 % Genes 4 %
Primary Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8 , (...) View the complete list with 255 more genes Panel GTR000552725 complete gene list BCL11B, OTULIN, IRF2BP2, RASGRP1, CARMIL2, ZNF341, TFRC, POLE2, HYOU1, JAK1, ARPC1B, BACH2, LAT, MRTFA, MSN, GINS1, CD59, ADAM17, BCL10, IRF8, CD247, CD8A, MTHFD1, STAT2, EXTL3, SMARCD2, WDR1, CD70, CORO1A, CD3G, TCF3, IL17RA, TRAF3IP2, MALT1, IL21R, IL21, NFKB1, COPA, CEBPE, COLEC11, TMC8, TMC6, CFP, PEPD, ITGB2, NCF1, CD79B, IGLL1, CD79A, BLNK, PLCG2, C1QB, RBCK1, C1QA, ACP5, C1QC, RNF31, IL10, DDX58, IL1RN, PSENEN, NCSTN, TNFAIP3, NLRP1, CARD14, IL36RN, SPINK5, SERPING1, TRNT1, RNF168, CLPB, USP18, RNU4ATAC, DNMT3B, IL2RA, SAMD9L, SAMD9, CARD11, TMEM173, NLRP12, UNC93B1, C2, DNAJC21, PGM3, PSTPIP1, PRKCD, ISG15, IL12B, ADA2, CFD, TYK2, PRKDC, IL10RB, ICOS, CD81, CR2, CD19, CARD9, ACD, PIK3R1, TTC7A, SMARCAL1, NLRC4, JAGN1, IL10RA, EPG5, CTLA4, NFKB2, TNFRSF1A, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, WIPF1, CD27, FADD, NFKBIA, LRBA, IRAK4, PIK3CD, LPIN2, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, CXCR4, RAC2, LAMTOR2, GFI1, VPS45, G6PC3, ITK, STXBP2, CASP10, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, CD3D, CD3E, IFNGR2, IFNGR1, CD40LG, CD40, AICDA, TNFRSF13B, CSF3R, IKZF1, MYD88, STIM1, RAB27A, MYO5A, FERMT3, SLC46A1, USB1, SRP72, MASP1, SLC29A3, DGKE, NOD2, C1S, NOP10, NHP2, WRAP53, CTC1, THBD, C3, CD46, CFH, CFI, CFB, JAK3, NCF4, NCF2, SH2D1A, MEFV, ADAR, IFIH1, HELLS, PSMB8, CSF2RB, CSF2RA, DOCK8, PARN, TERT, TERC, LYST, UNC119, CTSC, DKC1, MAGT1, FOXP3, MVK, NLRP3, ACTB, TBX1, VPS13B, TREX1, OFD1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, PIGA, BTK, WAS, RTEL1, SLC7A7, DCLRE1C, CYBB, G6PD, PRF1, SBDS, GATA2, NBN, MRE11, ATM, TINF2, RMRP, NRAS, KRAS, CHD7, CDCA7, NSMCE3, IFNAR2, CD55, RORC, DCLRE1B, DOCK2, MAP3K14, IL17RC, TAPBP, TAP2, TNFRSF4, RHOH, SP110, RPSA, IKBKB, LCK, CTPS1, ERCC6L2, ZBTB24, POLE, ZAP70, RAG1, RAG2, IL7R, BLM, CFTR, AIRE, PNP, IL2RG, MOGS, ADA, STAT3, CYBA, SLC35C1, AK2, TCN2, TAP1, UNG, AP3B1, HAX1, CLCN7, CASP8, SLC37A4, STAT1, RECQL4, PMS2 Specificity 3 % Genes 28 %
Severe Combined Immunodeficiency Panel. By Blueprint Genetics in Finland. BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G , (...) View the complete list with 59 more genes Panel GTR000552731 complete gene list BCL11B, TFRC, POLE2, LAT, MSN, NSMCE3, MAP3K14, TAPBP, TAP2, TNFRSF4, RHOH, SP110, IKBKB, LCK, IRF8, CD247, CD8A, STAT2, CORO1A, CD3G, MALT1, ITGB2, SPINK5, DNMT3B, IL2RA, CARD11, PGM3, TYK2, PRKDC, SMARCAL1, EPG5, STK4, RFXAP, RFXANK, RFX5, IL12RB1, CIITA, CD27, LRBA, PIK3CD, FOXN1, ORAI1, PTPRC, STAT5B, LIG4, NHEJ1, ITK, POLE, ZAP70, RAG1, RAG2, IL7R, CD3D, CD3E, IFNGR1, CD40LG, CD40, STIM1, JAK3, SH2D1A, DOCK8, PARN, UNC119, MAGT1, TBX1, WAS, RTEL1, DCLRE1C, ATM, RMRP, BLM, PNP, IL2RG, ADA, STAT3, AK2, TAP1, STAT1, PMS2 Specificity 2 % Genes 4 %
Leukocyte adhesion deficiency type I. By Bioarray in Spain. ITGB2 Specificity 100 % Genes 4 %
Leukocyte Adhesion Deficiency Type 1, Sequencing ITGB2 Gene. By Reference Laboratory Genetics in Spain. ITGB2 Specificity 100 % Genes 4 %
FAS Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FAS Specificity 100 % Genes 4 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS). By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 12 % Genes 4 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 12 % Genes 4 %
FAS Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. FAS Specificity 100 % Genes 4 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel. By Genetic Services Laboratory University of Chicago in United States. CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM , (...) View the complete list with 3 more genes Panel GTR000520393 complete gene list CARD11, CTLA4, CD27, PIK3CD, ITK, STXBP2, CASP10, FASLG, FAS, TNFRSF13B, IKZF1, SH2D1A, DOCK8, MAGT1, NF1, WAS, PRF1, NBN, ATM, BLM, ADA, BRCA2, BRCA1 Specificity 5 % Genes 4 %
FAS (TNFRSF6) Gene Sequencing. By GeneDx in United States. FAS Specificity 100 % Genes 4 %
FAS. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. FAS Specificity 100 % Genes 4 %
Autoimmune lymphoproliferative syndrome (sequence analysis of FAS gene). By CGC Genetics in Portugal. FAS Specificity 100 % Genes 4 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene). By CGC Genetics in Portugal. FAS Specificity 100 % Genes 4 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene). By CGC Genetics in Portugal. FAS Specificity 100 % Genes 4 %
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. FAS Specificity 100 % Genes 4 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. PRKCD, CTLA4, FADD, LRBA, PIK3CD, ITK, CASP10, FASLG, XIAP, FAS, SH2D1A, MAGT1, NRAS, KRAS, STAT3, CASP8 Specificity 7 % Genes 4 %
FAS. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. FAS Specificity 100 % Genes 4 %
ALPS/autoimmunity panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. ITCH, IL2RA, FADD, LRBA, CASP10, FASLG, FAS, FOXP3, NRAS, KRAS, AIRE, CASP8 Specificity 9 % Genes 4 %
Autoimmune lymphoproliferative syndrome. By Centogene AG - the Rare Disease Company in Germany. FAS Specificity 100 % Genes 4 %
Single gene testing FAS. By CeGaT GmbH in Germany. FAS Specificity 100 % Genes 4 %
Immune dysregulation Panel. By CeGaT GmbH in Germany. AOAH, FCGR2B, ITCH, IL2RA, CARD11, PRKCD, STXBP2, CASP10, FASLG, XIAP, STX11, FAS, UNC13D, RAB27A, SH2D1A, LYST, FOXP3, TREX1, PRF1, AIRE , (...) View the complete list with 2 more genes Panel GTR000528899 complete gene list AOAH, FCGR2B, ITCH, IL2RA, CARD11, PRKCD, STXBP2, CASP10, FASLG, XIAP, STX11, FAS, UNC13D, RAB27A, SH2D1A, LYST, FOXP3, TREX1, PRF1, AIRE, AP3B1, CASP8 Specificity 5 % Genes 4 %
Invitae Monogenic Autoimmunity Panel. By Invitae in United States. NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4 , (...) View the complete list with 53 more genes Panel GTR000553746 complete gene list NFAT5, TNFSF12, ITCH, IL21R, IL21, PLCG2, ACP5, IL10, IL2RA, TMEM173, PRKCD, ADA2, TNFRSF13C, IL10RB, ICOS, CR2, TPP2, PIK3R1, IL10RA, CTLA4, NFKB2, RFXAP, RFXANK, RFX5, CD27, FADD, NFKBIA, LRBA, PIK3CD, ORAI1, STAT5B, RAC2, STXBP2, CASP10, FASLG, XIAP, STX11, FAS, UNC13D, CD40LG, AICDA, TNFRSF13B, STIM1, RAB27A, NCF4, NCF2, SH2D1A, ADAR, IFIH1, DOCK8, LYST, BLOC1S6, FOXP3, TBX1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, BTK, WAS, SLC7A7, CYBB, PRF1, RMRP, AIRE, PNP, STAT3, CYBA, UNG, AP3B1, CASP8, STAT1 Specificity 5 % Genes 11 %
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel. By Invitae in United States. PRKCD, CTLA4, PIK3CD, ITK, FASLG, FAS, MAGT1, CASP8 Specificity 13 % Genes 4 %
FAS. By Fulgent Genetics Fulgent Genetics in United States. FAS Specificity 100 % Genes 4 %
Hemophagocytic Lymphohistiocytosis Panel. By Blueprint Genetics in Finland. FADD, ITK, STXBP2, FASLG, XIAP, STX11, FAS, UNC13D, RAB27A, MYO5A, SH2D1A, LYST, MAGT1, PRF1, RECQL4 Specificity 7 % Genes 4 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list ARPC1B, MRTFA, GINS1, DCLRE1B, ERCC6L2, MTHFD1, AP3D1, SMARCD2, WDR1, LMAN1, MCFD2, RPS29, MECOM, TMPRSS6, F13B, SERPINC1, DHFR, F13A1, TF, F12, F10, TRNT1, RNF168, CLPB, EGLN1, DDX41, REN, GP9, TUBB1, ACTN1, FLI1, FYB1, PRKACG, SLFN14, SRC, SAMD9L, SAMD9, DNAJC21, EPAS1, PGM3, EPOR, ACD, F7, VKORC1, JAGN1, PROC, WIPF1, FADD, PROS1, LPIN2, C15orf41, GSS, TPI1, RHAG, EPB42, ANK1, SPTA1, SPTB, EPB41, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, FASLG, XIAP, ELANE, STX11, FAS, UNC13D, GP1BB, SLC4A1, IFNGR2, CSF3R, ETV6, IKZF1, JAK2, MASTL, ITGA2B, ITGB3, GFI1B, HOXA11, ITGA2, NBEAL2, P2RY12, FGG, TBXA2R, RAB27A, MYO5A, GGCX, FGB, FGA, GP1BA, SLC46A1, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, ABCG8, ABCG5, FANCE, FANCF, FANCG, FANCA, ADAMTS13, F8, F9, NOP10, NHP2, WRAP53, CTC1, THBD, VWF, F11, SH2D1A, SFTPB, SFTPC, ABCA3, CSF2RA, PARN, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, SEC23B, CDAN1, PKLR, RPS24, RPL5, RPL11, RPS10, RPS26, KLF1, GATA1, PIEZO1, MYH9, SLC19A2, ACTB, VPS13B, ATRX, FLNA, NF1, WAS, RTEL1, MPL, HBA2, G6PD, HBA1, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, PDHX, ANKRD26, SLC25A38, CYB5R3, CUBN, NT5C3A, AK2, TCN2, ABCB7, PDHA1, PUS1, AP3B1, HAX1, CYCS, RPL35A, GPI, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, ALAS2, DTNBP1, CLCN7, GPR143, SLC37A4, TYR, MTR, SLC45A2, AMN, OCA2, TYRP1, HBB, PC, YARS2, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, HFE, F5, F2, BRCA2, BRCA1 Specificity 1 % Genes 4 %
Bone Marrow Failure Syndrome Panel. By Blueprint Genetics in Finland. ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK , (...) View the complete list with 102 more genes Panel GTR000552680 complete gene list ERCC6L2, SMARCD2, RPS29, DDX41, SAMD9L, SAMD9, DNAJC21, PGM3, ACD, JAGN1, WIPF1, CXCR4, RAC2, LAMTOR2, GFI1, RBM8A, VPS45, G6PC3, RPL15, ITK, STXBP2, XIAP, ELANE, STX11, FAS, UNC13D, IFNGR2, CSF3R, ETV6, IKZF1, RAB27A, MYO5A, USB1, RPS7, THPO, SRP72, ERCC4, XRCC2, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, NOP10, NHP2, WRAP53, CTC1, SH2D1A, CSF2RA, TERT, TERC, LYST, BLOC1S6, CTSC, ATR, DKC1, FANCB, MAGT1, RPS24, RPL5, RPL11, RPS10, RPS26, GATA1, ACTB, VPS13B, NF1, WAS, RTEL1, MPL, RAD51C, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, CDKN2A, PALB2, NBN, ATM, CBL, MAP2K2, RIT1, TINF2, SOS1, RPS19, PTPN11, NRAS, MAP2K1, KRAS, HRAS, BRAF, BLM, FANCC, ANKRD26, AK2, AP3B1, HAX1, RPL35A, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, SLC37A4, TP53, RUNX1, RECQL4, MLH1, MSH6, PMS2, MSH2, EPCAM, BRCA2, BRCA1 Specificity 1 % Genes 4 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing. By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran. FAS Specificity 100 % Genes 4 %
Focus::DLBCL&FL™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2 , (...) View the complete list with 24 more genes Panel GTR000557917 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, IRF4, BCL10, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 3 % Genes 4 %
Focus::Lymphoma™ NGS Panel. By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States. FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1 , (...) View the complete list with 29 more genes Panel GTR000557919 complete gene list FOXO1, SGK1, STAT6, SYK, SOCS1, PIM1, PRDM1, IKZF3, CCND3, IRF4, BCL10, IRF8, KMT2C, GNAI2, GNA13, MYC, BCL6, CDKN2B, BCL2, CCND1, CD79B, CD79A, B2M, PLCG2, TNFAIP3, CARD11, NOTCH2, PRKDC, CIITA, PIK3CD, FAS, IKZF1, MYD88, TET2, EP300, ARID1A, EZH2, NOTCH1, MTOR, KMT2D, BTK, CDKN2A, ATM, KRAS, CREBBP, BRAF, STAT3, TP53, PTEN Specificity 3 % Genes 4 %
Autoimmune lymphoproliferative syndrome type 1A. By Bioarray in Spain. FAS Specificity 100 % Genes 4 %
FoundationOne® Heme. By Foundation Medicine, Inc. in United States. TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2 , (...) View the complete list with 385 more genes Panel GTR000527977 complete gene list TRAF5, PIM1, PRDM1, HIST1H2AG, HIST1H3B, HIST1H1C, HDAC1, GTSE1, HIST1H1D, HIST1H2BK, HIST1H2BO, HIST1H2BC, HIST1H2AC, HIST1H2AM, HIST1H1E, HIST1H2AL, HDAC7, HIST1H2BJ, INPP5D, IKZF2, ID3, KDM2B, JAK1, JUN, KDM4C, KLHL6, IKBKE, INPP4B, IKZF3, HSP90AA1, JARID2, LRP1B, LEF1, APH1A, BCL2L2, AURKB, ARFRP1, ARHGAP26, MDM4, MAP2K4, MAGED1, BTLA, MCL1, EMSY, BCL7A, MKI67, BTG2, CHEK1, NUP98, PCLO, PCBP1, PASK, PDCD1, PBRM1, DAXX, PDCD11, PDCD1LG2, EPHB1, EPHA3, EBF1, DOT1L, EPHA5, ECT2L, EPHA7, FGF6, FBXO11, FAF1, ERG, FHIT, TENT5C, ETS1, FRS2, FOXO3, GADD45B, CD274, MYO18A, CCT6B, CDK8, CCND3, CD22, NOD1, CD58, GSK3B, IRF1, IRF4, IRS2, PIK3CG, CRKL, MAPK1, MAP3K14, AXIN1, CRLF2, INHBA, XBP1, BCL10, IRF8, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, RICTOR, KDM5A, EED, ERBB4, PPP2R1A, MAP3K7, ELP2, CIC, AXL, CD70, CAD, NUP93, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, CDKN2B, PTPRO, TCF3, RARA, CBFB, ERBB2, MSH3, MAFB, DDR2, MDM2, IGF1R, MALT1, CDK12, HDAC4, BCL2, CCND1, MIB1, KAT6A, DDX3X, CD79B, CD79A, B2M, PLCG2, NCSTN, TNFAIP3, KDR, FLT1, WISP3, NSD2, RAD51, PDGFRB, CTCF, FBXO31, CDK6, SRC, ICK, MAP3K1, CCND2, NTRK2, CARD11, POT1, TRAF3, NOTCH2, TYK2, PRKDC, PIK3R1, CIITA, NFKBIA, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, IL7R, BCORL1, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, CD36, GNAQ, AKT2, CSF1R, MYCN, PIK3CA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, TGFBR2, NOTCH1, ATR, MTOR, ZMYM3, TAF1, GATA1, CTNNB1, FOXP1, MED12, S1PR2, GATA3, FGF3, SOX10, HGF, ACTB, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, RELN, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, LRRK2, NF1, NTRK1, DNM2, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, TMSB4X, GID4, SERP2, ZNF703, FLYWCH1, PAG1, MEF2B, GNA12, EXOSC6, DUSP9, AURKA, TOP1, P2RY8, MAP3K6, FGF4, SMARCA1, SUZ12, DUSP2, NCOR2, DTX1, ASMTL, BRSK1, FGF19, RHOA, BCL11B, FOXO1, ADGRA2, PTPN6, PTPN2, RASGEF1A, PRSS8, SGK1, STAT6, SOCS3, TCL1A, SOCS2, SPEN, SOCS1, STAT5A, SPOP, STAT4, YY1AP1, ZNF24, WDR90, TLL2, XPO1, ZNF217, TMEM30A, TRAF2, TNFRSF17, TNFRSF14, U2AF2, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MEF2C, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, BCOR, AMER1, TUSC3, SDHB, IDH2, RAF1, SDHC, CPS1, TNFRSF11A, RET, RB1, WT1, HNF1A, FOXL2, PC, TP53, RUNX1, PTEN, MUTYH, MLH1, MSH6, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 7 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing. By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran. FAS Specificity 100 % Genes 4 %
NeoTYPE® Discovery Profile for Solid Tumors. By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States. IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5 , (...) View the complete list with 295 more genes Panel GTR000558437 complete gene list IKBKE, INPP4B, HSP90AA1, LRP1B, BCL2L2, AURKB, LMO1, ARFRP1, MDM4, MAP2K4, MCL1, EMSY, CHEK1, PBRM1, DAXX, PDCD1LG2, EPHB1, EPHA3, DOT1L, EPHA5, EPHA7, FGF6, ERRFI1, ERG, TENT5C, FRS2, GABRA6, FUBP1, CD274, CDH4, CDK8, CCND3, CDKN1A, GSK3B, GRM3, IRF4, IRS2, HSD3B1, PIK3CG, CRKL, PIK3CB, EP300-AS1, AXIN1, CRLF2, INHBA, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, IGF2, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, CIC, AXL, NUP93, FAT1, RNF43, CDKN2C, MYC, BCL6, SMO, CDKN2B, RARA, SNCAIP, CBFB, ERBB2, DDR2, MDM2, IGF1R, ABL2, CDK12, TBX3, BCL2, CCND1, KAT6A, KEL, CD79B, CD79A, CUL3, PLCG2, LYN, TNFAIP3, KDR, FLT1, CYLD, WISP3, RAD51, PDGFRB, DICER1, CTCF, CDK6, RUNX1T1, SRC, MAP3K1, CCND2, NTRK2, CARD11, NOTCH2, PRKDC, PIK3R1, RANBP2, NFKBIA, SPTA1, FAS, AKT1, AKT3, PIK3R2, GNA11, POLE, IL7R, BCORL1, FBXW7, IKZF1, MYD88, PDGFRA, SF3B1, STAG2, TET2, U2AF1, ABL1, JAK2, EGFR, NPM1, FLT3, GNAQ, GATA6, AKT2, POLD1, CSF1R, MYCN, PIK3CA, GATA4, VEGFA, CDKN1B, BAP1, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, JAK3, ASXL1, KIT, FGF10, FLT4, ARID1A, SMARCB1, SMARCA4, KMT2A, ARID2, ERBB3, NKX2-1, TERT, TERC, CTNNA1, KDM6A, MITF, EZH2, DNMT3A, TGFBR2, SMAD3, NOTCH1, ATR, MTOR, SOX9, TAF1, RBM10, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, HGF, KDM5C, PAK3, ATRX, SETD2, MAGI2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, FGFR1, NF1, NOTCH3, NTRK1, BTK, MPL, BARD1, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, CHEK2, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PTCH1, MRE11, ATM, ALK, NSD1, TSC1, CBL, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, SOX2, PRKN, BCOR, AMER1, SDHB, IDH2, FH, RAF1, SDHC, RET, RB1, WT1, HNF1A, FOXL2, TP53, RUNX1, IDH1-AS1, GID4, ZNF703, MEF2B, AURKA, TOP1, FGF4, FGF19, BCL2L1, H3F3A, BTG1, ADGRA2, ACVR1B, QKI, PRSS8, SYK, SPEN, SLIT2, SOCS1, SPOP, STAT4, XPO1, ZBTB2, ZNF217, TNFRSF14, TOP2A, PIK3C2B, PRKCI, PREX2, PRDM1, JAK1, JUN, KLHL6, IRF2, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 7 %
Caris MI TumorSeek 592-Gene NGS Panel. By Caris Life Sciences in United States. ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK , (...) View the complete list with 571 more genes Panel GTR000560898 complete gene list ETV1, BCL3, SET, ELL, BTG1, ADGRA2, ACSL3, AFF1, ACSL6, ACKR3, RABEP1, PSIP1, RANBP17, RAD51B, RPL22, SDC4, SH3GL1, REL, SLC45A3, SYK, TCL1A, SPECC1, SPEN, SNX29, SOCS1, SPOP, SSX1, SS18, STAT4, SRGAP3, TCEA1, SRSF3, ZNF331, THRAP3, NSD3, TFRC, SEPT5, TFPT, WWTR1, XPO1, ZNF217, ZNF521, ZMYM2, TRIM27, TLX3, TNFRSF17, TTL, TPR, TRAF7, TRRAP, TNFRSF14, TRIM26, VEGFB, USP6, TMPRSS2, VTI1A, PLAG1, PRCC, POU2AF1, PIM1, POU5F1, PRDM1, HERPUD1, HIST1H3B, HEY1, JAK1, JUN, HOOK3, HOXA9, KLHL6, IL6ST, JAZF1, IKBKE, HSP90AB1, HSP90AA1, KLK2, ASPSCR1, LRP1B, LCP1, LGR5, LPP, ARNT, BCL2L11, ARHGEF12, BCL2L2, AURKB, LMO1, KTN1, ATF1, LRIG3, LASP1, ARFRP1, ARHGAP26, LHFPL6, AFDN, MLLT11, MDM4, MLLT10, MAP2K4, BCL9, BRD3, MRTFA, MCL1, EMSY, MAML2, WDCP, BCL7A, MSN, NUTM1, CARS, CHCHD7, CHEK1, CHIC2, CNOT3, NUP98, OMD, CRTC1, CRTC3, COPB1, CNTRL, PDE4DIP, DDX6, PATZ1, PCSK7, DDX5, PDCD1, PBRM1, DDIT3, DAXX, PAFAH1B2, DDX10, PDCD1LG2, EPHB1, ELK4, PER1, EIF4A2, EPHA3, EBF1, DOT1L, EPHA5, EPS15, ECT2L, ELF4, FEV, FGF6, FCRL4, ERC1, FBXO11, ERG, FHIT, TENT5C, FOXO4, FOXO3, MTCP1, HOXD11, HIST1H4I, TLX1, CCDC6, CBFA2T3, FSTL3, RMI2, TPM4, C15orf65, OLIG2, COX6C, HLF, MLLT6, SEPT6, TAL2, HOXC11, LMO2, FNBP1, RAP1GDS1, FGFR1OP, MDS2, LYL1, SFPQ, GMPS, WIF1, TRIM33, H3F3B, GID4, ZNF703, MEF2B, AURKA, TOP1, P2RY8, FGF4, SUZ12, FGF19, H3F3A, KLF4, BCL11B, NUTM2B, ETV4, TFEB, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, CD74, RAC1, RICTOR, RALGDS, KDM5A, ATP1A1, ERBB4, PPP2R1A, CLTC, SLC34A2, CIC, TET1, BCL11A, AXL, NONO, CLTCL1, PRRX1, NUP93, RNF43, HOXC13, CDKN2C, MECOM, RPN1, BIRC3, MYC, BCL6, SMO, YWHAE, CDKN2B, MLLT1, CLP1, MLLT3, MN1, NUP214, AFF3, TAL1, ZBTB16, FIP1L1, PBX1, TCF3, RARA, ERCC1, CBFB, ERBB2, HNRNPA2B1, PICALM, NUMA1, DEK, PML, CHN1, MAFB, RNF213, GPHN, DDR2, MDM2, IGF1R, ETV5, MALT1, IL21R, ABL2, DDB2, CDK12, BCL2, CCND1, XPC, KAT6A, CD79B, CD79A, TRIP11, LIFR, KIAA1549, KDSR, TNFAIP3, ZNF384, KDR, FLT1, CYLD, HOXD13, WISP3, NSD2, BUB1B, RAD51, XPA, ERCC5, CAMTA1, ATP2B3, PDGFB, PDGFRB, DICER1, PAX8, WRN, TCF12, NIN, CTCF, EZR, KNL1, CDK6, MUC1, FLI1, RUNX1T1, SRC, MAP3K1, HOXA13, CCND2, MNX1, NTRK2, AFF4, CARD11, POT1, NOTCH2, PRKDC, PIK3R1, CTLA4, NFKB2, CIITA, NFKBIA, BCR, PTPRC, STAT5B, ITK, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, GNA11, IL7R, CBLC, BCORL1, CBLB, CSF3R, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, NPM1, FLT3, HOXA11, GNAQ, AKT2, CSF1R, GAS7, FUBP1, NCOA2, CD274, NCOA1, CDK8, CCND3, NFIB, MYB, CDH11, CCNB1IP1, CDX2, NACA, NCKIPSD, GOPC, GSK3B, TCF7L2, GOLGA5, HIP1, HMGA2, IRF4, HMGA1, PCM1, IRS2, CREB1, RBM15, FOXA1, PIK3CG, CRKL, PAX7, RHOH, TAF15, EWSR1, UBR5, AXIN1, ABI1, CRLF2, MLF1, INHBA, LCK, IL2, BCL10, ESR1, SS18L1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, KIF5B, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, CCNE1, MYCN, PIK3CA, ERCC4, VEGFA, CDKN1B, BAP1, CYP2D6, FANCD2, FANCL, FANCE, FANCF, FANCG, FANCA, SMAD2, CREB3L1, GNAS, CALR, SH2B3, JAK3, ASXL1, KIT, EP300, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, KMT2A, SMARCE1, ARID2, ERBB3, PRDM16, NKX2-1, TERT, MAF, CTNNA1, TFG, KDM6A, AKAP9, KCNJ5, MITF, EZH2, DNMT3A, MYH11, TGFBR2, NOTCH1, ATR, MTOR, RPL10, CANT1, RPL5, GATA1, KAT6B, CTNNB1, FOXP1, MED12, MYH9, GATA3, FGF3, SOX10, PAX3, ERCC3, ERCC2, HGF, CACNA1D, SETBP1, KDM5C, PAK3, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, STIL, GRIN2A, FGF14, TPM3, FUS, PDK1, FGF23, FGFR1, NF1, CNBP, NTRK1, DNM2, NDRG1, BTK, WAS, MPL, PMS1, BARD1, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, CBL, RAD21, TSC2, MAP2K2, FGFR2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, AR, FGFR3, TSHR, MEN1, STAT3, SEPT9, NCOA4, SOX2, BCOR, AMER1, ATIC, ALDH2, SDHB, IDH2, FH, RAF1, POLE, SDHC, CASP8, ELN, RET, SDHAF2, RB1, WT1, COL1A1, PPARG, HNF1A, FOXL2, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 7 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel. By Otogenetics in United States. MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ , (...) View the complete list with 109 more genes Panel GTR000552366 complete gene list MIR183, TFCP2, MIR182, OTOR, MYO1F, MYO1C, TMPRSS5, TBL1X, GSTP1, TCF21, HAL, ECE1, MTAP, GJB4, SPINK5, FAS, MT-TL2, MT-TM, MT-TD, MT-TQ, MT-TH, MT-TI, MYO1A, GJA1, LHX3, MITF, CATSPER2, GPSM2, MT-RNR1, CEACAM16, TPRN, GRXCR1, LOXHD1, TRIOBP, TMIE, TJP2, SLC26A5, POU4F3, OTOA, MYH9, MYH14, LHFPL5, LRTOMT, GATA3, GJB3, FOXI1, FGF3, ESRRB, GSDME, TMC1, SMPX, SIX1, RDX, PTPRQ, KCNQ1, KCNE1, PRPS1, CEMIP, TMPRSS3, TECTA, MT-TS2, MT-TS1, SLC4A11, STRC, SERPINB6, SLC17A8, SNAI2, SIX5, P2RX2, ESPN, KCNQ4, EDNRB, EDNRA, PAX3, DIAPH1, MARVELD2, PJVK, DSPP, OTOF, ILDR1, CRYM, COL11A2, COL9A2, GRHL2, MYO15A, MYO6, MYO3A, ERCC3, ERCC2, HGF, GIPC3, COL9A3, CCDC50, CLDN14, COCH, ATP6V1B1, ATP6V1B2, ACTG1, ACTB, KCNJ10, NR2F1, BSND, MT-TK, MT-TL1, GJB1, PMP22, POU3F4, GJB6, GJB2, FGFR3, SOX2, TIMM8A, MYO7A, MSRB3, CDH23, WHRN, SLC26A4, PCDH15, USH2A, CLRN1, ADGRV1, NDP, JAG1, WFS1, EYA4, PDZD7, BCS1L, USH1C, USH1G Specificity 1 % Genes 4 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE. By Laboratorio de Genetica Clinica SL in Spain. CASP10, FASLG, FAS, NRAS, CASP8 Specificity 20 % Genes 4 %
Autoimmune Lymphoproliferative Syndrome Type IA, Sequencing FAS Gene. By Reference Laboratory Genetics in Spain. FAS Specificity 100 % Genes 4 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes. By Reference Laboratory Genetics in Spain. CTLA4, FADD, ITK, CASP10, FASLG, FAS, MAGT1, NRAS, KRAS, CASP8 Specificity 10 % Genes 4 %
Tempus xT assay. By Tempus Labs, Inc. in United States. HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4 , (...) View the complete list with 571 more genes Panel GTR000558436 complete gene list HLA-DRB5, HLA-C, PPP6C, ZNRF3, FOXQ1, TBC1D12, WEE1, YEATS4, POU2F2, C8orf34, SEMA3C, PDPK1, HLA-G, LAG3, CCDC6, MEF2B, AURKA, TOP1, P2RY8, FGF4, SMARCA1, SUZ12, NCOR2, RHOA, BCL2L1, H3F3A, BCL11B, HLA-A, ETV4, FOXO1, ETV1, BTG1, ACVR1B, ABCC3, PTPRD, QKI, RAD51B, PTPN13, RPS6KB1, SGK1, SCG5, RSF1, SLC47A2, STAT6, SYK, TCL1A, SPEN, SLIT2, SOCS1, STAT5A, SPOP, TANC1, STAT4, LRP1B, LEF1, BCL2L11, ARHGAP35, AURKB, LMO1, ARHGAP26, C11orf65, MDM4, MAP2K4, C3orf70, MCL1, BCLAF1, EMSY, BCL7A, MKI67, VSIR, CHEK1, NUDT15, NUP98, PAK1, DIS3, PCBP1, PDCD1, PBRM1, DAXX, PDCD1LG2, EPHB1, EBF1, DOT1L, ECT2L, ELF3, EPHA7, FGF6, ERRFI1, FBXO11, ETS2, FGF7, FGF1, ERG, FHIT, TENT5C, FDPS, FGF5, ETS1, FGF2, GEN1, FNTB, FRS2, FOXO3, FUBP1, CD274, NCOR1, CDK8, CCND3, CDKN1A, CD22, NQO1, MYB, CBR3, GPS2, GRM3, PTPN22, RAD54L, TCF7L2, RNF139, ZNF750, EPHB2, DIRC2, IRF1, IL6R, IFNAR2, IRF4, IRS2, GSTP1, FOXA1, PIK3CG, CRKL, PIK3CB, MAPK1, PAX7, TAP2, FCGR3A, EWSR1, AXIN1, CRLF2, TNF, BCL10, PRSS2, XRCC3, CYP3A5, RINT1, ESR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, HLA-DRB1, GLI1, RAC1, RICTOR, KDM5A, ERBB4, PPP2R1A, MAP3K7, CIC, CHD4, AXL, CD70, MAD2L2, FAT1, RXRA, RNF43, CDKN2C, CKS1B, BIRC3, MYC, BCL6, SMO, PTCH2, CEP57, CDKN2B, EPHA2, MLLT3, TCF3, RARA, ERCC1, CBFB, ERBB2, MSH3, PML, MAFB, EGF, PALLD, DDR2, MDM2, ETV5, MLH3, MALT1, ARID5B, CDK12, ZNF471, ZNF620, XRCC1, TIGIT, XPO1, ZNF217, TNFRSF17, TNFRSF14, TNFRSF9, TOP2A, UGT1A9, TMPRSS2, PRCC, PIK3C2B, PPP2R2A, PREX2, PPP1R15A, PIM1, PRDM1, PIAS4, HLA-DQB2, HLA-DQA2, HAS3, HLA-DOB, HLA-DMA, HLA-DMB, HDAC1, HLA-DOA, HLA-E, HLA-DPB1, HLA-DPA1, HIST1H1E, HAVCR2, HIST1H4E, HDAC2, HIF1A, HLA-DRA, HLA-F, HSPH1, AJUBA, IFIT2, IFNAR1, IDO1, JAK1, IFIT3, JUN, KLLN, IFIT1, KLHL6, IRF2, IKBKE, ING1, INPP4B, IL15, HSP90AA1, ITPKB, TBX3, IFNL3, HDAC4, BCL2, SLC26A3, CCND1, FGF9, UMPS, XPC, MIB1, KAT6A, DDX3X, NTHL1, HOXB13, TYMS, HLA-DQA1, KEL, HLA-B, HLA-DQB1, FCGR2A, CD79B, CD79A, B2M, PLCG2, LYN, TNFAIP3, KDR, FLT1, FLG, CYLD, NSD2, GALNT12, BUB1B, RAD51, XPA, ERCC5, KMT2B, PDGFRB, DICER1, PAX8, UBE2T, EGLN1, WRN, CTCF, CDK6, RUNX1T1, SRC, ASNS, MAP3K1, DYNC2H1, CCND2, IL2RA, NTRK2, CARD11, POT1, TMEM173, TRAF3, EPOR, NOTCH2, MS4A1, CD19, PIK3R1, IL10RA, CTLA4, RANBP2, CIITA, NFKBIA, PIK3CD, BCR, STAT5B, CXCR4, FAS, AKT1, AKT3, PIK3R2, GNA11, AXIN2, POLE, ABRAXAS1, IL7R, IFNGR2, IFNGR1, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, GNAQ, GATA6, AKT2, GREM1, POLD1, APOB, CSF1R, MYCN, PIK3CA, GATA4, RPS15, ERCC4, VEGFA, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, FANCE, FANCF, FANCG, FANCA, SMAD2, GNAS, NOP10, NHP2, CTC1, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, H19, CTRC, PRSS1, SPINK1, FGF10, FLT4, NT5C2, ARID1A, SMARCB1, SMARCA4, ABL2, DDB2, DIS3L2, MTAP, POLH, KMT2A, SMARCE1, ARID2, ERCC6, ERBB3, TPM1, NKX2-1, TERT, MAF, CTNNA1, KDM6A, TP63, MITF, EZH2, DNMT3A, MYH11, ACTA2, TGFBR2, SMAD3, NOTCH1, ATR, ABCB1, MTOR, SPRED1, SOX9, TAF1, RBM10, DKC1, FANCB, SEC23B, RASA1, RPL5, GATA1, LZTR1, CTNNB1, ARID1B, FOXP1, MED12, GATA3, FGF3, SOX10, ERCC3, ERCC2, HGF, SETBP1, KDM5C, PHF6, ATRX, TBL1XR1, SETD2, KMT2D, GRIN2A, CHD2, FGF14, PDK1, FGF23, CASR, FGF8, FGFR1, NF1, NOTCH3, NTRK1, LMNA, DNM2, DPYD, BTK, MPL, UGT1A1, G6PD, PMS1, ENG, BARD1, RAD51C, CDC73, PRKAR1A, CEBPA, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, FGFR2, PTPN11, NRAS, MAP2K1, LDLR, KRAS, HRAS, CREBBP, BRAF, BLM, FANCC, CFTR, AR, FGFR3, TSHR, SDHA, MEN1, STAT3, TMEM127, ZFHX3, SOX2, PRKN, BCOR, AMER1, TAP1, ATIC, TUSC3, SDHB, SOD2, IDH2, FH, RAF1, SDHC, KIF1B, CYP1B1, CASP8, MTRR, MC1R, RET, HNF1B, SDHAF2, RB1, WT1, RAD51D, HNF1A, FOXL2, ATP7B, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, MTHFR, BRCA2, BRCA1 Specificity 1 % Genes 14 %
Tempus xO assay. By Tempus Labs, Inc. in United States. SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B , (...) View the complete list with 1693 more genes Panel GTR000558444 complete gene list SETD6, PIM3, MAP3K10, PDGFA, MAP3K11, PAK2, KHSRP, WASL, CASC11, GLIS1, NRG2, SOX21, SMARCC1, CUL4A, UTY, WNT9A, TEF, CHIC1, TRIM28, CDK11B, JUND, CKS2, FGF21, VGLL2, MAPK11, BMX, PBX3, KDM5D, PRRX2, GFRA4, ASCL5, VEGFD, SMARCD1, EPHA6, MAPK12, HDGFL3, SMYD2, TRIM24, E2F5, CDX1, RELB, PPP6C, ZNRF3, FOXQ1, TBC1D12, YEATS4, POU2F2, PDPK1, CES1, USP9Y, ICOSLG, NKX2-8, MTCP1, HOXD11, TLX1, CCDC6, CBFA2T3, OLIG2, HLF, MLLT6, TAL2, HOXC11, LMO2, RAP1GDS1, MDS2, LYL1, SFPQ, WIF1, TRIM33, MAPK3, GID4, ZNF703, MEF2B, AURKA, TOP1, MAP3K6, FGF4, SMARCA1, SUZ12, NCOR2, FGF19, HES1, RHOA, BCL2L1, H3F3A, KLF4, CDK13, BCL11B, HLA-A, NUTM2B, NUTM2A, SSX2, ETV4, TFEB, SSX4, NR4A3, MSI2, CREB3L2, TFE3, FOXO1, ETV1, BCL3, SET, BTG1, ADGRA2, ADGRL3, AHR, AFF1, ABCC1, AATK, ACVR2A, ACSL6, ACVR1B, ADAMTS20, ADGRB3, ADGRL2, PTPN6, PTPRD, RABEP1, PSPN, PTPN2, PTPN21, PTPRK, PTPRM, PTK2B, PTK2, PTGS2, RAD51AP1, PSIP1, PTPRG, PTTG1, PTGS1, PTPRR, RAD51B, PTPRJ, RBM14, RAD52, PTK7, PRSS8, PTK6, RAB25, SETD1B, SHB, RUNX3, RPS6KB1, SKIL, SGK1, RUVBL1, RIPK2, SETDB2, SGO2, SFRP1, RHOT1, SETD7, SLC22A3, SGO1, SF1, RNF40, SF3A1, RELA, RIPK1, SLC22A2, SHC4, SHC1, SETD4, SLC22A6, SH3GL1, ROCK2, SLC22A1, SKP2, SAV1, RSPO3, RHEB, RHOB, REC8, SETMAR, ROCK1, SETDB1, REL, SLC15A2, RPS6KB2, RPA1, SETD3, SETD9, RYK, RIPK3, SKOR1, RSPO2, TAOK3, SLC47A1, SMC2, SSTR3, SLC47A2, STAT6, SUV39H1, SMAD5, SSTR1, SMC6, STK36, TCF7L1, TEC, SMYD3, STARD3, SMYD5, SMC4, SUV39H2, TAOK2, SYK, TCL1A, SPDEF, SMC1B, TAOK1, SLCO2B1, TEAD3, STK19, SMARCA5, SSTR2, TEAD4, SPOPL, SP3, TAF1L, STYK1, SPEN, SLIT2, SOCS1, SLCO1A2, SMC5, TET3, SMYD4, TENM2, TEAD2, SP140L, SPI1, TERF1, STAT5A, SPRED2, SP140, TCF7, PRDM15, E2F1, CEBPB, AREG, PRKACB, PBX4, KAT5, FGF13, NFKBIB, PGF, SRMS, BBC3, SMURF1, FOSB, GUCY1A2, PHLPP1, SSTR4, ARTN, WNK2, INSRR, BUB3, CBX7, SHC3, IL13RA1, HES4, CEBPD, NFIC, IL9R, TCL1B, IL2RB, HDAC5, FKBP9, ZNF444, FGF22, ID4, SMYD1, RBMX, PRMT2, NFATC2, ZC3H12D, VGLL3, GSTT1, SPRY3, FOSL1, RBMXL1, GSK3A, ARHGAP10, WNT9B, NTF3, SPIB, SMARCD3, TNKS2, IL15RA, FGF11, RARG, VGLL4, SPRED3, SHC2, CARM1, ALKBH6, IL3RA, MAPK13, NRG4, CBX3, PDS5A, DACH2, BTG3, NKX2-4, HES2, ASCL2, MAPK14, SPOP, TFEC, SSX1, SS18, SOX8, SP100, SULT1A1, SMURF2, KMT5C, STAT4, SRGAP3, SPIC, SSX3, TBX2, ELOC, WNT11, TLR7, NSD3, WNT2B, ZNF668, ZNF471, ZC3H7B, TLK2, TLR8, WNT2, ZMYND8, WNT5B, WNT8B, TGFA, WNT7B, WWTR1, WNT16, TLR10, ZNF607, WISP1, YWHAB, WNT6, YWHAH, ZBTB33, XIRP2, XPO1, YES1, YY1, ZNF704, ZBTB7B, ZNF217, WAPL, TLX2, VHLL, VAV2, TNFRSF17, TRAF7, UBE2D2, TXK, TNK1, TRIB3, TRAF3IP3, TYRO3, UHRF2, TP53BP1, TLR9, TRRAP, TRIB2, TNFRSF14, UBE4A, TPTE, TOP2A, UGT1A4, TRAF1, VEGFB, UBE2D1, U2AF2, VGLL1, TMPRSS2, UBE2D4, TSHZ3, VAV3, TRIM66, TOP2B, VTCN1, UHRF1, PRMT5, PIK3C2G, PRDM10, PLAG1, PLCG1, PIK3R4, PRDM4, PRMT8, PRCC, PRMT3, PIK3C2B, PNRC1, PRKCI, PRDM14, PLK2, POU6F1, PREX2, PPP1R1C, PRDM11, PRDM7, PLAGL2, PRSS3, PIK3R3, PRDM6, PPFIA1, PPARD, PRMT6, POU5F1B, PIK3C2A, POU2AF1, PLK3, POU5F2, PIM1, PMAIP1, PRDM2, PRMT1, PLK1, POU5F1, PIM2, PRDM1, PIK3C3, PHLPP2, HLTF, HEY2, HIST1H3B, HIF1AN, HDAC1, HBEGF, HDGF, HDAC3, HDAC9, HEY1, GTPBP4, HIST1H1E, HDAC10, HIST1H4E, HDAC2, HIF1A, HDAC11, HCK, HDAC7, IL18RAP, AJUBA, JADE1, HOXD3, IKZF2, ID1, JUNB, IL1R2, IQGAP3, KDM2A, IKBIP, IL5RA, PVT1, PTPRB, KDM7A, IL1RAP, HOXD4, KAT8, KDM3B, ID3, KDM2B, KDM4D, IL12RB2, JAK1, KAT2A, JUN, KLF5, KDM4C, IRAK1, HOXA10, KDM1B, KAT7, HOXC10, INTS12, KMT5A, IRS4, HSPBAP1, JMJD7, IL1R1, KDM8, MAP3K21, JMJD8, ING4, HOXA9, IL20RA, HOXB3, KDM5B, KDM4B, IL6ST, JAZF1, ING1, IQGAP2, INPP4B, IL17RB, KDM3A, KLF12, KMT2E, IL3, IQGAP1, JMJD6, IFNLR1, ID2, IL22RA2, IL22RA1, IKZF3, HSP90AB1, HSP90AA1, HNRNPA3, KDM4A, ITPKB, IL20RB, JMJD4, JARID2, ARPC1B, BAZ1B, BAG4, LTK, ASPSCR1, APEX1, LRP1B, BAZ1A, LEF1, LGR6, LGR5, APH1A, LPP, LSM1, ARNT, BAZ2A, BCL2L11, BAZ2B, BACH2, LMO7, LMTK2, ASXL2, ARHGAP35, LMTK3, ARPC1A, BACH1, ATAD2, BCL2L2, AURKB, LMO1, ATF1, LATS1, BCAR3, ASCL3, ASCL4, LDB1, ASH2L, ATAD2B, LATS2, ARFRP1, LGR4, ARHGAP26, BABAM1, BCL2A1, MPG, BIRC8, MGA, MOB1B, MLLT11, MAP2K5, MINK1, MAP2K3, MAST1, MAPK6, MAP4K2, BPTF, BUB1, MAP3K13, MAST2, MDM4, MLLT10, MAML1, MATK, MAP3K9, MAP2K4, MAGED1, MAP4K3, BCL9, MAP4K5, BRD3, BTRC, MAP2K7, MOB1A, MRTFA, BIRC2, MAPK7, BTC, MCL1, MAP3K19, MAML3, MOS, MAP3K2, MAPK15, MAP3K12, BCLAF1, BRWD1, BRD7, MED12L, BRD8, EMSY, MAML2, BIRC5, BRD9, BID, MAP4, TIE1, ZNF521, TLK1, ZBTB5, WNT3A, ZNF639, YWHAZ, TLR6, WNT8A, YWHAQ, ZC3H12A, ZCCHC7, TPTE2, TNKS, UBE2D3, TLX3, TRAF2, MAPK4, BMI1, MLST8, MAP4K4, BCL7A, MAPK9, MED29, MRTFB, MAP3K5, BRD1, BRPF3, BTG2, MAD2L1, BRPF1, MAP3K15, MAP3K4, MAP4K1, MAU2, MAP2K6, NR4A1, NUTM2F, NUTM1, CAPRIN2, CHD5, MST1R, ODC1, MST1, CMPK1, NUTM2G, CHEK1, NUMBL, CHD9, CADM2, MSH4, CARD6, CHIC2, E2F3, DVL2, ELF2, ELF3, PHF1, EPHA7, FAT3, FEV, FGR, ETV3L, FGF6, FBXO8, ESPL1, ESCO1, EREG, FBXO11, ETS2, ETV7, EZH1, FGF7, FGF1, ESRRA, ERG, ETV3, FES, FER, FHIT, FEN1, EXTL1, FAT2, TENT5C, FGF18, FGF5, ETV2, ETS1, FGF2, FOXM1, FOXA3, FOXL1, FOXN3, FOXO4, FOXP4, FRS2, GABPA, FZR1, FOSL2, FYN, FOS, FRS3, FOXO3, FRK, GAB1, FUBP1, FLT3LG, NFKBIZ, NCOA2, CD274, NCOR1, CBX1, CEBPG, CDK15, NPPB, NEK11, CDK18, NCOA1, CD86, CDH10, MTDH, CD276, NFATC3, CDK1, NAB1, CDC42, CDK8, NEK4, CCND3, CDK10, CDKN1A, CDH20, NEK6, NEK7, NFIB, NKX3-1, CD1D, CD22, CDK3, CECR2, NFATC1, NQO1, CDKN3, NCK1, NKX2-3, MYB, CBX4, CDK20, CDH11, CEBPZ, CDH5, NEK5, CDK7, CDK2, CCNL1, CCNB3, CBX6, CDK14, CES2, CD28, NFATC4, CBX5, CD80, CDX2, CDC25C, CDK17, CDK9, NCOA3, NFKBID, NOTCH4, NCK2, IKBKE, IL18R1, NPR1, CDH2, CDC25B, NOTCH2NLA, CDC25A, NEK3, CCNE2, NFKBIE, NEK10, CDC20, MYBL1, NAB2, CBX8, CBFA2T2, MYOD1, GRB2, GPS2, GRK4, GSK3B, GRM8, GRK5, GRM3, GRB7, PTGIS, RAD54B, RAD54L, SSTR5, TCF7L2, PPM1D, POU6F2, NR4A2, PRKACA, MAD1L1, ALOX5, ZNF750, EPHB2, TLR2, SMAD7, MIPOL1, IL6R, IRF5, PGR, HMGA2, IRS1, IRF4, HMGA1, IRS2, IL4R, IL23R, GLCCI1, FKBP5, CREB1, CSNK1D, CD44, CHUK, ABCG2, PAK5, BAX, HSD3B1, HTR2A, TBL1X, RBM15, FOLH1, FOXA1, FOXA2, TRAF6, PIK3CG, CRKL, PIK3CB, MAPK1, GAB2, CRK, SPRY2, DOCK2, MAP3K14, IL17RC, PAX7, SEM1, SOX1, EPHB4, TRIB1, PPARA, PERP, SMAD1, ESR2, PRDM9, RBMXL2, CHD1, PAX1, RHOH, SP110, FGF16, DRD1, PRKAR1B, TAF15, EWSR1, ELP3, UBR5, AXIN1, ADRB1, SLC19A1, MYBL2, PTPRT, EGR1, ABI1, CRLF2, MLF1, INHBA, ARNT2, IKBKB, LCK, TLR5, XBP1, YAP1, CDK11A, CYP2B6, PHIP, ADAM17, KLF6, BCL10, CYP3A5, RRM1, NTF4, ESR1, SS18L1, STAG1, CRHR1, PEAR1, KMT2C, FGFR4, NTRK3, MYCL, ROS1, RPTOR, GNA13, EML4, BRD4, ARAF, NFE2L2, KEAP1, NRG1, CCNE1, IGF2, ELK1, BRD2, GLI1, STAT2, DACH1, MXD1, PRKD1, RAC1, RICTOR, EIF1AX, NRIP1, CHD3, NRG3, CARD10, CNOT3, NUP98, NUMB, CHD6, CNTFR, CSF1, CTSL, CRTC1, CRTC3, CSNK1E, COPS3, CTSS, CSK, CREM, CREB3L4, CTCFL, CRTC2, PAK1, PARP4, DCUN1D1, DDX6, PATZ1, DDR1, PDGFC, PARP2, PAK4, PAK6, DIS3, PCBP1, CYP2J2, PAXIP1, PBX2, DDX5, DIRAS3, PDCD1, PBRM1, DDIT3, DAXX, CYP2C8, DCUN1D2, PDGFD, PDCD1LG2, EPHB1, ELK4, ELF5, E2F6, EPHA3, E2F7, EBF1, DOT1L, EPHA1, ELF1, ELK3, DYRK2, PEG3, EPHB6, EHF, EPHA5, PHF2, EHMT2, EPHA8, EPHA4, DMXL1, EPGN, EPHB3, PDS5B, DNMT3L, ECT2L, ELF4, PARP1, SETD1A, KDM5A, CNKSR1, KDM6B, TRAF3IP1, CTNND1, DVL3, EED, TBX22, NKX2-6, ERBB4, JMJD1C, PPP2R1A, HDAC6, KAT2B, KMT5B, ASH1L, TRIO, MAP3K7, CIC, MAPK8, TET1, CHD4, BRDT, CBX2, PRLR, BCL11A, SMARCD2, KDM1A, AXL, PRDM13, NRTN, NONO, PRDM12, WNT4, ROR2, DNMT3B, DHH, HOXA13, ESCO2, CCND2, ZNF423, ZBTB20, MNX1, NKX2-2, IL2RA, NFIA, WNT5A, NTRK2, PRMT7, SAMD9, CARD11, POT1, TRAF3, EPOR, NOTCH2, TYK2, PRKDC, IL10RB, ICOS, PIK3R1, VKORC1, IL10RA, CTLA4, ABCC2, NFKB2, STK4, IL12RB1, CIITA, AIP, FADD, NFKBIA, PIK3CD, BCR, PTPRC, STAT5B, RAC2, GFI1, G6PC3, ITK, FASLG, XIAP, ELANE, FAS, EXT1, EXT2, AKT1, AKT3, PIK3R2, INSR, GNA11, AXIN2, POLE, ABRAXAS1, ZAP70, IL7R, CD40LG, CD40, CBLC, BCORL1, CBLB, CSF3R, CUX1, ETV6, FBXW7, IDH1, IKZF1, MYD88, PDGFRA, SF3B1, SRSF2, STAG2, TET2, U2AF1, ZRSR2, ABL1, JAK2, EGFR, TPMT, NPM1, FLT3, RARB, GFI1B, HOXA11, TBXAS1, GNAQ, GGCX, GATA6, GLIS3, BLK, PAX4, AKT2, ABCA1, ABCG1, GREM1, POLD1, APOB, PCSK9, APOA1, ACVR2B, SLC6A3, DRD2, HMGCR, CSF1R, IL11RA, MYCN, PIK3CA, GLIS2, NEK8, USB1, THPO, ERCC4, VEGFA, DIAPH2, TLR1, BDNF, SLC6A4, STK3, CDKN1B, BAP1, XRCC2, CYP2D6, FANCD2, FANCI, FANCL, FANCM, SLX4, CYP2C19, FANCE, FANCF, FANCG, FANCA, KITLG, NOD2, SMAD2, CREB3L1, WNT1, NR3C2, GNAS, NOP10, NHP2, DBH, CALR, MGMT, SH2B3, JAK3, ASXL1, KIT, EP300, ACE, MBD1, MBD3, WNK3, PRSS1, FGF10, SH2D1A, FLT4, TEK, VEGFC, NT5C2, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, HELLS, SMARCE1, ARID2, ERBB3, RIPK4, NEK9, NEK2, MYL3, MYL2, DSC2, TNNT2, TPM1, JUP, DSG2, PRKAG2, TNNI3, NKX2-5, PRDM16, ACTC1, NKX2-1, CSF2RB, CSF2RA, SMAD9, TERT, BMPR1B, TERC, MAF, CDH3, CTNNA1, TFG, KDM6A, TP63, AKAP9, KCNJ5, RYR2, MITF, PKP2, CACNB2, GLI3, EZH2, NFIX, DNMT3A, ACVR1, PRDM5, MYH11, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, ATR, GLI2, ABCB1, MTOR, SPRED1, SOX9, TWIST1, POR, RAB23, CDK16, ZMYM3, KLF8, SOX3, TAF1, BRWD3, RBM10, USP9X, DKC1, FANCB, AFF2, PHF8, FOXP3, RASA1, RPL5, GATA1, KAT6B, FAT4, LZTR1, CTNNB1, ARID1B, CACNA1C, EHMT1, FOXP1, FOXP2, MED12, MID1, DIAPH3, ROR1, GATA3, FGF3, CDC14A, PTPRQ, KCNQ1, SOX10, PAX3, DNMT1, DIAPH1, ERCC3, ERCC2, HGF, ZEB2, PICALM, ROBO2, IL17RA, TRAF3IP2, DEK, MSH3, PML, AURKC, MAFB, SOX17, EGF, PALLD, CTNNA2, RNF213, DDR2, MDM2, WNT10B, IGF1R, ETV5, MLH3, FBXW11, MALT1, SMAD6, IL21R, NFKB1, ABL2, DUSP22, DDB2, MTAP, CEBPE, ARID5B, PRPF40B, CDK12, TBX3, HDAC4, BCL2, SLC26A3, CCND1, IGF1, NR3C1, TWIST2, TMC8, CYP1A2, TMC6, FGF9, HR, XPC, RBPJ, MAP3K3, CDK19, HOXA3, GRB10, KAT6A, DDX3X, HOXB13, DHFR, KEL, HLA-B, HOXD10, NGF, CYP2C9, CD79B, CD79A, BLNK, VAV1, SLCO1B3, SLCO1B1, LIFR, WNK4, CUL3, GDNF, ASCL1, B2M, KDSR, GATA5, PLCG2, HTR1A, CARD8, PSENEN, LYN, NCSTN, TNFAIP3, ZNF384, WNT10A, KDR, FLT1, NLRP1, FLG, CTNNA3, CYLD, ALOX12B, NKX3-2, HOXD13, NSD2, GALNT12, BUB1B, RAD51, PRDM8, XPA, MAPK10, FGF12, ERCC5, CAMTA1, KMT2B, PDGFB, PDGFRB, DICER1, CDH7, CYP2R1, PAX8, ASXL3, PLAGL1, WRN, PLK4, CDC6, TCF12, ERF, CRBN, CTCF, CLIP1, SETD5, ZMYND11, CDK6, CENPE, FLI1, RUNX1T1, SRC, CDK5, FGF17, MAMLD1, FSHR, NEK1, ICK, IRF6, MAP3K1, WNT7A, SETBP1, CUL4B, KDM5C, PAK3, PHF6, ATRX, TCF4, TBL1XR1, SETD2, MAGI2, KMT2D, SCN5A, GRIN2A, CHD2, KCNH2, MCPH1, FGF14, MUSK, SMCHD1, TMEM43, SYNE1, MYBPC3, FUS, RYR1, CACNA1S, PDK1, MYH7, FGF23, GHR, CYP21A2, HSD11B2, FGF8, GNRHR, LHCGR, FGFR1, NR0B1, LRRK2, NF1, TBP, PPP2R2B, NOTCH3, PSEN2, WNK1, NTRK1, LMNA, DNM2, EGR2, NDRG1, DPYD, PKHD1, BTK, WAS, MPL, UGT1A1, G6PD, RAD51D, PMS1, BARD1, RAD51C, CDC73, PRKAR1A, PRF1, CEBPA, SBDS, PAX5, GATA2, BRIP1, RAD50, SMAD4, BMPR1A, MAX, CHEK2, GPC3, MET, FLCN, SDHD, CDKN1C, CDKN2A, CDK4, STK11, CDH1, SUFU, PALB2, NF2, PHOX2B, PTCH1, NBN, MRE11, ATM, ALK, NSD1, NIPBL, TSC1, SMC1A, SMC3, CBL, RAD21, TSC2, MAP2K2, RIT1, HDAC8, SOS2, FGFR2, VDR, TINF2, SOS1, SHOC2, RUNX2, PTPN11, NRAS, MAP2K1, LEPR, LDLR, KRAS, HRAS, GLA, FOXG1, CREBBP, CHD7, BRAF, BLM, FANCC, ELP1, ARX, AR, FGFR3, TSHR, IL2RG, SDHA, MAK, TEAD1, PHB, PLA2G2A, PAX2, MEN1, STAT3, TMEM127, ZFHX3, NCOA4, CYP17A1, SOX2, PPP2R1B, PRKN, BCOR, AMER1, MAOA, PHOX2A, CTSD, HAX1, SDHB, IDH2, MERTK, PRPF6, GOT1, CHD1L, CD70, MAD2L2, MAP3K8, PRRX1, NUP93, FAT1, TNK2, GPC5, RXRA, CYP4F2, CYP2A6, TBX18, DVL1, RNF43, DCC, OSMR, HOXC13, IHH, IGF2R, CDKN2C, CKS1B, MECOM, RPN1, BIRC3, MYC, BCL6, LRP6, SMO, YWHAE, PTCH2, FGF20, PTPRF, CDKN2B, MLLT1, EPHA2, MLLT3, NAT2, MN1, ADRB2, NUP214, CYP3A4, AFF3, TAL1, ZBTB16, PBX1, TCF3, RARA, ERCC1, PAX9, CBFB, ERBB2, WNT3, FBN1, FH, RAF1, SDHC, KIF1B, DSP, SHH, COMT, CASP8, MC1R, RET, HNF1B, SDHAF2, PSEN1, RB1, TLR4, TGFB1, PAX6, WT1, STAT1, COL3A1, LRP5, PPARG, HNF1A, FOXL2, FKBP10, ABCB4, ABCB11, TP53, RUNX1, RECQL4, PTEN, MUTYH, MLH1, MSH6, PMS2, MSH2, EPCAM, APC, VHL, BRCA2, BRCA1 Specificity 1 % Genes 28 %
CXCL8. By Fulgent Genetics Fulgent Genetics in United States. CXCL8 Specificity 100 % Genes 4 %
High HDL. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. APOA1, SCARB1, CETP Specificity 34 % Genes 4 %
Low HDL Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ABCA1, LCAT, ABCG1, APOA1, SCARB1 Specificity 20 % Genes 4 %
APOA1. By Institute for Human Genetics University Clinic Freiburg in Germany. APOA1 Specificity 100 % Genes 4 %
Amyloidosis due to deposits of apolipoprotein AI. By Clinic of Pediatrics and Adolescent Medicine General University Hospital in Prague and First Faculty of Medicine, Charles University in Prague in Czech Republic. APOA1 Specificity 100 % Genes 4 %
Dyslipidemia NGS panel (29 genes), Sequence & CNV analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. SAR1B, MYLIP, STAP1, LIPG, CYP7A1, SLCO1B1, LIPC, APOC3, ABCA1, LCAT, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1 , (...) View the complete list with 9 more genes Panel GTR000552854 complete gene list SAR1B, MYLIP, STAP1, LIPG, CYP7A1, SLCO1B1, LIPC, APOC3, ABCA1, LCAT, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ABCG8, ABCG5, APOE, MTTP, LIPA, LDLR, CYP27A1 Specificity 7 % Genes 7 %
Amyloidosis (sequence analysis of APOA1 gene). By CGC Genetics in Portugal. APOA1 Specificity 100 % Genes 4 %
Amyloidosis (sequence analysis of APOA1 gene). By CGC Genetics in Portugal. APOA1 Specificity 100 % Genes 4 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics in Portugal. OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR Specificity 16 % Genes 11 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics in Portugal. OSMR, IL31RA, LYZ, CST3, B2M, APOA2, TACSTD2, F10, TNFRSF1A, FGA, APOA1, PRNP, MEFV, NLRP3, GSN, RET, TGFBI, APP, TTR Specificity 16 % Genes 11 %
AMYLOIDOSIS, FAMILIAL VISCERAL. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. LYZ, APOA2, FGA, APOA1 Specificity 25 % Genes 4 %
Familial High Density Lipoprotein Deficiency. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. ABCA1, APOA1 Specificity 50 % Genes 4 %
Familial Amyloidosis via APOA1 Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. APOA1 Specificity 100 % Genes 4 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list CLDN10, TMEM260, KANK3, SLC6A20, MAGEC1, TBC1D1, SLC41A1, SLC36A2, SLC22A10, KCNMB1, NRIP1, MAGED2, DYNC2LI1, IFT52, RMND1, MAPKBP1, MOCOS, SLC26A1, PDE3A, FN1, FAN1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, KANK4, XPO5, SGPL1, LAMA5, TRAP1, UPK3A, AGTR1, CFHR2, TBX18, KANK1, ALAD, EHHADH, ANLN, BICC1, ROBO2, MAFB, ARHGDIA, AGT, SOX17, EGF, CNNM2, TALDO1, HPSE2, LYZ, IL21, NFKB1, GUCY2C, DIS3L2, LRIG2, SLC26A3, HMBS, TRPM6, KL, UROD, SLC5A2, FXYD2, SLC7A9, GANAB, SEC61A1, PEX11B, SEC63, SLC2A9, EIF2AK4, LIFR, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, GALNT3, MYO1E, KANK2, LAMC1, WDR73, APOPT1, COA5, SLC6A19, SERAC1, DICER1, DMP1, SLC34A3, CLCN5, ENPP1, GCM2, STX16, LRP2, REN, MUC1, CRB2, CFHR4, LRP4, WDR60, NEK1, FRAS1, CCNQ, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, PDE6D, KIF14, CEP120, CEP104, KIAA0556, IFT172, IFT74, TCTN3, NOTCH2, MS4A1, PRKCSH, TNFRSF13C, ICOS, HOGA1, CD81, CR2, CD19, SMARCAL1, NFKB2, ITGA3, LRBA, RBM8A, ATP6V0A4, SLC4A1, COQ8B, TNFRSF13B, IKZF1, BMP4, FREM1, VPS33B, FGA, EIF2AK3, GLIS3, SLC2A2, LCAT, B9D2, GREM1, APOA1, PCBD1, IFT122, COX10, PIK3CA, EVC2, EVC, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, CDKN1B, APOL1, ADAMTS13, DGKE, CFHR3, CFHR1, CFI, CFB, CD2AP, JAK3, SALL4, ACE, MEFV, PGK1, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, POC1B, KCNJ5, TNXB, MAGT1, AGTR2, PTH1R, SOX18, MVK, CLCNKA, WDR35, KAT6B, PEX5, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, KIAA0586, TMEM231, PEX6, FGF20, ITGA8, PTPRO, EMP2, WDR34, CHRM3, SLC16A12, MYH9, GATA3, SIX1, PRPS1, SIX5, DCDC2, CACNA1D, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, TBC1D24, SCARB2, CACNA1H, KCNA1, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, SLC12A3, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, NF1, ATXN10, AHI1, WNK1, TMEM216, PKHD1, PEX1, MPL, GRHPR, SLC7A7, PEX7, NPHS1, NPHS2, PEX2, CTNS, COL4A3, RAD51C, CDC73, PRKAR1A, SBDS, MAX, MET, FLCN, SDHD, NF2, TSC1, TSC2, VDR, NPC1, HRAS, GLA, DHCR7, APRT, ABCD4, SDHA, TACO1, PAX2, MEN1, LMX1B, TMEM127, CYP17A1, ALMS1, ASL, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC22A5, ASS1, SLC3A1, COX6B1, FASTKD2, GALT, GCDH, ETFDH, ETFA, ETFB, PYGM, CBS, SUCLG1, MUT, MMAA, MMAB, CA2, AGXT, CUBN, PGAM2, LMBRD1, MMADHC, XDH, OTC, STRA6, PCCA, PCCB, COQ2, ALG8, HADHB, IQCB1, SUCLA2, SLC9A3R1, SDHB, CYP24A1, G6PC, XPNPEP3, CCDC28B, HMGCL, FAH, SARS2, COQ6, PDSS2, CYP11B2, FH, HADHA, SDHC, SLC25A13, RRM2B, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NR3C2, GNAS, THBD, C3, CD46, CFHR5, CFH, HPRT1, JAG1, OCRL, CC2D2A, GLB1, CPS1, INPP5E, RET, HNF1B, SDHAF2, PAX6, WT1, SLC34A1, LRP5, EYA1, MMACHC, HNF1A, INVS, BCS1L, AUH, ATP7B, ARG1, ACAT1, VHL Specificity 1 % Genes 7 %
Hereditary Amyloidosis, gene sequencing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. LYZ, B2M, APOA2, FGA, APOA1, GSN, TTR Specificity 15 % Genes 4 %
Custom gene seqeuncing panel. By Molecular Diagnostics Laboratory University Health Network in Canada. LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH , (...) View the complete list with 10 more genes Panel GTR000560776 complete gene list LYZ, B2M, POT1, FGA, APOA1, BAP1, MITF, RYR1, CACNA1S, MET, FLCN, SDHD, CDKN2A, CDK4, TSC1, TSC2, SDHA, GSN, SDHB, FH, SDHC, MC1R, PTEN, MLH1, MSH6, PMS2, MSH2, EPCAM, VHL, TTR Specificity 4 % Genes 4 %
AllNeuro panel. By Centogene AG - the Rare Disease Company in Germany. FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1 , (...) View the complete list with 1185 more genes Panel GTR000528053 complete gene list FCGR2B, TNF, ALOX5AP, PRKCH, TLR5, TIRAP, NOS2, XBP1, KCNK18, AANAT, SNIP1, EIF4E, ZBTB18, ADAM10, YAP1, ICAM1, SNX3, CISH, TAS2R38, FRG1, TNFSF4, RABGGTA, CDK11A, CNTNAP4, CR1, CD207, ACKR1, JRK, CD59, FZD9, DNAH9, VDAC1, NRG1, ELK1, NXF5, FLRT1, ADK, KCNK9, HERC2, WAC, ERBB4, NDUFA4, RBFOX3, STRADA, ARSI, USP8, WDR48, ZFR, ATP2B4, NOG, PRRX1, NECTIN1, UPB1, KANK1, ALAD, CACNA1B, YWHAE, FBXO38, TRPM7, EXOSC8, CHRM3, FTO, ZBTB16, ERCC1, SNCAIP, GIGYF2, TMCO1, MSX1, TUBA4A, WNT3, IRX5, AIMP1, EXOC8, PLEKHG4, HPSE2, PDE8B, LYZ, CIZ1, HDAC4, NOS3, TRPM6, DRD3, SLC6A5, IGF1, GLRA1, CST3, TFAP2B, GLRB, UMPS, NOP56, IFRD1, TRPS1, POGZ, PEX11B, GYG1, COL4A2, FAM126A, HOXD10, ARHGEF10, NGF, RETREG1, GDNF, ASCL1, CERS1, ARHGAP31, IL1RN, EIF4G1, WNT10A, KCNE5, DSC3, AP1S1, SCN10A, CWF19L1, CHCHD10, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, RUBCN, MAPK10, LMNB1, ITM2B, STUB1, NAT8L, ERCC5, ELOVL5, PIK3R5, NOL3, GRID2, COL18A1, ATCAY, CAMTA1, ATP2B3, ATP8A2, AAAS, ACY1, SLC30A10, ADCY5, GNAL, BCAP31, HPCA, ANO3, DNAJC6, ORC1, ALX3, CD96, CA8, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, C12orf57, LINS1, LRP2, MED23, TECR, ANK3, CACNG2, EPB41L1, CRADD, NDST1, TAF2, TTI2, CEP63, KNL1, CEP135, ZNF335, MED17, LAMB1, MPDZ, CCDC88C, SNAP29, ASNS, PREPL, MAMLD1, ARSE, ICK, WNT7A, ROR2, DHH, ESCO2, GRIP1, DYNC2H1, ZNF423, RIN2, HEPACAM, WNT5A, CSPP1, PDE6D, PIGL, NTRK2, OCLN, NLRP12, TICAM1, TRAF3, UNC93B1, TCTN3, NOTCH2, PRKRA, RANBP2, COL7A1, DST, FADD, LPIN2, XK, NHEJ1, RBM8A, SLC4A1, AKT1, AKT3, PIK3R2, B3GLCT, ALX1, FREM1, VAX1, CD36, VIPAS39, MYO5A, FGA, A2M, GP1BA, VPS35, PTF1A, ABCA1, B9D2, APOA1, PCBD1, SLC6A3, DRD2, EARS2, FBXO7, SLC20A2, TPK1, SORL1, PRNP, TREM2, CSF1R, IL11RA, TMEM165, COG5, COG6, ALG11, COG4, SCO1, COX10, MARS2, VLDLR, MYCN, RBBP8, IER3IP1, RAB18, PIK3CA, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, ZIC3, B9D1, VEGFA, MASP1, BDNF, DCAF17, COASY, CP, FTL, NOD2, CTC1, GNPAT, CCT5, ASXL1, EFTUD2, RNASET2, EP300, ALX4, CD320, ACE, LHX4, SLC9A9, CSF2RB, DOCK8, ACVRL1, SLC4A4, BLOC1S6, IFT140, GAN, MED25, AARS, LRSAM1, TFG, HINT1, DNAJB2, DHTKD1, GNB4, SBF1, PDK3, TRIM2, PLEKHG5, COX6A1, MARS, KDM6A, MAGEL2, TP63, GLI3, RNF135, NFIX, ABCC6, ACTA2, SKI, TGFBR2, TGFBR1, TGFB2, HYAL1, NAGA, ATR, PCNT, FLVCR2, CDK5RAP2, GLI2, CDON, CEP152, ZIC2, TGIF1, TSEN2, TSEN34, EXOSC3, VANGL1, MTOR, NEDD4L, CLCN2, NSUN2, TWIST1, MSX2, ZCCHC12, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, TAF1, CLIC2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, DKC1, FANCB, ZNF711, MAGT1, LAMP2, MBTPS2, AFF2, HUWE1, IGBP1, PHF8, CHRNG, NEU1, FOXP3, MVK, CLCNKA, KAT6B, PEX5, TBCE, TG, TSHB, TUBGCP6, ASXL3, SEPSECS, AMPD2, RNU4ATAC, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, NLGN3, NLGN4X, CTNNB1, ARID1B, TMEM231, HOXA1, CHD8, AP1S2, CACNA1C, EHMT1, FOXP1, FOXP2, KIRREL3, LAMC3, MED12, MID1, ADNP, DIAPH3, TFAP2A, PEX6, MYH9, MYH14, GJB3, CHSY1, PRPS1, SOX10, EDNRB, DNMT1, NLRP3, ERCC2, EDN3, CACNA1D, ACTG1, ACTB, SHANK2, SHANK3, HTRA1, ATP2A2, LBR, TBX1, PAFAH1B1, TSEN54, FLNA, TUBA8, RELN, SIX3, RAB3GAP1, PQBP1, NDE1, QARS, EMX2, DCX, CENPJ, ARFGEF2, COL4A1, BCKDK, PIGO, BRAT1, PRRT2, DEPDC5, TBC1D24, ASAH1, ALG13, SCN5A, SCARB2, KCNMA1, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, SCN3A, PNPO, KCNQ3, KCNQ2, KCNT1, GRIN2B, GABRD, FOLR1, SLC6A1, SLC35A2, SYNJ1, SCN2A, SCN1B, ST3GAL5, SLC19A3, SCN9A, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, LGI1, EFHC1, CPA6, CHRNB2, CACNA1H, ATP1A3, ATP1A2, ASPM, MCPH1, COL6A1, LARGE1, COL6A3, COL6A2, POMGNT2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SMCHD1, ISPD, SGCD, TCAP, POMT1, POMT2, PLEC, DAG1, DNAJB6, TRAPPC11, FGF10, PGK1, CTDP1, KIF11, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, MAG, REEP2, ERLIN1, SMARCA2, ARID1A, SMARCB1, SMARCA4, KMT2A, ERCC6, CHMP1A, PIEZO2, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, GMPPB, POMK, SLC5A7, HNRNPDL, MTMR14, TNPO3, MYF6, LIMS2, COL12A1, AMPD1, PRKAG2, NKX2-1, EMD, SYNE2, SYNE1, IGHMBP2, VRK1, HSPB3, DYNC1H1, BICD2, BIN1, MTM1, TNNT1, TPM2, CFL2, CNTN1, KBTBD13, CCDC78, ACTA1, TPM3, UBQLN2, PFN1, VAPB, ANG, TARDBP, CHMP2B, DCTN1, SETX, FUS, SIGMAR1, RYR1, SLC33A1, NIPA1, L1CAM, ATP2A1, KIF5A, SPAST, MATR3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, KCNJ1, CLCNKB, BSND, LAMB2, INF2, INS, CASR, KCNJ11, FGFR1, SNCA, SGCE, LRRK2, NF1, GCH1, THAP1, TOR1A, CACNA1A, ATXN3, SCN4A, DYSF, CNBP, UBA1, CAV3, FKRP, CLCN1, NOTCH3, AHI1, C9orf72, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, SMN2, EIF2B3, ZFYVE26, ATL1, SPTLC1, WNK1, NTRK1, GJB1, LMNA, DNM2, YARS, HSPB1, EGR2, RAB7A, LITAF, HSPB8, NEFL, PMP22, MPZ, TRPV4, GDAP1, MTMR2, SH3TC2, FGD4, FIG4, PRX, SBF2, NDRG1, TMEM216, RAPSN, PLA2G6, EIF2B5, CLN5, CAPN3, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MLC1, TH, SACS, SGCB, SGCA, PEX7, PPT1, PROP1, PEX2, NEB, FKTN, DOK7, CLN8, CLN6, CHRNE, RAD50, GPC3, MET, PHOX2B, MRE11, ATM, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, CBL, RAD21, TSC2, HDAC8, FGFR2, WDR62, VPS13A, GFAP, VPS13B, TREX1, ZEB2, SETBP1, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, ARHGEF9, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, SERPINI1, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, KCNJ10, SAMHD1, PNKP, SPTAN1, PLCB1, ANKRD11, PIGV, PIGN, DYRK1A, GRIN1, NRXN1, PIGA, SCN8A, ROGDI, ST3GAL3, WDR45, SZT2, NEXMIF, SLC13A5, TBL1XR1, SETD2, MAGI2, RBFOX1, KMT2D, PDCD10, CCM2, ATP13A2, MFSD8, DNAJC5, KRIT1, TUBB2B, SRPX2, STIL, ADGRG1, CACNA1S, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, SELENON, FHL1, BAG3, RTN2, WASHC5, BSCL2, SOS1, SMN1, SLC2A1, SHOC2, RAI1, PTPN11, PORCN, PLP1, PCDH19, NRAS, NPC2, NPC1, MEF2C, KRAS, IKBKG, IDUA, IDS, HRAS, GJC2, FOXG1, EIF2B1, DMD, DHCR7, CREBBP, CHD7, CDKL5, BRAF, GBA, ELP1, ARX, ASPA, ARSA, AR, FGFR3, TSHR, HPD, MOGS, DPAGT1, DOLK, ARSB, AHCY, AGA, ABCD4, SDHA, MTFMT, SLC6A8, TMLHE, TACO1, GSN, NEFH, SOD1, PNKD, SNCB, WWOX, KIF21A, HESX1, ALMS1, CLN3, TPP1, ASL, APTX, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PRKN, PMM2, MGAT2, SLC25A20, SLC22A5, SIX6, CYP27A1, ASS1, SLC3A1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, DBT, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CHAT, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, AGXT, PAH, QDPR, PTS, PGAM2, ACOX1, ALDH7A1, SLC35C1, PHYH, LPIN1, HEXB, ALDH3A2, ALDH5A1, GM2A, HEXA, ABHD5, LMBRD1, MMADHC, ABCD1, BCOR, SLC9A6, ACSL4, PHKA1, MAOA, AIFM1, ABCB7, TAZ, TIMM8A, GK, PDHA1, HCCS, FRMD7, OTC, PUS1, ALG3, ETHE1, PTCH1, NBN, MPI, TYMP, ALG6, GAD1, SLC35A1, SCO2, CISD2, AMT, GLDC, GCSH, PINK1, HMGCS2, PARK7, B4GALT1, ALG12, SPG7, COQ2, GRN, ALG2, ALG8, AP3B1, ALG1, ATIC, ALG9, COG7, DPM1, HADHB, FLVCR1, GFM1, MPDU1, SLC25A22, TK2, ACADSB, CTSD, POLG2, DNAJC19, REEP1, HTRA2, TSFM, PNPLA2, SLC25A3, TUSC3, DARS2, COG8, COG1, RARS2, GYS1, TUBA1A, RFT1, COQ8A, SUCLA2, STXBP1, SPR, GATM, GAMT, ENO3, LDHA, PGM1, DPM3, SLC25A12, TMEM126A, TLR3, GFER, ABAT, SPTLC2, KARS, SCP2, NUBPL, NDUFA10, MTPAP, TTC19, CCDC28B, NDUFAF1, PCK2, NFU1, TMEM70, HPS3, HPS4, HPS5, HPS6, BLOC1S3, ACSF3, BOLA3, DGUOK, DNM1L, HPS1, ALDH18A1, AGK, NDUFA9, NDUFB3, DDOST, NDUFA12, ACO2, PDSS1, PDSS2, COQ9, MTO1, CYP11B2, MECP2, SMPD1, VCP, FH, OPA3, RAF1, HADHA, PANK2, CRYAB, MFN2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, AASS, PRPH2, SHH, TRIM32, TTC8, CEP290, ADGRV1, MKKS, NPHP1, NPHP3, ARL6, TMEM67, NHS, HPRT1, NDP, ELOVL4, OCRL, HSD17B10, GNE, SRD5A3, ATP6V0A2, CC2D2A, GLB1, PSAP, WFS1, DTNBP1, KRT5, OPA1, CPT2, HSD17B4, AMACR, MTRR, INPP5E, GPR143, GBE1, PYGM, PFKM, HK1, ALDH4A1, GALC, SUCLG1, OPTN, RET, MTR, TUBB3, PSEN1, TGFB1, PAX6, AMN, APP, PRKCG, FBLN5, MMACHC, ADSL, GAA, C12orf65, TWNK, BEST1, BCS1L, BCKDHB, BCKDHA, ATPAF2, ATP7B, ATP7A, ATP5F1E, TYROBP, UQCRB, ARG1, UQCRQ, PC, ALDOB, ALDOA, ACAT1, ACADVL, AGL, ACADS, ACADM, ACADL, ACAD9, ACACA, ABHD12, AARS2, PTEN, VHL, UBE3A, TTR, MTHFR, HFE, HTT, FMR1, F5, F2 Specificity 1 % Genes 11 %
Single gene testing APOA1. By CeGaT GmbH in Germany. APOA1 Specificity 100 % Genes 4 %
Cardiovascular Diseases_General Panel. By Health in Code in Spain. CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1 , (...) View the complete list with 360 more genes Panel GTR000530651 complete gene list CH25H, BMP10, TRIB1, TOPBP1, ISL1, GREM2, HAND2, SLC25A40, NNT, PPARA, MYOM1, LPA, SLC22A8, IRX3, KCNK17, PPP1R13L, PERP, FHOD3, FOXD4, SMAD1, IRX4, MCTP2, CYP3A5, NKX2-6, MRPL44, KCND2, MED13L, COA6, TRIM63, KLF10, PKP4, LRP6, INSIG2, CYP3A4, TNNI3K, TAB2, SMAD6, TFAP2B, SAR1B, MYLIP, CALM3, ASPH, CALR3, MIB1, TBX20, EIF2AK4, SLCO1B1, CAVIN4, CHRM2, PLTP, LIPC, APOC3, GATA5, ADAMTSL4, KCNE5, CTNNA3, SCN10A, COA5, FGF12, OBSL1, ANK3, ZFPM2, AGPAT2, PLIN1, CIDEC, TBC1D4, NOTCH2, GJA5, NPPA, COL7A1, TDGF1, XK, CFC1, INSR, PDGFRA, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, ACVR2B, CRELD1, LEFTY2, CITED2, NPC1L1, IER3IP1, EVC, GATA4, GDF1, ZIC3, TMPO, TXNRD2, OBSCN, CYP2D6, ABCG8, ABCG5, B3GAT3, FHL2, GJA1, EP300, TBX5, SALL4, NOS1AP, MFAP5, PRKG1, ZMPSTE24, SPEG, TOR1AIP1, AMPD1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, ILK, PDLIM3, BMPR2, KCNA5, EFEMP2, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, ACVR1, CHST14, FKBP14, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, FOXH1, NODAL, ABCB1, A2ML1, RRAS, RASA2, SPRED1, ZDHHC9, UPF3B, LAMP2, FOXP3, RASA1, LZTR1, CTNNB1, CACNA1C, EHMT1, FOXP1, VCL, MED12, KCNQ1, KCNE1, CACNA1D, TBX1, KANSL1, CACNA2D1, KMT2D, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, SYNE2, TMEM43, SYNE1, ACTA1, MYBPC3, RYR1, FHL1, BAG3, BSCL2, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, PDX1, INS, KCNJ11, CEL, NF1, CAV3, FKRP, NOTCH3, APOE, PSEN2, LMNA, CAPN3, SGCB, SGCA, MTTP, FKTN, ADAMTS2, ENG, SMAD4, BMPR1A, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LIPA, LEP, LDLR, KRAS, HRAS, GLA, FOXF1, DMD, CREBBP, CHD7, BRAF, DOLK, SDHA, COL5A2, COL5A1, ZFHX3, ALMS1, PMM2, SLC22A5, COX6B1, FXN, PYGM, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, SCO2, COQ2, MEF2A, GFM1, DNAJC19, TSFM, PNPLA2, SLC25A3, MRPS22, SLC39A13, CAVIN1, IDH2, FAH, TMEM70, DNM1L, AGK, GPD1, LIAS, MRPL3, MTO1, FBN1, OPA3, RAF1, CRYAB, FOXRED1, GCK, SLC25A4, DLD, DSP, PCDH15, NPHP4, JAG1, PITX2, FOXC1, GLB1, GNPTAB, WFS1, CPT2, EYA4, ELN, HNF1B, PSEN1, ELAC2, COL3A1, COL1A2, COL1A1, PPARG, NEUROD1, HNF1A, GAA, B4GALT7, ATPAF2, ATP7A, ATP5F1E, ACADVL, AGL, ACAD9, AARS2, TTR, HNF4A, HFE Specificity 1 % Genes 7 %
Dyslipidemias / Early atherosclerosis. By Health in Code in Spain. CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4 , (...) View the complete list with 64 more genes Panel GTR000530656 complete gene list CH25H, TRIB1, SLC25A40, PPARA, LPA, SLC22A8, CYP3A5, LRP6, INSIG2, CYP3A4, SAR1B, MYLIP, SLCO1B1, PLTP, LIPC, APOC3, AGPAT2, PLIN1, CIDEC, TBC1D4, INSR, EIF2AK3, GATA6, PTF1A, NEUROG3, GLIS3, BLK, KLF11, PAX4, RFX6, AKT2, SLC2A2, ABCA1, LCAT, ABCG1, ANGPTL3, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, SCARB1, CETP, NPC1L1, IER3IP1, CYP2D6, ABCG8, ABCG5, ZMPSTE24, AMPD1, CAV1, ABCB1, FOXP3, RYR1, BSCL2, HNF4A, PDX1, INS, KCNJ11, CEL, APOE, LMNA, MTTP, LIPA, LEP, LDLR, PYGM, COQ2, MEF2A, PNPLA2, CAVIN1, GPD1, GCK, PCDH15, WFS1, CPT2, HNF1B, PPARG, NEUROD1, HNF1A Specificity 3 % Genes 7 %
Hypolipidemias. By Health in Code in Spain. SAR1B, MYLIP, APOC3, ABCA1, LCAT, ABCG1, ANGPTL3, APOB, PCSK9, APOA1, MTTP Specificity 19 % Genes 7 %
APOA1 Gene, Full Gene Analysis. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. APOA1 Specificity 100 % Genes 4 %
Familial Cardiomyopathy Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1 , (...) View the complete list with 26 more genes Panel GTR000530307 complete gene list HOPX, APOA1, TMPO, CTF1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, TNNT2, TPM1, JUP, DSG2, PLN, PRKAG2, MYH6, TNNI3, TNNC1, TGFB3, MYLK2, ACTC1, RYR2, PKP2, ABCC9, LAMP2, SCN5A, SGCD, TCAP, EMD, TMEM43, MYBPC3, LDB3, MYH7, DES, CAV3, LMNA, FKTN, GLA, ALMS1, TAZ, DNAJC19, DSP, EYA4, TTR Specificity 3 % Genes 4 %
APOA1. By Fulgent Genetics Fulgent Genetics in United States. APOA1 Specificity 100 % Genes 4 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list FN1, FAN1, DSTYK, CHD1L, SIX2, ARHGAP24, NUP107, NUP93, NUP205, FAT1, XPO5, SGPL1, TRAP1, UPK3A, AGTR1, TBX18, EHHADH, ANLN, FGF20, KCTD1, ITGA8, PTPRO, EMP2, PBX1, ROBO2, ARHGDIA, SOX17, EGF, CNNM2, LYZ, TRPM6, SLC5A1, SLC5A2, FXYD2, SLC7A9, SLC2A9, SLC22A12, CLDN19, CLDN16, WNK4, CUL3, MYO1E, GDNF, B2M, WDR73, SRGAP1, DMP1, SLC34A3, CLCN5, ENPP1, CRB2, NEK1, WNT4, FREM2, GRIP1, DYNC2H1, ANKS6, CEP83, ZNF423, CEP164, CSPP1, KIF14, TMEM107, IFT172, IFT74, C2CD3, TCTN3, NOTCH2, HOGA1, SMARCAL1, TNFRSF1A, ITGB4, ITGA3, ATP6V0A4, SLC4A1, COQ8B, BMP4, FREM1, VIPAS39, VPS33B, FGA, SLC2A2, B9D2, GREM1, APOA1, IFT122, ARL13B, GLIS2, IFT80, CPLANE1, CEP41, IFT43, KIF7, NEK8, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, KLHL3, APOL1, DGKE, NR3C2, CFI, CD2AP, SALL4, MEFV, ZMPSTE24, SDCCAG8, WDPCP, BBIP1, IFT27, LZTFL1, WDR19, SLC4A4, IFT140, DHTKD1, KCNJ5, GLI3, TNXB, CLCNKA, WDR35, FOXP1, SEMA3E, MYH9, GATA3, SIX1, SIX5, NLRP3, COL4A6, CACNA1D, CD151, ATP6V1B1, SALL1, OFD1, KCNJ10, COL4A1, SCARB2, CACNA1H, FGF23, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, SCNN1B, SCNN1G, SCNN1A, ACTN4, PHEX, AQP2, AVPR2, LAMB2, COL4A4, UMOD, INF2, HNF4A, HSD11B2, ANOS1, CASR, FGFR1, ATXN10, AHI1, APOE, WNK1, LMNA, TMEM216, PKHD1, SLC17A5, GRHPR, NPHS1, NPHS2, CTNS, COL4A3, GPC3, DLG1, SLIT2, KIF12, DLC1, E2F3, DACH1, SLC41A1, MAGED2, ADCY10, TSC1, TSC2, VDR, GLA, DHCR7, CREBBP, CHD7, APRT, GSN, PAX2, LMX1B, ALMS1, BBS2, BBS1, BBS4, BBS10, BBS9, MKS1, BBS12, BBS5, BBS7, PMM2, SLC3A1, CA2, AGXT, CUBN, XDH, COQ2, ALG1, IQCB1, SLC9A3R1, CYP24A1, XPNPEP3, FAH, SARS2, C8orf37, COQ6, PDSS2, CYP11B1, NPHP4, TRIM32, TTC8, CEP290, MKKS, NPHP1, NPHP3, ARL6, TMEM67, HPRT1, JAG1, OCRL, CC2D2A, INPP5E, RET, HNF1B, WT1, SLC34A1, EYA1, INVS, ATP7B, VHL, TTR Specificity 2 % Genes 11 %
Cardiomyopathy Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK , (...) View the complete list with 135 more genes Panel GTR000552712 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALR3, ALPK3, TBX20, RBCK1, CTNNA3, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, TGFB3, ACTC1, CASQ2, RYR2, PKP2, ABCC9, ABCC6, RRAS, RASA2, SPRED1, LAMP2, LZTR1, VPS13A, EEF1A2, SCN5A, HCN4, LARGE1, LAMA2, SMCHD1, ISPD, SGCD, TCAP, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, PRDM16, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 4 %
Comprehensive Cardiology Panel. By Blueprint Genetics in Finland. PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1 , (...) View the complete list with 165 more genes Panel GTR000552682 complete gene list PLEKHM2, PPA2, LRRC10, FBXO32, MYBPHL, CDH2, HAND1, FOXD4, TECRL, RMND1, GTPBP3, MYL4, TNNI3K, TAB2, CALM3, CALR3, ALPK3, TBX20, GATA5, RBCK1, CTNNA3, SCN10A, ENPP1, NUP155, EPG5, XK, GATA6, APOA1, DBH, PPP1CB, TBX5, SALL4, NOS1AP, VCL, GMPPB, SPEG, TOR1AIP1, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, JPH2, GATAD1, TNNT2, TPM1, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, NKX2-5, PRDM16, TGFB3, ACTC1, KCNA5, AKAP9, CASQ2, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, CACNB2, SCN3B, ABCC9, TRPM4, ABCC6, ACTA2, RRAS, RASA2, SPRED1, LAMP2, LZTR1, CACNA1C, KCNQ1, KCNE1, VPS13A, EEF1A2, CACNA2D1, SCN5A, HCN4, SCN1B, KCNH2, LARGE1, LAMA2, KCNJ2, SMCHD1, ISPD, SGCD, TCAP, POMT1, PLEC, EMD, TMEM43, ACTA1, MYBPC3, SELENON, FHL1, BAG3, LDB3, MYOT, ANO5, FLNC, MYH7, DES, TTN, SCNN1B, SCNN1G, NF1, DYSF, CAV3, FKRP, LMNA, CAPN3, SGCG, SGCB, SGCA, FKTN, CBL, MAP2K2, RIT1, SOS2, SOS1, SHOC2, PTPN11, NRAS, MAP2K1, KRAS, HRAS, GLA, DMD, BRAF, DOLK, SDHA, ALMS1, SLC25A20, SLC22A5, FXN, ETFDH, ETFA, ETFB, GBE1, MLYCD, GUSB, COX15, TAZ, SCO2, PCCA, PCCB, GFM1, DNAJC19, TSFM, PNPLA2, TMEM70, AGK, MTO1, VCP, RAF1, HADHA, CRYAB, NDUFAF2, FOXRED1, SLC25A4, DSP, TRIM32, GLB1, CPT2, ELAC2, GAA, ACADVL, AGL, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 4 %
Hyperlipidemia Panel. By Blueprint Genetics in Finland. CREB3L3, APOC3, ABCA1, GPIHBP1, APOC2, LMF1, LPL, APOA5, APOB, LDLRAP1, PCSK9, APOA1, ABCG8, ABCG5, APOE, LIPA, LDLR, ALMS1 Specificity 12 % Genes 7 %
Dilated Cardiomyopathy (DCM) Panel. By Blueprint Genetics in Finland. PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG , (...) View the complete list with 50 more genes Panel GTR000552621 complete gene list PLEKHM2, LRRC10, FBXO32, GATAD2A, MYBPHL, HAND1, FOXD4, RMND1, MYL4, TNNI3K, TAB2, ALPK3, TBX20, RBCK1, EPG5, GATA6, APOA1, TBX5, VCL, SPEG, TOR1AIP1, DSC2, ACTN2, RBM20, JPH2, TNNT2, TPM1, JUP, DSG2, PLN, MYH6, TNNI3, TNNC1, PRDM16, ACTC1, PKP2, ABCC9, ABCC6, LAMP2, VPS13A, EEF1A2, SCN5A, HCN4, TCAP, EMD, ACTA1, MYBPC3, BAG3, FLNC, MYH7, DES, TTN, DYSF, LMNA, FKTN, DMD, DOLK, ALMS1, ETFDH, ETFA, ETFB, GBE1, MLYCD, TAZ, PCCA, PCCB, RAF1, DSP, GLB1, TTR Specificity 2 % Genes 4 %
Hypertrophic Cardiomyopathy (HCM) Panel. By Blueprint Genetics in Finland. ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC , (...) View the complete list with 18 more genes Panel GTR000552625 complete gene list ALPK3, EPG5, APOA1, MYL3, MYL2, CSRP3, ACTN2, JPH2, TNNT2, TPM1, PRKAG2, TNNI3, ACTC1, ABCC9, LAMP2, ACTA1, MYBPC3, FHL1, BAG3, FLNC, MYH7, CBL, SOS1, HRAS, GLA, BRAF, FXN, COX15, AGK, RAF1, NDUFAF2, SLC25A4, ELAC2, GAA, ACADVL, AGL, ACAD9, TTR Specificity 3 % Genes 4 %
AMYLOIDOSIS. By Laboratorio de Genetica Clinica SL in Spain. LYZ, APOA2, FGA, APOA1, TTR Specificity 20 % Genes 4 %
Visceral Hereditary Amyloidosis, Sequencing APOA1 Gene. By Reference Laboratory Genetics in Spain. APOA1 Specificity 100 % Genes 4 %
Familial Amyloidosis and Related Disorders , Panel Massive Sequencing (NGS) 8 Genes. By Reference Laboratory Genetics in Spain. OSMR, IL31RA, LYZ, B2M, FGA, APOA1, GSN, TTR Specificity 13 % Genes 4 %
Hypercholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Hypolipidemia and Hypocholesterolemia. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ANGPTL3, APOB, PCSK9, MTTP Specificity 25 % Genes 4 %
APOB (R3500Q/R3500W) Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. APOB Specificity 100 % Genes 4 %
Ataxia Exome Panel. By Genetic Services Laboratory University of Chicago in United States. PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1 , (...) View the complete list with 460 more genes Panel GTR000553853 complete gene list PIGG, CHAMP1, THG1L, VWA3B, CWF19L1, WDR73, TMEM240, SNX14, APOPT1, CHCHD10, PRDM8, PET100, RNF170, POLR3B, POLR3A, WDR81, COA5, ZNF592, XPA, TRNT1, UROC1, PMPCA, RUBCN, COQ4, SLC52A3, SLC9A1, MAPK10, YME1L1, LMNB1, ITM2B, FGF12, DGAT2, ARV1, STUB1, PUM1, OTUD4, NAT8L, ZIC4, VARS, TDP2, TRPC3, TELO2, SLC6A19, RNF168, ERCC5, SCYL1, RNF216, RNASEH1, RTN4IP1, ELOVL5, PTRH2, DMXL2, PCNA, PIK3R5, NOL3, GRID2, LAMA1, SLC52A2, EBF3, COL18A1, DOCK3, ATCAY, BEAN1, CAMTA1, CACNA1G, CTBP1, ATP2B3, ATP8A2, RARS, NAXE, AAAS, NUP62, UBA5, MECR, COX20, TBCE, SEPSECS, XRCC4, ZIC1, CA8, CCDC88C, ARL6IP1, IBA57, TUBB, LRP4, DNAJC3, HEPACAM, HERC1, CSPP1, PDE6D, TMEM107, CEP120, CEP104, KIAA0556, SAMD9L, TCTN3, PGM3, SLC25A46, ADA2, SLC39A4, GSS, GCLC, LIG4, ERCC8, APOB, SLC20A2, TPK1, SLC46A1, PRNP, COG4, MT-TP, SCO1, COX10, MARS2, VLDLR, EOMES, ARL13B, CPLANE1, CEP41, KIF7, RPGRIP1L, TCTN1, TCTN2, TMEM138, TMEM237, TTC21B, B9D1, ERCC4, CP, FTL, GJA1, CTC1, RNASET2, HNRNPH2, PGK1, CTDP1, AP4M1, AP4E1, AP4B1, AP4S1, ERLIN2, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, UCHL1, C19orf12, KIF1C, NT5C2, ENTPD1, CPT1C, MAG, HACE1, CAPN1, KIDINS220, ERLIN1, ERCC6, CHMP1A, PIEZO2, GMPPB, FBXL4, NKX2-1, CAV1, IFT140, GAN, LRSAM1, MME, NALCN, TSEN2, TSEN34, EXOSC3, CLCN2, SLC16A2, DKC1, NEU1, MVK, PEX10, PEX26, PEX16, KIAA0586, AP1S2, PRPS1, SLC19A2, SOX10, DNMT1, POLR1C, ERCC3, CLPP, HTRA1, GFAP, CUL4B, CASK, OPHN1, OFD1, TCF4, KCNJ10, PNKP, SPTAN1, SCN8A, ROGDI, SLC13A5, SNAP25, KCNA2, ATP13A2, MFSD8, DNAJC5, CTSF, ADGRG1, TSEN54, RELN, DCX, BRAT1, PRRT2, TBC1D24, SCARB2, MBD5, LMNB2, EPM2A, KCNC1, KCNQ2, HCN1, FOLR1, SLC6A1, SCN2A, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, GABRB3, ATP1A3, ATP1A2, LARGE1, POMGNT2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, TDP1, ANO10, SYT14, SLC1A3, CACNB4, KCNA1, ISPD, POMT1, POMT2, TRAPPC11, SYNE1, VRK1, DYNC1H1, SETX, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, GCH1, CACNA1A, FKRP, AHI1, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, GJB1, DNM2, EGR2, PMP22, MPZ, SH3TC2, PRX, TMEM216, PLA2G6, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, POMGNT1, PEX1, MLC1, TH, SACS, PEX7, PPT1, PEX2, FKTN, CLN8, CLN6, PRF1, SDHD, NF2, MRE11, ATM, WDR62, TINF2, SLC2A1, PLP1, PCDH19, NPC2, NPC1, GJC2, FOXG1, EIF2B1, CDKL5, ARSA, PNP, SDHA, MTFMT, FARS2, TACO1, SOD1, PNKD, WWOX, TPP1, ASL, APTX, MKS1, PMM2, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GBE1, L2HGDH, GALC, DLAT, SUCLG1, DBT, HIBCH, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, CTSA, MPV17, PTS, PHYH, HEXB, ALDH5A1, SUOX, HEXA, TCN2, MMADHC, ABCD1, SLC9A6, ABCB7, PDHA1, OTC, SQSTM1, ETHE1, TYMP, ALG6, SPG7, COQ2, GRN, DPM1, FLVCR1, MPDU1, CTSD, DNAJC19, REEP1, TSFM, DARS2, RARS2, TUBA1A, RFT1, COQ8A, STXBP1, SPR, GAMT, GPI, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, TMEM70, PDHB, ALDH18A1, COX14, NDUFA9, NDUFB3, HARS, NDUFA12, ACO2, COQ6, PDSS1, PDSS2, COQ9, MECP2, OPA3, PANK2, KIF1B, NDUFAF2, RRM2B, FOXRED1, AFG3L2, HSPD1, NDUFS4, POLG, DLD, CEP290, NPHP1, TMEM67, ELOVL4, CC2D2A, GLB1, PSAP, WFS1, OPA1, CPS1, HSD17B4, AMACR, INPP5E, PSEN1, PAX6, PRKCG, ADSL, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, BTD, HLCS, UQCRB, UQCRQ, PC, ABHD12, AARS2, UBE3A, TTR, FMR1 Specificity 1 % Genes 7 %
APOB. By Institute for Human Genetics University Clinic Freiburg in Germany. APOB Specificity 100 % Genes 4 %
Familial hypercholesterolemia. By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
FHNext. By Ambry Genetics in United States. SLCO1B1, APOB, LDLRAP1, PCSK9, LDLR Specificity 20 % Genes 4 %
APOB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. APOB Specificity 100 % Genes 4 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. APOB Specificity 100 % Genes 4 %
APOB. Detection of the mutations p.Arg3500Gln, p.Arg3500Trp and p.Arg3531Cys by sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. APOB Specificity 100 % Genes 4 %
APOB. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. APOB Specificity 100 % Genes 4 %
APOB, PCSK9, LDLRAP1, LDLR. NextGeneDx. Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Congenital Diarrhea Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553462 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 4 %
Congenital Diarrhea Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553495 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 4 %
Congenital Diarrhea Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR , (...) View the complete list with 1 more genes Panel GTR000553500 complete gene list SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, PNLIP, SLC5A1, LCT, SAR1B, SKIV2L, TTC37, SI, NEUROG3, APOB, FLNA, MTTP, PCSK1, CFTR, EPCAM Specificity 5 % Genes 4 %
Hypobetalipoproteinemia, familial (sequence analysis of APOB gene). By CGC Genetics in Portugal. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia (frequent mutations of APOB gene). By CGC Genetics in Portugal. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia, familial (NGS panel for 15 genes). By CGC Genetics in Portugal. LRP6, ITIH4, EPHX2, PPP1R17, APOA2, ABCA1, APOB, LDLRAP1, PCSK9, ABCG8, ABCG5, GHR, LIPA, LDLR, APTX Specificity 7 % Genes 4 %
Hypercholesterolemia, familial (NGS panel for 3 genes). By CGC Genetics in Portugal. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
Hypercholesterolemia, autosomal dominant, type B. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. APOB Specificity 100 % Genes 4 %
Familial hypercholesterolemia. By Unit for Cardiac and Cardiavasular Genetics Oslo University Hospital HF - Ullevaal in Norway. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial Hypercholesterolemia Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial Hypercholesterolemia and Hypobetalipoproteinemia via the APOB Gene. By PreventionGenetics PreventionGenetics in United States. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia Type B. By MGZ Medical Genetics Center in Germany. APOB, LDLR Specificity 50 % Genes 4 %
Neurogenetic Disorders - panels. By MGZ Medical Genetics Center in Germany. PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2 , (...) View the complete list with 577 more genes Panel GTR000552437 complete gene list PITRM1, KLC4, PTCD1, VPS11, TXN2, STAT2, PODXL, PPT2, GTPBP2, SLC25A26, KCNA4, SLC25A42, FLRT1, CCDC115, TANGO2, LONP1, TRIT1, RMND1, VARS2, TARS2, TRMT5, PARS2, MRPS7, MRPL44, NDUFB11, COQ7, IARS2, GTPBP3, COX8A, ARHGEF15, FLAD1, ISCA2, LYRM7, ARSI, USP8, WDR48, ZFR, NDUFB9, ATP2B4, CARS2, CAD, LARS, ATP5F1A, NPRL3, CACNA1B, EXOSC8, CLP1, AIMP1, UQCRC2, TALDO1, GPHN, PDE8B, SLC52A3, LMNB1, DGAT2, STUB1, SLC6A19, RNF216, RNASEH1, PTRH2, PIK3R5, NOL3, GRID2, SLC52A2, CACNA1G, ATP8A2, RARS, AAAS, ACY1, SLC30A10, ADCY5, GNAL, ECHS1, KCTD17, HPCA, ANO3, UBA5, CLPB, SERAC1, PDGFB, SLC1A4, PYCR2, SEPSECS, AMPD2, XRCC4, KCNH5, GRIK2, ARL6IP1, IBA57, ALG14, LRP4, PREPL, DNAJC3, HEPACAM, MICU1, SLC25A46, EPG5, PRKRA, RANBP2, XK, COQ8B, VPS35, EIF2AK3, ABCA1, APOB, HADH, SLC6A3, MR1, EARS2, FBXO7, TPK1, PRNP, CSF1R, SCO1, COX10, MARS2, DCAF17, COASY, CP, FTL, NBAS, GJA1, CCT5, RNASET2, ACTG2, FDX2, STAMBP, ZFYVE27, AP4M1, AP4E1, AP4B1, AP4S1, RAB3GAP2, ERLIN2, VPS37A, ADAR, DDHD1, TECPR2, DDHD2, CYP2U1, GBA2, TUBB4A, B4GALNT1, C19orf12, KIF1C, NT5C2, ENTPD1, PGAP1, CPT1C, MAG, REEP2, ERLIN1, MYBPC1, GMPPB, TOR1AIP1, HNRNPDL, DNA2, FBXL4, NKX2-1, TBK1, LYST, GAN, TFG, MARS, TUBB2A, EXOSC3, CLCN2, CLCN4, SLC16A2, TAF1, LAMP2, HCFC1, NEU1, PEX5, PEX12, PEX10, PEX26, PEX16, PEX3, PEX13, PEX19, PEX14, CHD8, CACNA1C, FUCA1, NARS2, PEX6, LARS2, SLC19A2, SOX10, DNMT1, NLRP3, PNPT1, POLR1C, CLPP, VPS13A, GFAP, TREX1, KDM5C, ARHGEF9, RNASEH2B, RNASEH2C, RNASEH2A, KCNJ10, SAMHD1, PNKP, TSEN54, RELN, QARS, COL4A1, PRRT2, DEPDC5, PRIMA1, TBC1D24, ASAH1, SCARB2, KCNMA1, MBD5, LMNB2, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNC1, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, FOLR1, STX1B, SYNJ1, SCN2A, SCN1B, SLC19A3, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ATP1A3, ATP1A2, COL6A3, CHKB, DPM2, LAMA2, SPTBN2, TTBK2, TGM6, FGF14, PDYN, ITPR1, KCNC3, KCND3, EEF2, VAMP1, GRM1, SIL1, ANO10, CHRNB1, CHRND, CHRNA1, AGRN, GFPT1, MUSK, COLQ, SLC1A3, CACNB4, KCNA1, SYNE1, BICD2, MTM1, UBQLN2, TARDBP, CHMP2B, SETX, RYR1, ALS2, SPG21, SPART, FA2H, AP5Z1, CYP7B1, KIF1A, PNPLA6, RTN2, WASHC5, BSCL2, SLC33A1, NIPA1, L1CAM, KIF5A, SPAST, CASR, SNCA, SGCE, LRRK2, GCH1, THAP1, TOR1A, CACNA1A, PPP2R2B, NOTCH3, APOE, MAPT, PSEN2, SCN1A, CSTB, SPG11, EIF2B4, EIF2B2, EIF2B3, ZFYVE26, ATL1, DNM2, GDAP1, RAPSN, PLA2G6, PHGDH, CIZ1, SLC6A5, GLRA1, GLRB, NOP56, COL4A2, FAM126A, RETREG1, PSAT1, SNX14, APOPT1, CHCHD10, PRDM8, POLR3B, POLR3A, TRNT1, PMPCA, RUBCN, COQ4, EIF2B5, CLN5, TTPA, SUMF1, SLC17A5, PEX1, MCOLN1, MLC1, TH, SACS, PEX7, PPT1, PEX2, MTTP, DOK7, CLN8, CLN6, CHRNE, SDHD, MRE11, ATM, SYNGAP1, SLC2A1, PLP1, PCDH19, NPC2, NPC1, MEF2C, GJC2, FOXG1, EIF2B1, CDKL5, GBA, ARX, ASPA, ARSA, MGME1, DPAGT1, SDHA, PDHX, MTFMT, SLC6A8, HARS2, FARS2, TACO1, PNKD, WWOX, KIF21A, CLN3, TPP1, SLC25A38, ASL, APTX, PRKN, SLC25A20, SLC22A5, CYP27A1, ASS1, COX6B1, FASTKD2, LRPPRC, FXN, GCDH, ETFDH, ETFA, ETFB, GBE1, L2HGDH, SLC25A15, IVD, GALC, DLAT, SUCLG1, DBT, HIBCH, MUT, MMAA, MMAB, MCEE, NDUFAF5, NDUFS2, NDUFS6, NDUFV2, NDUFV1, NDUFS1, NDUFAF4, NDUFA11, NDUFA1, NDUFAF3, SDHAF1, MOCS1, MOCS2, CHAT, CPT1A, ISCU, NDUFAF6, NDUFS3, NDUFS7, NDUFS8, SURF1, COX15, NDUFA2, MPV17, ACOX1, ALDH7A1, PHYH, HEXB, ALDH3A2, HEXA, ABHD5, ABCD1, AIFM1, ABCB7, TAZ, TIMM8A, PDHA1, OTC, PUS1, SQSTM1, ETHE1, TYMP, GAD1, SCO2, GLDC, PINK1, PCCA, PCCB, PARK7, SPG7, COQ2, NDUFA13, GRN, ALG2, PDP1, GFM1, SLC25A22, TK2, POLG2, DNAJC19, REEP1, MRPS16, TSFM, TUFM, PNPLA2, SLC25A3, DARS2, RARS2, MRPS22, COQ8A, SUCLA2, STXBP1, SDHB, COX4I2, SPR, SPTAN1, PLCB1, DYRK1A, SCN8A, WDR45, DOCK7, SLC13A5, SNAP25, SIK1, EEF1A2, SPATA5, HNRNPU, ATP13A2, GAMT, SLC25A12, TMEM126A, GFER, KARS, NUBPL, NDUFA10, MTPAP, TTC19, NDUFAF1, NFU1, SARS2, TMEM70, PDHB, BOLA3, DGUOK, ALDH18A1, AGK, COX14, NDUFA9, NDUFB3, NDUFA12, COQ6, PDSS1, PDSS2, COQ9, MTO1, MECP2, VCP, OPA3, PANK2, SDHC, MFN2, ALAS2, NDUFAF2, RRM2B, FOXRED1, AFG3L2, GARS, SLC25A4, SLC25A19, HSPD1, NDUFS4, POLG, DLD, ELOVL4, PSAP, WFS1, TRMU, OPA1, CPT2, CPS1, HSD17B4, AMACR, SDHAF2, TUBB3, PSEN1, APP, PRKCG, MMACHC, C12orf65, TWNK, BCS1L, BCKDHB, BCKDHA, AUH, ATPAF2, ATP7B, ATP5F1E, UQCRB, ARG1, UQCRQ, PC, YARS2, ACADVL, AGL, ACADS, ACADM, ACAD9, ABHD12, AARS2, UBE3A, TTR, MTHFR Specificity 1 % Genes 4 %
Familial Hypercholesterolemia Type B. By Bioscientia GmbH Center for Human Genetics in Germany. APOB Specificity 100 % Genes 4 %
Hypobetalipoproteinemia type 1. By Centogene AG - the Rare Disease Company in Germany. APOB Specificity 100 % Genes 4 %
Hypobetalipoproteinemia type 1. By Centogene AG - the Rare Disease Company in Germany. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia type B autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia Type B. By bio.logis Center for Human Genetics Diagnosticum in Germany. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia, familial, APOB. By GGA - Galil Genetic Analysis in Israel. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia Type B (APOB, FDB). By MVZ Dortmund Dr. Eberhard & Partner in Germany. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia. By Asper Biogene Asper Biogene LLC in Estonia. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial hypercholesterolemia. By Health in Code in Spain. APOB, LDLR Specificity 50 % Genes 4 %
Inherited Cardiovascular Diseases and Sudden Death Panel. By Health in Code in Spain. FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA , (...) View the complete list with 193 more genes Panel GTR000521465 complete gene list FHOD3, FOXD4, SMAD1, TRIM63, KLF10, LRP6, CALR3, MIB1, TBX20, CAVIN4, APOC3, ADAMTSL4, KCNE5, CTNNA3, SCN10A, OBSL1, ANK3, AGPAT2, GJA5, NPPA, GATA6, APOA5, APOB, PCSK9, CETP, CRELD1, GATA4, TMPO, TXNRD2, FHL2, CTF1, GJA1, TBX5, PRKG1, VCL, DTNA, MYL3, MYL2, DSC2, CSRP3, ACTN2, RBM20, MYOZ2, JPH2, GATAD1, TNNT2, TPM1, RANGRF, MYPN, JUP, DSG2, NEXN, PLN, PRKAG2, MYH6, TNNI3, TNNC1, ANKRD1, NKX2-5, PRDM16, LAMA4, TGFB3, MYLK2, ACTC1, NEBL, PDLIM3, BMPR2, KCNA5, SMAD9, CAV1, KCNK3, GDF2, BMPR1B, ACVRL1, SCN4B, AKAP9, CASQ2, SNTA1, KCNJ5, KCNE2, TRDN, CALM2, CALM1, RYR2, ANK2, PKP2, GPD1L, CACNB2, KCNE3, SCN3B, SCN2B, ABCC9, KCNJ8, SLMAP, TRPM4, MYH11, SLC2A10, ACTA2, FBN2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, SPRED1, LAMP2, CACNA1C, KCNQ1, KCNE1, CACNA1D, TBX1, CACNA2D1, FLNA, SCN5A, HCN4, SCN1B, KCNH2, LAMA2, KCND3, KCNJ2, SGCD, TCAP, EMD, TMEM43, ACTA1, MYBPC3, FHL1, BAG3, BSCL2, LDB3, MYOT, FLNC, MYH7, DES, TTN, CAV3, FKRP, NOTCH3, PSEN2, LMNA, CAPN3, SGCB, SGCA, FKTN, ENG, SMAD4, CBL, MAP2K2, SOS1, SHOC2, PTPN11, PLOD1, NRAS, MAP2K1, LDLR, KRAS, HRAS, GLA, DMD, BRAF, DOLK, COL5A2, COL5A1, ALMS1, PMM2, SLC22A5, COX6B1, CBS, MLYCD, GUSB, SURF1, COX15, PHKA1, TAZ, PDHA1, COQ2, GFM1, DNAJC19, TSFM, MRPS22, FAH, TMEM70, AGK, LIAS, MRPL3, MTO1, FBN1, RAF1, CRYAB, SLC25A4, DLD, DSP, JAG1, PITX2, GLB1, GNPTAB, EYA4, ELN, PSEN1, COL3A1, COL1A2, COL1A1, GAA, ATPAF2, ACADVL, AGL, ACADM, ACAD9, AARS2, TTR, HFE Specificity 1 % Genes 4 %
Familial hypercholesterolemia Basic Panel. By Health in Code in Spain. SLCO1B1, APOB, LDLRAP1, PCSK9, APOE, LDLR Specificity 17 % Genes 4 %
Familial hypercholesterolemia Extended Panel. By Health in Code in Spain. CH25H, PPARA, LPA, SLC22A8, CYP3A5, CYP3A4, SLCO1B1, APOB, LDLRAP1, PCSK9, NPC1L1, CYP2D6, ABCG8, ABCG5, AMPD1, ABCB1, RYR1, APOE, LIPA, LDLR , (...) View the complete list with 3 more genes Panel GTR000530666 complete gene list CH25H, PPARA, LPA, SLC22A8, CYP3A5, CYP3A4, SLCO1B1, APOB, LDLRAP1, PCSK9, NPC1L1, CYP2D6, ABCG8, ABCG5, AMPD1, ABCB1, RYR1, APOE, LIPA, LDLR, PYGM, COQ2, CPT2 Specificity 5 % Genes 4 %
Familial Hypercholesterolaemia Genetic Screen. By Cardiovascular Genetics Laboratory PathWest Laboratory Medicine WA in Australia. STAP1, APOB, LDLRAP1, PCSK9, ABCG8, ABCG5, APOE, LIPA, LDLR Specificity 12 % Genes 4 %
Familial hypercholesterolemia (APOB, LDLR, PCSK9). By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
Hypercholesterolemia, due to ligand-defective apo B. By Praxis fuer Humangenetik Wien in Austria. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia, due to ligand-defective apo B. By MedGene in Slovakia. APOB Specificity 100 % Genes 4 %
Invitae Familial Hypercholesterolemia Panel. By Invitae in United States. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
APOB: APOB gene mutation analysis (p.Arg3500Gln). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. APOB Specificity 100 % Genes 4 %
APOB: APOB gene mutations analysis (p.Arg3500Gln, p.Arg3500Trp, p.His3543Tyr). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. APOB Specificity 100 % Genes 4 %
APOB: APOB gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. APOB Specificity 100 % Genes 4 %
Hypercholesterolemia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Hypobetalipoproteinemia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. ANGPTL3, APOB, PCSK9, MTTP Specificity 25 % Genes 4 %
Early-Onset Coronary Artery Disease/Familial Hypercholesterolemia Full Gene Sequencing Panel. By Integrated Genetics Westborough Integrated Genetics in United States. PON2, APOC3, APOA2, ABCA1, APOB, PCSK9, LDLR Specificity 15 % Genes 4 %
Familial Hypercholesterolemia Profile. By Integrated Genetics Westborough Integrated Genetics in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
Intellectual Disability NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1 , (...) View the complete list with 372 more genes Panel GTR000509442 complete gene list AQP7, TPH2, AFP, XIST, SNIP1, ZBTB24, GLUL, DIP2B, KCNK9, UPB1, CEP57, FTO, ZBTB16, TMCO1, IRX5, AGT, IGF1R, MRAP, HDAC4, IGF1, GLRA1, SLC5A2, TRHR, FAM126A, HOXD10, NGF, AVP, AP1S1, BUB1B, WDR81, UROC1, ERCC5, CAMTA1, CEP41, KIF7, RPGRIP1L, SLC6A4, SATB2, CP, SLX4, ABCG5, FANCG, GNAS, NHP2, CTC1, GNPAT, EFNB1, ALX4, THRB, LHX3, PGK1, KIF11, AP4M1, AP4E1, AP4B1, AP4S1, ADAR, ARID1A, SMARCB1, SMARCA4, ERCC6, SDCCAG8, SLC4A4, LYST, GAN, GLI3, GNPTG, ABCC6, FBN2, NAGA, PCNT, ZIC2, TGIF1, NSUN2, TWIST1, IL1RAPL1, ARHGEF6, NSDHL, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, USP9X, UPF3B, UBE2A, TSPAN7, EBP, DLG3, MAGT1, LAMP2, MBTPS2, AFF2, AGTR2, HUWE1, IGBP1, PHF8, CANT1, NLGN3, CTNNB1, ARID1B, AP1S2, EHMT1, FOXP1, KIRREL3, SOX10, ERCC3, ERCC2, SHANK2, SHANK3, LBR, TBX1, GFAP, VPS13B, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, KDM5C, PAK3, GRIA3, SYP, FGD1, IQSEC2, ATRX, SMS, OFD1, CNTNAP2, KCNJ10, SAMHD1, SPTAN1, PIGV, DYRK1A, GRIN1, NRXN1, SCN8A, ST3GAL3, ATP13A2, MFSD8, TUBB2B, SRPX2, PAFAH1B1, TUBA8, PQBP1, PIGO, TBC1D24, MBD5, GRIN2A, GABRG2, CHRNA4, KCNQ2, GRIN2B, PRICKLE1, KCTD7, CPA6, ATP1A2, ASPM, MCPH1, ITGA7, LARGE1, LAMA2, FGF14, GRM1, SIL1, SYT14, POMT1, POMT2, DYNC1H1, BIN1, KIF1A, L1CAM, KIF5A, AVPR2, GHR, POU1F1, KCNJ11, FGFR1, NF1, FKRP, AHI1, MAPT, SCN1A, ZFYVE26, ATL1, SPTLC1, MPZ, TMEM216, DPYD, RAPSN, PLA2G6, POMGNT1, MCOLN1, TH, SACS, SLC7A7, SGCA, PEX7, FKTN, PRKAR1A, BRIP1, CDKN1C, NBN, ATM, NIPBL, TSC1, SMC1A, SYNGAP1, TSC2, HDAC8, FGFR2, WDR62, TINF2, SLC2A1, RAI1, PTPN11, PLP1, PCDH19, NPC2, NPC1, MEF2C, KRAS, IDS, FOXG1, DMD, DHCR7, CHD7, CDKL5, GBA, ARX, AR, FGFR3, TSHR, HPD, PDHX, MTFMT, SLC6A8, KIF21A, PPOX, CLN3, SOX2, BBS9, MGAT2, CYP27A1, ASS1, GLYCTK, GALE, GBE1, CBS, SLC25A15, ALDH4A1, SUCLG1, MAN2B1, MANBA, DBT, CYB5R3, NDUFAF5, NDUFS1, NDUFA1, MOCS2, SGSH, GUSB, CTSA, PAH, ACOX1, SLC35C1, HEXB, GM2A, LMBRD1, MMADHC, ABCD1, SLC9A6, AMER1, ACSL4, AIFM1, D2HGDH, STRA6, MYO7A, MPI, ALG6, ALG12, AP3B1, COG7, GFM1, HAX1, TUSC3, DARS2, TUBA1A, STXBP1, SPR, GAMT, SLC25A12, PHKG2, PYGL, XPNPEP3, PHKA2, TMEM70, ALDH18A1, PDSS1, FBN1, MECP2, SLC25A13, GCK, HSPD1, CEP290, MKKS, NPHP3, TMEM67, NDP, ELOVL4, HSD17B10, SRD5A3, CC2D2A, GNPTAB, PYCR1, ACY1, TBCE, SLC5A5, WRN, ORC1, CC2D1A, CRBN, GRIK2, MAN1B1, PRSS12, TRAPPC9, CDH15, SOBP, MED23, TECR, CACNG2, CRADD, MED17, CCDC88C, PDE4D, ZFP57, HEPACAM, PIGL, TTC37, GSS, STAT5B, LIG4, NHEJ1, G6PC3, STX11, ERCC8, INSR, MYO5A, DHCR24, RFX6, SLC2A2, APOB, MAT1A, SLC20A2, TPK1, SLC46A1, TMEM165, COG5, ALG11, VLDLR, MYCN, RBBP8, CPS1, MTR, TUBB3, PAX6, COL1A2, LRP5, FBLN5, ADSL, BCS1L, AUH, ATP7A, ARG1, GYS2, ACAT1, AGL, MCCC2, MCCC1, PTEN, UBE3A, TTR, MTHFR, FMR1, F5, BRCA2 Specificity 1 % Genes 4 %
APOB. By Fulgent Genetics Fulgent Genetics in United States. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia (FH) Panel. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
Familial Hypercholesterolemia (FH), Single Site. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
Hyperlipidemia Core Panel. By Blueprint Genetics in Finland. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Genetic Study of Familial Hypercholesterolemia. By HeartGenetics, Genetics and Biotechnology, SA in Portugal. STAP1, APOB, LDLRAP1, PCSK9, APOE, LDLR Specificity 17 % Genes 4 %
Familial hypobetalipoproteinemia. By Bioarray in Spain. APOB Specificity 100 % Genes 4 %
Familial hypercholesterolemia type B. By Bioarray in Spain. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial Hypercholesterolemia, Autosomal Dominant NGS Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
APOB Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. APOB Specificity 100 % Genes 4 %
iGene Cardiac Panel. By ApolloGen, Inc. in United States. APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA , (...) View the complete list with 2 more genes Panel GTR000525920 complete gene list APOB, PCSK9, MYL3, TNNT2, TPM1, DSG2, PRKAG2, TNNI3, ACTC1, RYR2, PKP2, KCNQ1, SCN5A, KCNH2, MYBPC3, MYH7, TTN, LMNA, LDLR, GLA, DSP, COL3A1 Specificity 5 % Genes 4 %
Familial Hypercholesterolemia. By Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease Montreal Heart Institute in Canada. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial Hypercholesterolemia. By Color Genomics, Inc. Color Genomics, Inc. in United States. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
FAMILIAL HYPERCHOLESTEROLEMIA. By Laboratorio de Genetica Clinica SL in Spain. APOB, PCSK9, LDLR Specificity 34 % Genes 4 %
FAMILIAL HYPOBETALIPOPROTEINEMIA. By Laboratorio de Genetica Clinica SL in Spain. ANGPTL3, APOB, PCSK9, MTTP Specificity 25 % Genes 4 %
ABETALIPOPROTEINEMIA. By Laboratorio de Genetica Clinica SL in Spain. APOB, MTTP Specificity 50 % Genes 4 %
Apolipoprotein B Deficiency, Sequencing APOB Gene. By Reference Laboratory Genetics in Spain. APOB Specificity 100 % Genes 4 %
Apolipoprotein B Deficiency , Mutations (p.Arg3500Gln,p.Arg3500Trp,p.His3543Tyr) APOB Gene. By Reference Laboratory Genetics in Spain. APOB Specificity 100 % Genes 4 %
Apolipoprotein B Deficiency, Mutation (p.Arg3500Gln) APOB Gene. By Reference Laboratory Genetics in Spain. APOB Specificity 100 % Genes 4 %
Familial Hypercholesterolemia , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
Familial Hypobetalipoproteinemia , Panel Massive Sequencing (NGS) 4 Genes. By Reference Laboratory Genetics in Spain. ANGPTL3, APOB, PCSK9, MTTP Specificity 25 % Genes 4 %
Hypercholesterolemia, autosomal dominant, type B. By Labor Dr. Wisplinghoff in Germany. APOB Specificity 100 % Genes 4 %
Phosphorus Familial Hypercholesterolemia Panel. By Phosphorus Diagnostics LLC in United States. APOB, LDLRAP1, PCSK9, LDLR Specificity 25 % Genes 4 %
IL10. By Institute for Human Genetics University Clinic Freiburg in Germany. IL10 Specificity 100 % Genes 4 %
Autoinflammatory panel. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. PLCG2, IL10, NLRP7, IL1RN, PSENEN, NCSTN, IL36RN, NLRP12, PSTPIP1, IL10RB, IL10RA, TNFRSF1A, LPIN2, NOD2, SH3BP2, MEFV, PSMB8, MVK, NLRP3 Specificity 27 % Genes 18 %
Autoinflammatory diseases Panel. By CeGaT GmbH in Germany. PLCG2, RBCK1, IL10, IL1RN, CARD14, IL36RN, NLRP12, PSTPIP1, IL10RB, IL10RA, TNFRSF1A, LPIN2, SLC29A3, NOD2, SH3BP2, MEFV, PSMB8, MVK, NLRP3, HFE Specificity 25 % Genes 18 %
Invitae Autoinflammatory Syndromes Panel. By Invitae in United States. NFAT5, ADAM17, COPA, PLCG2, RBCK1, IL10, IL1RN, CARD14, IL36RN, TRNT1, NLRP12, PSTPIP1, ADA2, IL10RB, NLRC4, IL10RA, TNFRSF1A, LPIN2, ELANE, SLC29A3 , (...) View the complete list with 6 more genes Panel GTR000553798 complete gene list NFAT5, ADAM17, COPA, PLCG2, RBCK1, IL10, IL1RN, CARD14, IL36RN, TRNT1, NLRP12, PSTPIP1, ADA2, IL10RB, NLRC4, IL10RA, TNFRSF1A, LPIN2, ELANE, SLC29A3, NOD2, SH3BP2, MEFV, PSMB8, MVK, NLRP3 Specificity 24 % Genes 21 %
IL10. By Fulgent Genetics Fulgent Genetics in United States. IL10 Specificity 100 % Genes 4 %
Congenital Diarrhea Panel. By Blueprint Genetics in Finland. SLC10A2, ADAM17, IL21, SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, SLC5A1, LCT, SAR1B, IL10, IL10RB, SKIV2L, TTC7A, TTC37, SI, IL10RA , (...) View the complete list with 7 more genes Panel GTR000552661 complete gene list SLC10A2, ADAM17, IL21, SPINT2, GUCY2C, DGAT1, SLC9A3, STX3, MYO5B, SLC26A3, SLC5A1, LCT, SAR1B, IL10, IL10RB, SKIV2L, TTC7A, TTC37, SI, IL10RA, XIAP, NEUROG3, NCF2, MVK, LIPA, CYP27A1, EPCAM Specificity 4 % Genes 4 %
Immune Report Card. By OmniSeq, Inc. in United States. LAG3, ICOSLG, ENTPD1-AS1, GATA3-AS1, ADORA2A, TNFRSF18, TNFRSF14, TNFRSF9, HAVCR2, GZMB, IDO1, KLRD1, BTLA, VSIR, CXCL10, CXCR6, PDCD1LG2, CD38, CD68, CCR2 , (...) View the complete list with 27 more genes Panel GTR000558798 complete gene list LAG3, ICOSLG, ENTPD1-AS1, GATA3-AS1, ADORA2A, TNFRSF18, TNFRSF14, TNFRSF9, HAVCR2, GZMB, IDO1, KLRD1, BTLA, VSIR, CXCL10, CXCR6, PDCD1LG2, CD38, CD68, CCR2, CD163, CD86, CD28, CD80, CD2, MX1, TBX21, CD244, CD4, TNF, TNFSF4, CD8A, IL1B, IFNG, IL10, DDX58, MS4A1, ICOS, CTLA4, CD27, CD40LG, CD40, CSF1R, CCL2, FOXP3, TGFB1, STAT1 Specificity 3 % Genes 4 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes. By Reference Laboratory Genetics in Spain. PTGER4, IRGM, IL23R, FUT2, ATG16L1, ADAM17, IL6, IL17RA, IL21R, IL21, GUCY2C, MYO5B, NCF1, PLCG2, IL10, IL2RA, IL10RB, ICOS, CARD9, IL17F , (...) View the complete list with 25 more genes Panel GTR000559806 complete gene list PTGER4, IRGM, IL23R, FUT2, ATG16L1, ADAM17, IL6, IL17RA, IL21R, IL21, GUCY2C, MYO5B, NCF1, PLCG2, IL10, IL2RA, IL10RB, ICOS, CARD9, IL17F, IL10RA, CTLA4, WIPF1, STXBP2, XIAP, CD40LG, NOD2, WRAP53, NCF4, NCF2, SH2D1A, TERT, TERC, ABCB1, DKC1, FOXP3, FOXP1, GATA3, WAS, CYBB, TINF2, IKBKG, IL2RG, CYBA, TGFB1 Specificity 7 % Genes 11 %
TFCP2L1. By Fulgent Genetics Fulgent Genetics in United States. TFCP2L1 Specificity 100 % Genes 4 %
PSTPIP1 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. PSTPIP1 Specificity 100 % Genes 4 %
PSTPIP1. By Institute for Human Genetics University Clinic Freiburg in Germany. PSTPIP1 Specificity 100 % Genes 4 %
Periodic Fever Syndromes Panel, Sequencing, 7 Genes and Deletion/Duplication, 6 Genes. By ARUP Laboratories, Molecular Genetics and Genomics in United States. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
PSTPIP1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. PSTPIP1 Specificity 100 % Genes 4 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (sequence analysis of PSTPIP1 gene). By CGC Genetics in Portugal. PSTPIP1 Specificity 100 % Genes 4 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNFAIP3, CARD14, IL36RN, NLRP12, PSTPIP1, TNFRSF1A, LPIN2, ELANE, NOD2, MEFV, PSMB8, MVK, NLRP3 Specificity 31 % Genes 14 %
PAPA. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. PSTPIP1 Specificity 100 % Genes 4 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne. By Centogene AG - the Rare Disease Company in Germany. PSTPIP1 Specificity 100 % Genes 4 %
Single gene testing PSTPIP1. By CeGaT GmbH in Germany. PSTPIP1 Specificity 100 % Genes 4 %
Invitae Periodic Fever Syndromes Panel. By Invitae in United States. TRNT1, NLRP12, PSTPIP1, ADA2, NLRC4, TNFRSF1A, LPIN2, ELANE, MEFV, PSMB8, MVK, NLRP3 Specificity 34 % Genes 14 %
Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, Syndrome: PSTPIP1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PSTPIP1 Specificity 100 % Genes 4 %
Periodic fever syndromes. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
Hereditary Periodic Fever Syndromes: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
Hereditary Periodic Fever Syndromes: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
Periodic Fevers Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
PSTPIP1. By Fulgent Genetics Fulgent Genetics in United States. PSTPIP1 Specificity 100 % Genes 4 %
Autoinflammatory Syndrome Panel. By Blueprint Genetics in Finland. OTULIN, PLCG2, ACP5, DDX58, IL1RN, PSENEN, TNFAIP3, NLRP1, CARD14, IL36RN, TRNT1, TMEM173, NLRP12, PSTPIP1, ISG15, NLRC4, TNFRSF1A, LPIN2, ELANE, SLC29A3 , (...) View the complete list with 12 more genes Panel GTR000552641 complete gene list OTULIN, PLCG2, ACP5, DDX58, IL1RN, PSENEN, TNFAIP3, NLRP1, CARD14, IL36RN, TRNT1, TMEM173, NLRP12, PSTPIP1, ISG15, NLRC4, TNFRSF1A, LPIN2, ELANE, SLC29A3, NOD2, MEFV, ADAR, IFIH1, PSMB8, MVK, NLRP3, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1 Specificity 13 % Genes 14 %
Pyogenic arthritis - pyoderma gangrenosum - acne. By Bioarray in Spain. PSTPIP1 Specificity 100 % Genes 4 %
Periodic Fever NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NLRP12, PSTPIP1, TNFRSF1A, LPIN2, ELANE, NOD2, MEFV, MVK, NLRP3 Specificity 45 % Genes 14 %
PSTPIP1 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. PSTPIP1 Specificity 100 % Genes 4 %
PYOGENIC, ARTHRITIS, PYODERMA GANGRENOSUM AND ACNE. By Laboratorio de Genetica Clinica SL in Spain. PSTPIP1 Specificity 100 % Genes 4 %
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum and Acne (PAPA), Sequencing PSTPIP1 Gene. By Reference Laboratory Genetics in Spain. PSTPIP1 Specificity 100 % Genes 4 %
Hereditary Systemic Autoinflammatory Diseases , Panel Massive Sequencing (NGS) 6 Genes. By Reference Laboratory Genetics in Spain. PSTPIP1, TNFRSF1A, NOD2, MEFV, MVK, NLRP3 Specificity 67 % Genes 14 %
Periodic Fever and Related Syndromes, Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. PSTPIP1, TNFRSF1A, LPIN2, ELANE, MEFV, MVK, NLRP3 Specificity 43 % Genes 11 %
PSORS1C1. By Fulgent Genetics Fulgent Genetics in United States. PSORS1C1 Specificity 100 % Genes 4 %
STAT4. By Fulgent Genetics Fulgent Genetics in United States. STAT4 Specificity 100 % Genes 4 %
IL23R. By Fulgent Genetics Fulgent Genetics in United States. IL23R Specificity 100 % Genes 4 %
ERAP1. By Fulgent Genetics Fulgent Genetics in United States. ERAP1 Specificity 100 % Genes 4 %
Plasminogen Activator Inhibitor Type 1 Genotyping. By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories in United States. SERPINE1 Specificity 100 % Genes 4 %
MTHFR, FII, FV, PAI. Simultaneous analysis of the polymorphims FII (c.20210G>A), FV (p.R506Q), MTHFR (c.677C>T) and 5G/4G in the 5´UTR region of the PAI gene. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. SERPINE1, MTHFR, F5, F2 Specificity 25 % Genes 4 %
Test for Plasminogen Activator Inhibitor I. By CIBIC S.A. in Argentina. SERPINE1 Specificity 100 % Genes 4 %
PAI1 deficiency (frequent mutations on SERPINE1 gene). By CGC Genetics in Portugal. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen activator inhibitor-1 deficiency (sequence analysis of SERPINE1 gene). By CGC Genetics in Portugal. SERPINE1 Specificity 100 % Genes 4 %
Thrombophilia, PAI-1 deficiency (polimorphisms on SERPINE1 gene). By CGC Genetics in Portugal. SERPINE1 Specificity 100 % Genes 4 %
Thrombophilia (F2 + FV Leiden + MTHFR genes) and PAI-1 deficiency frequent mutations on SERPINE1 gene). By CGC Genetics in Portugal. SERPINE1, MTHFR, F5, F2 Specificity 25 % Genes 4 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36 , (...) View the complete list with 41 more genes Panel GTR000512341 complete gene list LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, GP9, TUBB1, ACTN1, FLI1, PRKACG, F7, VKORC1, GP1BB, SERPINE1, MASTL, ITGA2B, ITGB3, CD36, GFI1B, HOXA11, ITGA2, NBEAL2, PLAU, TBXAS1, P2RY12, P2RX1, FGG, TBXA2R, GGCX, FGB, FGA, GP6, ANO6, GP1BA, ABCG8, ABCG5, ADAMTS13, F8, F9, VWF, F11, GATA1, MYH9, FLNA, WAS, MPL, ANKRD26, AP3B1, CYCS, HPS3, HPS4, HPS5, HPS6, BLOC1S3, HPS1, DTNBP1, RUNX1, F5, F2 Specificity 2 % Genes 4 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LMAN1, SERPINF2, MCFD2, F13B, F13A1, F12, F10, F7, VKORC1, SERPINE1, FGG, GGCX, FGB, FGA, F8, F9, VWF, F11, F5, F2 Specificity 5 % Genes 4 %
Plasminogen activator inhibitor 1. By DNA Diagnostics Laboratory University Hospital Ostrava in Czech Republic. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen activator inhibitor type 1. By Centogene AG - the Rare Disease Company in Germany. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen activator inhibitor type 1 deficiency. By bio.logis Center for Human Genetics Diagnosticum in Germany. SERPINE1 Specificity 100 % Genes 4 %
Platelets, Coagulation disorders Panel. By CeGaT GmbH in Germany. SERPINC1, F13A1, DSG1, F12, F10, PDGFRB, ETV6, TET2, SERPINE1, ADAMTS13, F8, VWF, F11, ENTPD1, VHL, F5, F2 Specificity 6 % Genes 4 %
Plasminogen Activator Inhibitor (4G/5G polymorphism, SERPINE1). By MVZ Dortmund Dr. Eberhard & Partner in Germany. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen activator inhibitor-1 deficiency. By Praxis fuer Humangenetik Wien in Austria. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen activator inhibitor-1 (PAI1) deficiency: 4G / 5G polymorphism PAI1 gene. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen Activator Inhibitor - 4G/5G. By Quest Diagnostics Nichols Institute Chantilly in United States. SERPINE1 Specificity 100 % Genes 4 %
SERPINE1. By Fulgent Genetics Fulgent Genetics in United States. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. SERPINE1 Specificity 100 % Genes 4 %
Plasminogen Activator Inhibitor-1 (PAI-1) 4G/5G (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. SERPINE1 Specificity 100 % Genes 4 %
PAI1 4G. By IBC Instituto de Bioquimica Clinica SRL IBC Instituto de Bioquimica Clinica SRL in Argentina. SERPINE1 Specificity 100 % Genes 4 %
Genetic Study of Hereditary Thrombophilia (11 genes). By HeartGenetics, Genetics and Biotechnology, SA in Portugal. PROCR, SERPINC1, F13A1, F12, PROS1, SERPINE1, GP1BA, MTHFR, F5, F2 Specificity 10 % Genes 4 %
Thrombophilia Panel. By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran. SERPINE1, MTHFR, F5, F2 Specificity 25 % Genes 4 %
Thrombophilia Panel. By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran. SERPINE1, MTHFR, F5, F2 Specificity 25 % Genes 4 %
PLASMINOGEN ACTIVATOR INHIBITOR TYPE 1 DEFICIENCY. By Laboratorio de Genetica Clinica SL in Spain. SERPINE1 Specificity 100 % Genes 4 %
PAI-1 gene polymorphism. By Genomic Laboratory Semmelweis University in Hungary. SERPINE1 Specificity 100 % Genes 4 %
Ankylosing Spondylitis (HLAB27) Genotyping. By ARUP Laboratories, Molecular Genetics and Genomics in United States. HLA-B Specificity 100 % Genes 4 %
Spondyloarthropathy, Susceptibility to. By Laboratory of Genetics HUSLAB in Finland. HLA-B Specificity 100 % Genes 4 %
HLA B27. By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital in India. HLA-B Specificity 100 % Genes 4 %
B57 Testing. By Immuno-Molecular Pathology University of Kentucky in United States. HLA-B Specificity 100 % Genes 4 %
HLA-B 1502 genotype. By Molecular Diagnosis Centre National University Hospital in Singapore. HLA-B Specificity 100 % Genes 4 %
HLA-B27 typing PCR. By Molecular Diagnosis Centre National University Hospital in Singapore. HLA-B Specificity 100 % Genes 4 %
HLA-B27. By Department for blood group serology and transfusion medicine Medical University Graz in Austria. HLA-B Specificity 100 % Genes 4 %
*HLA-B57:01 typing.** By Quest Diagnostics Nichols Institute Chantilly in United States. HLA-B Specificity 100 % Genes 4 %
*HLA-B15:02.** By Genelex in United States. HLA-B Specificity 100 % Genes 4 %
*HLA-B58:01.** By Genelex in United States. HLA-B Specificity 100 % Genes 4 %
*HLA-B57:01.** By Genelex in United States. HLA-B Specificity 100 % Genes 4 %
Mental Health DNA Insight. By Pathway Genomics in United States. UGT1A4, CYP1A2, HLA-B, SLC6A4, CYP2D6, CYP2C19 Specificity 17 % Genes 4 %
Abacavir hypersensitivity. By Genomic Engenharia Molecular in Brazil. HLA-B Specificity 100 % Genes 4 %
HLA-B27. By Genomic Engenharia Molecular in Brazil. HLA-B Specificity 100 % Genes 4 %
OneOme RightMed comprehensive test. By OneOme in United States. HLA-A, NUDT15, CYP2C18, GRIK4, HTR2A, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP4F2, CYP3A4, IFNL3, CYP1A2, HLA-B, CYP2C9, SLCO1B1, VKORC1, TPMT, DRD2, SLC6A4 , (...) View the complete list with 7 more genes Panel GTR000552110 complete gene list HLA-A, NUDT15, CYP2C18, GRIK4, HTR2A, HTR2C, OPRM1, CYP2B6, CYP3A5, CYP4F2, CYP3A4, IFNL3, CYP1A2, HLA-B, CYP2C9, SLCO1B1, VKORC1, TPMT, DRD2, SLC6A4, CYP2D6, CYP2C19, DPYD, UGT1A1, COMT, F5, F2 Specificity 4 % Genes 4 %
Carbamazepine response. By Xcode Life Xcode Life in India. HLA-A, HLA-B, SCN2A Specificity 34 % Genes 4 %
Phenytoin response. By Xcode Life Xcode Life in India. HLA-B, SCN2A Specificity 50 % Genes 4 %
*HLA-B5701 genotyping.** By Molecular Genetics, Sunnybrook HSC Sunnybrook Health Sciences Centre in Canada. HLA-B Specificity 100 % Genes 4 %
CCR1. By Fulgent Genetics Fulgent Genetics in United States. CCR1 Specificity 100 % Genes 4 %
Blau Syndrome (NOD2/CARD15 Complete Gene). By Center for Genetics at Saint Francis Saint Francis Hospital in United States. NOD2 Specificity 100 % Genes 4 %
Crohn's Disease - NOD2/CARD15 Complete Gene Analysis. By Center for Genetics at Saint Francis Saint Francis Hospital in United States. NOD2 Specificity 100 % Genes 4 %
NOD2 Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NOD2 Specificity 100 % Genes 4 %
NOD2 Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. NOD2 Specificity 100 % Genes 4 %
NOD2. By Institute for Human Genetics University Clinic Freiburg in Germany. NOD2 Specificity 100 % Genes 4 %
NOD2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NOD2 Specificity 100 % Genes 4 %
NOD2. Sequencing of the exons 5, 8 and 11. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. NOD2 Specificity 100 % Genes 4 %
Sarcoidosis, early-onset (sequence analysis of NOD2 gene). By CGC Genetics in Portugal. NOD2 Specificity 100 % Genes 4 %
Blau syndrome (sequence analysis of NOD2 gene). By CGC Genetics in Portugal. NOD2 Specificity 100 % Genes 4 %
Crohn disease (sequence analysis of NOD2 gene). By CGC Genetics in Portugal. NOD2 Specificity 100 % Genes 4 %
Pediatric Granulomatous Arthritis via the NOD2 Gene. By PreventionGenetics PreventionGenetics in United States. NOD2 Specificity 100 % Genes 4 %
Nephrology Endocrinology and Electrolytes - panels. By MGZ Medical Genetics Center in Germany. UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT , (...) View the complete list with 97 more genes Panel GTR000552435 complete gene list UPK2, DACH1, DSTYK, CHD1L, CDC5L, BMP7, SIX2, TRAP1, UPK3A, AGTR1, ANLN, FGF20, ITGA8, PTPRO, EMP2, CHRM3, BICC1, ROBO2, ARHGDIA, AGT, SOX17, HPSE2, ETV5, LRIG2, SLC7A9, SEC63, WNK4, CUL3, MYO1E, CLCN5, PAX8, REN, MUC1, CRB2, FRAS1, WNT4, FREM2, GRIP1, APPL1, PRKCSH, HOGA1, SMARCAL1, ITGA3, COQ8B, BMP4, FREM1, BLK, KLF11, PAX4, GREM1, ZIC3, KLHL3, APOL1, DGKE, NOD2, CD2AP, ACE, ACTA2, CLCNKA, MYH9, GATA3, SIX1, SIX5, SALL1, OFD1, KCNJ10, PKD1, PKD2, COL4A5, SLC12A1, KCNJ1, TRPC6, CLCNKB, PLCE1, BSND, ACTN4, SLC12A3, LAMB2, COL4A4, UMOD, INF2, HNF4A, PDX1, INS, ANOS1, CASR, KCNJ11, CEL, WNK1, PKHD1, ABCC8, GRHPR, NPHS1, NPHS2, COL4A3, TSC1, TSC2, GLA, PAX2, LMX1B, SLC3A1, AGXT, COQ2, CYP24A1, COQ6, PDSS2, COQ9, GCK, OCRL, RET, HNF1B, WT1, EYA1, NEUROD1, HNF1A, ALPL, VHL Specificity 1 % Genes 4 %
Crohn Disease. By Bioscientia GmbH Center for Human Genetics in Germany. IL6, NOD2 Specificity 50 % Genes 4 %
Sarcoidosis, early-onset. By Centogene AG - the Rare Disease Company in Germany. NOD2 Specificity 100 % Genes 4 %
Blau syndrome. By Centogene AG - the Rare Disease Company in Germany. NOD2 Specificity 100 % Genes 4 %
Crohn disease. By bio.logis Center for Human Genetics Diagnosticum in Germany. NOD2 Specificity 100 % Genes 4 %
Single gene testing NOD2. By CeGaT GmbH in Germany. NOD2 Specificity 100 % Genes 4 %
Syndromes with immunodeficiency Panel. By CeGaT GmbH in Germany. SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1 , (...) View the complete list with 18 more genes Panel GTR000528901 complete gene list SP110, RPSA, FCGR3A, ZBTB24, MCM4, SPINK5, RNF168, DNMT3B, TYK2, SMARCAL1, PDGFRA, NOD2, NHP2, CFH, FGF10, ADAR, DOCK8, TERT, TERC, DKC1, NLRP3, TBX1, TREX1, RNASEH2B, RNASEH2C, RNASEH2A, SAMHD1, WAS, NBN, MRE11, ATM, FGFR2, TINF2, RUNX2, RMRP, BLM, STAT3, PMS2 Specificity 3 % Genes 4 %
Crohn Disease (NOD2). By MVZ Dortmund Dr. Eberhard & Partner in Germany. NOD2 Specificity 100 % Genes 4 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NOD2 Specificity 100 % Genes 4 %
Blau syndrome: NOD2 (CARD15) gene sequence analysis (exon 4). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NOD2 Specificity 100 % Genes 4 %
Crohn disease: NOD2 (CARD15) gene mutation analysis (p.R702W, p.G908R,1007fs). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NOD2 Specificity 100 % Genes 4 %
Crohn disease: NOD2 (CARD15) gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. NOD2 Specificity 100 % Genes 4 %
NOD2. By Fulgent Genetics Fulgent Genetics in United States. NOD2 Specificity 100 % Genes 4 %
Chronic Granulomatous Disease Panel. By Blueprint Genetics in Finland. NCF1, NOD2, NCF4, NCF2, CYBB, G6PD, CYBA Specificity 15 % Genes 4 %
Inflammatory bowel disease 1. By Bioarray in Spain. NOD2 Specificity 100 % Genes 4 %
BLAU SYNDROME. By Bioarray in Spain. NOD2 Specificity 100 % Genes 4 %
NOD2 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NOD2 Specificity 100 % Genes 4 %
CROHN´S DISEASE (SUSCEPTIBILITY). By Laboratorio de Genetica Clinica SL in Spain. NOD2 Specificity 100 % Genes 4 %
Crohn Disease, Sequencing NOD2 Gene. By Reference Laboratory Genetics in Spain. NOD2 Specificity 100 % Genes 4 %
Blau Syndrome , Sequencing NOD2 Gene. By Reference Laboratory Genetics in Spain. NOD2 Specificity 100 % Genes 4 %
Crohn Disease, Mutations (p.R702W, p.G908R, 1007fs) NOD2 Gene. By Reference Laboratory Genetics in Spain. NOD2 Specificity 100 % Genes 4 %
Crohn Disease. By Labor Dr. Wisplinghoff in Germany. NOD2 Specificity 100 % Genes 4 %
Macular Degeneration NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. CX3CR1, CST3, C2, C3, CFH, CFI, CFB, ERCC6, HMCN1, RAX2, HTRA1, EFEMP1, RLBP1, RPGR, PRPH2, CNGB3, ABCA4, ELOVL4, TLR4, FBLN5 Specificity 5 % Genes 4 %
TLR4. By Fulgent Genetics Fulgent Genetics in United States. TLR4 Specificity 100 % Genes 4 %
IL12A. By Fulgent Genetics Fulgent Genetics in United States. IL12A Specificity 100 % Genes 4 %
KLRC4. By Fulgent Genetics Fulgent Genetics in United States. KLRC4 Specificity 100 % Genes 4 %
Familial Mediterranean Fever. By Center for Human Genetics, Inc in United States. MEFV Specificity 100 % Genes 4 %
MEFV Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. MEFV Specificity 100 % Genes 4 %
MEFV Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean fever. By Molecular Genetics Rabin Medical Center in Israel. MEFV Specificity 100 % Genes 4 %
MEFV. By Institute for Human Genetics University Clinic Freiburg in Germany. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever (MEFV) Sequencing. By ARUP Laboratories, Molecular Genetics and Genomics in United States. MEFV Specificity 100 % Genes 4 %
MEFV, TNFRSF1A, MVK, NLRP3. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TNFRSF1A, MEFV, MVK, NLRP3 Specificity 50 % Genes 7 %
MEFV. Sequencing of the exons 2, 3, 5 and 10. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MEFV Specificity 100 % Genes 4 %
MEFV. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever (frequent mutation of MEFV gene). By CGC Genetics in Portugal. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever (deletion/duplication analysis of MEFV gene). By CGC Genetics in Portugal. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever (sequence analysis of MEFV gene). By CGC Genetics in Portugal. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. SAA1, TNFRSF1A, MEFV Specificity 67 % Genes 7 %
Familial mediterranean fever. By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders in Germany. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever. By Molecular Genetics, Function and Therapy Cyprus Institute of Neurology and Genetics in Cyprus. MEFV Specificity 100 % Genes 4 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CD70, IL2RA, NLRC4, TNFRSF1A, CD27, ITK, STXBP2, XIAP, STX11, UNC13D, RAB27A, SH2D1A, MEFV, LYST, BLOC1S6, MAGT1, MVK, NLRP3, BTK, WAS , (...) View the complete list with 6 more genes Panel GTR000519964 complete gene list CD70, IL2RA, NLRC4, TNFRSF1A, CD27, ITK, STXBP2, XIAP, STX11, UNC13D, RAB27A, SH2D1A, MEFV, LYST, BLOC1S6, MAGT1, MVK, NLRP3, BTK, WAS, SLC7A7, PRF1, PNP, IL2RG, ADA, AP3B1 Specificity 8 % Genes 7 %
Familial Mediterranean Fever (Renal Amyloidosis) via MEFV Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. MEFV Specificity 100 % Genes 4 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560983 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 4 %
Nephrotic syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560986 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 4 %
Nephrotic syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE , (...) View the complete list with 22 more genes Panel GTR000560987 complete gene list FN1, ARHGAP24, NUP107, NUP93, NUP205, SGPL1, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, KANK2, WDR73, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, DGKE, CD2AP, MEFV, COL4A6, MAGI2, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, PAX2, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 3 % Genes 4 %
Periodic Fever Syndromes. By Molecular Genetics Laboratory BC Children's and BC Women's Hospitals in Canada. TNFRSF1A, MEFV, MVK Specificity 67 % Genes 7 %
Familial Mediterranean Fever. By Bioscientia GmbH Center for Human Genetics in Germany. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever. By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. MEFV Specificity 100 % Genes 4 %
FMF. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. MEFV Specificity 100 % Genes 4 %
Mediterranean fever familial. By Centogene AG - the Rare Disease Company in Germany. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever. By Medical Genetics Laboratory Diagenom GmbH in Germany. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever. By bio.logis Center for Human Genetics Diagnosticum in Germany. MEFV Specificity 100 % Genes 4 %
Single gene testing MEFV. By CeGaT GmbH in Germany. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean fever. By DNAbiolab Cretan Center for Research and Development of Applications on Genetics and Molecular Biology in Greece. MEFV Specificity 100 % Genes 4 %
FMF - MEFV. By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel. MEFV Specificity 100 % Genes 4 %
Ashkenazi Jewish diseases. By Asper Biogene Asper Biogene LLC in Estonia. F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA , (...) View the complete list with 17 more genes Panel GTR000507864 complete gene list F11, MEFV, CYP21A2, LRRK2, TOR1A, TMEM216, ABCC8, MCOLN1, SERPINA1, NEB, FKTN, SMN1, LDLR, GJB2, BLM, GBA, FANCC, CFTR, ELP1, ASPA, MAK, BBS2, HEXA, LCA5, G6PC, FAM161A, DHDDS, SMPD1, DLD, PCDH15, CLRN1, BCKDHB, AGL, MSH6, MSH2, BRCA2, BRCA1 Specificity 3 % Genes 4 %
Mediterranean fever, familial. By Praxis fuer Humangenetik Wien in Austria. MEFV Specificity 100 % Genes 4 %
MEFV. By Division Human Genetics Medical University Innsbruck in Austria. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever \| Recurrent Polyserositis,Familial Mediterranean Fever Type 1 \| Familial Mediterranean Fever Type 2. By ATG-GenMed ATG-GenMed in Germany. MEFV Specificity 100 % Genes 4 %
Family Prep Screen. By Counsyl in United States. BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3 , (...) View the complete list with 90 more genes Panel GTR000552033 complete gene list BCHE, HGD, F11, MEFV, VPS13B, CYP21A2, TMEM216, DPYD, PKHD1, LAMC2, CLN5, ABCC8, TTPA, SLC17A5, SLC12A6, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, NPC1, IDUA, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, CLN3, TPP1, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, CPT1A, AGXT, PAH, CTSK, ALDH3A2, HEXA, MPI, G6PC, FAH, RS1, SLC26A4, SMPD1, OPA3, HADHA, DLD, PCDH15, CLRN1, CNGB3, GNE, CPT2, HSD17B4, SLC37A4, CHM, HBB, GAA, BCS1L, BCKDHB, ATP7B, BTD, ALPL, ALDOB, ACADVL, AGL, ACADS, ACADM, MTHFR, HFE, FMR1, F5, F2 Specificity 1 % Genes 4 %
Mediterranean fever, familial. By MedGene in Slovakia. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean fever. By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States. MEFV Specificity 100 % Genes 4 %
Invitae Familial Mediterranean Fever Test. By Invitae in United States. MEFV Specificity 100 % Genes 4 %
Mediterranean fever, Familial: MEFV gene 12 mutations analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEFV Specificity 100 % Genes 4 %
Mediterranean fever, Familial: MEFV gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEFV Specificity 100 % Genes 4 %
Mediterranean fever, Familial: MEFV gene sequence analysis (exons 2, 3, 5, 10). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEFV Specificity 100 % Genes 4 %
Fiebre mediterránea familiar: Deleciones-duplicaciones (MLPA) gen MEFV. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. MEFV Specificity 100 % Genes 4 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...) View the complete list with 6 more genes Panel GTR000512417 complete gene list IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA, HPS4, HPS6, HPS1, SLC37A4, RET, PTEN Specificity 4 % Genes 4 %
Pan-Ethnic Carrier Screen: Gene Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD , (...) View the complete list with 127 more genes Panel GTR000523283 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F9, VWF, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, HBA2, G6PD, FKTN, LAMB3, HBA1, CLN8, NBN, ATM, SMN1, RMRP, IDUA, IDS, GLA, GJB6, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, OTC, MPI, G6PC, FAH, RS1, SLC26A4, MECP2, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, CHM, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE, FMR1 Specificity 1 % Genes 4 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA , (...) View the complete list with 6 more genes Panel GTR000558821 complete gene list IL2RA, ICOS, TTC37, IL10RA, LRBA, STXBP2, XIAP, CD40LG, AICDA, NCF4, NCF2, SH2D1A, MEFV, FOXP3, MVK, BTK, WAS, DCLRE1C, CYBB, CYBA, HPS4, HPS6, HPS1, SLC37A4, RET, PTEN Specificity 4 % Genes 4 %
MEFV Gene, Full Gene Analysis. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever (MEFV). By Integrated Genetics Westborough Integrated Genetics in United States. MEFV Specificity 100 % Genes 4 %
Inheritest NGS, Comprehensive. By Integrated Genetics Westborough Integrated Genetics in United States. XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA , (...) View the complete list with 120 more genes Panel GTR000551402 complete gene list XPC, XPA, ERCC5, GSS, MEFV, NEU1, PEX12, PEX10, PEX26, FUCA1, PEX6, VPS13B, TMEM216, DPYD, PKHD1, PHGDH, LAMC2, CLN5, ABCC8, TTPA, SUMF1, SLC17A5, SLC12A6, PEX1, MPL, MCOLN1, LAMA3, GRHPR, SLC35A3, SLC26A2, SACS, PEX7, PPT1, NPHS1, NPHS2, PEX2, CTNS, NEB, MTTP, FKTN, LAMB3, COL4A3, CLN8, ADAMTS2, NBN, ATM, RMRP, NPC2, NPC1, IDUA, IDS, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, IL2RG, ARSB, AGA, ADA, CLN3, TPP1, ASL, BBS2, BBS1, BBS10, PMM2, SLC25A20, SLC22A5, ASS1, LRPPRC, GALT, GCDH, CBS, GALC, MAN2B1, MANBA, MUT, MMAA, MMAB, NDUFV1, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, NDUFS7, SURF1, COX15, CTSA, AGXT, PAH, HEXB, ALDH3A2, HEXA, PDHA1, OTC, ETHE1, AMT, GLDC, PCCA, PCCB, GAMT, G6PC, HMGCL, FAH, DHDDS, SMPD1, HADHA, NDUFAF2, FOXRED1, NDUFS4, DLD, PCDH15, CLRN1, GLB1, GNPTAB, CPT2, CPS1, HSD17B4, SLC37A4, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, HLCS, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADM, FMR1 Specificity 1 % Genes 4 %
MEFV. By Fulgent Genetics Fulgent Genetics in United States. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever Mutation Analysis. By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever Mutation Analysis (NY). By Quest Diagnostics Nichols Institute San Juan Capistrano in United States. MEFV Specificity 100 % Genes 4 %
Familial mediterranean fever. By Bioarray in Spain. MEFV Specificity 100 % Genes 4 %
CarrierMap. By Recombine in United States. VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37 , (...) View the complete list with 281 more genes Panel GTR000528277 complete gene list VPS53, SLC26A3, BCHE, HGD, GDF5, XPC, SLC7A9, LIFR, XPA, WRN, SEPSECS, MED17, ASNS, AMHR2, AMH, CYP19A1, HJV, HOGA1, TFR2, TTC37, EDA, CIITA, COL7A1, SLC39A4, ERCC8, RAG2, VSX2, EIF2AK3, LPL, EVC2, EVC, FANCG, FANCA, F8, F9, SRD5A2, MEFV, TECPR2, ERCC6, DNAI1, DNAI2, LYST, CTSC, EXOSC3, POR, RAB23, CHRNG, PEX10, LOXHD1, PEX6, PRPS1, SLC4A11, MYO15A, ATP6V1B1, VPS13A, VPS13B, MFSD8, TSEN54, SGCD, EMD, VRK1, MTM1, COL4A5, BSND, SLC12A3, COL4A4, CYP21A2, KCNJ11, LHCGR, DYSF, FKRP, NTRK1, GJB1, TMEM216, TGM1, RAPSN, PKHD1, PHGDH, LAMC2, EIF2B5, CLN5, CAPN3, ABCC8, WAS, TTPA, SUMF1, SLC17A5, SLC12A6, SGCG, RTEL1, POMGNT1, PEX1, MPL, MCOLN1, MLC1, LAMA3, GRHPR, TH, UGT1A1, SLC35A3, SLC26A2, SACS, SLC7A7, SERPINA1, SGCB, SGCA, PEX7, PPT1, DCLRE1C, NPHS1, PROP1, NPHS2, PEX2, CYBB, CTNS, NEB, HBA2, G6PD, MTTP, FKTN, LAMB3, HBA1, DOK7, COL4A3, CLN8, CLN6, CHRNE, ADAMTS2, BRIP1, NBN, ATM, SMN1, RMRP, NPC2, NPC1, LIPA, IDUA, IDS, GLA, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AR, AIRE, IL2RG, ARSB, AGA, ADA, NR2E3, CYP17A1, TPP1, ASL, BBS2, BBS1, BBS10, MKS1, BBS12, PMM2, SLC25A20, SLC22A5, CYP27A1, ASS1, SLC3A1, LRPPRC, GALK1, GALT, GCDH, ETFDH, ETFA, ETFB, GBE1, PYGM, PFKM, CYBA, CBS, SLC25A15, IVD, GALC, MLYCD, MAN2B1, DBT, MUT, MMAA, MMAB, NDUFS6, SGSH, NAGLU, HGSNAT, GNS, GALNS, GUSB, CPT1A, MPV17, TCIRG1, AGXT, PAH, PTS, ACOX1, CTSK, HEXB, ALDH3A2, HEXA, ABCD1, PDHA1, OTC, PUS1, MYO7A, ETHE1, MPI, TYMP, ALG6, LCA5, AMT, GLDC, PCCA, PCCB, CERKL, HADHB, HAX1, RARS2, RDH12, GAMT, G6PC, TAT, FAM161A, HSD3B2, HMGCL, FAH, RS1, DHDDS, HPS3, PDHB, HPS1, CDH23, SLC26A4, CYP11B2, SMPD1, GUCY2D, RLBP1, RPE65, FH, OPA3, HADHA, SLC25A13, CYP11B1, POLG, DLD, PCDH15, USH2A, TRIM32, CLRN1, CEP290, CYP1B1, ABCA4, OCRL, GNE, GLB1, GNPTAB, TRMU, CPT2, HSD17B4, ABCA12, SLC37A4, TYR, CHM, SLC45A2, STAR, TYRP1, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ATP7A, HLCS, ARG1, ALPL, USH1C, PC, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, ABCB11, MCCC2, MCCC1, HPS4, MTHFR, FMR1 Specificity 1 % Genes 4 %
Nephrotic Syndrome and Focal Segmental Glomerulosclerosis Gene Set. By Genomics and Pathology Services Washington University in St. Louis in United States. ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1 , (...) View the complete list with 13 more genes Panel GTR000522221 complete gene list ARHGAP24, ANLN, PTPRO, EMP2, ARHGDIA, MYO1E, CRB2, SMARCAL1, ITGB4, ITGA3, COQ8B, TTC21B, APOL1, CD2AP, MEFV, MYH9, SCARB2, COL4A5, TRPC6, PLCE1, ACTN4, LAMB2, COL4A4, INF2, NPHS1, NPHS2, COL4A3, LMX1B, CUBN, COQ2, COQ6, PDSS2, WT1 Specificity 4 % Genes 4 %
MEFV Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. MEFV Specificity 100 % Genes 4 %
FAMILIAL MEDITERRANEAN FEVER. By Laboratorio de Genetica Clinica SL in Spain. MEFV Specificity 100 % Genes 4 %
PERIODIC FEVER-APHTOUS STOMATITIS-PHARYNGITIS-ADENOPATHY. By Laboratorio de Genetica Clinica SL in Spain. SPAG7, MEFV, MVK, NLRP3 Specificity 25 % Genes 4 %
Familial Mediterranean Fever , Sequencing MEFV Gene. By Reference Laboratory Genetics in Spain. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean Fever , Sequencing Exons (2,3,5,10) MEFV Gene. By Reference Laboratory Genetics in Spain. MEFV Specificity 100 % Genes 4 %
Autosomal Recessive Familial Mediterranean Fever , Deletions-Duplications (MLPA) MEFV Gene. By Reference Laboratory Genetics in Spain. MEFV Specificity 100 % Genes 4 %
Autosomal Dominant Familial Mediterranean Fever , Deletions-Duplications (MLPA) MEFV Gene. By Reference Laboratory Genetics in Spain. MEFV Specificity 100 % Genes 4 %
Familial Mediterranean fever. By Labor Dr. Wisplinghoff in Germany. MEFV Specificity 100 % Genes 4 %
planTrue Extended. By True Health Diagnostics in United States. HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS , (...) View the complete list with 61 more genes Panel GTR000561192 complete gene list HGD, F11, MEFV, TNNT1, CYP21A2, KCNJ11, TMEM216, DPYD, PKHD1, CLN5, ABCC8, WAS, TTPA, SLC17A5, POMGNT1, MCOLN1, SLC26A2, PPT1, PROP1, CTNS, NEB, HBA2, FKTN, HBA1, ATM, SMN1, RMRP, NPC1, GJB2, DMD, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, AGA, TPP1, BBS1, MKS1, PMM2, SLC22A5, LRPPRC, GALT, GCDH, CBS, PAH, CYP27B1, HEXB, ALDH3A2, HEXA, ABCD1, MYO7A, G6PC, FAH, RS1, CDH23, SLC26A4, SMPD1, DLD, PCDH15, CLRN1, NPHP1, GLB1, GNPTAB, HBB, GAA, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, USH1C, ALDOB, ACADVL, AGL, ACADM, FMR1 Specificity 2 % Genes 4 %
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis. By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada. HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2 , (...) View the complete list with 116 more genes Panel GTR000560383 complete gene list HMOX1, LIPH, NLRP7, EDAR, WISP3, WRN, GP9, TTC37, GP1BB, F11, MEFV, CTSC, SLC19A2, VPS13B, CYP21A2, GHRHR, TMEM216, DPYD, PKHD1, LAMC2, CLN5, CAPN3, ABCC8, TTPA, SLC17A5, SLC12A6, SGCG, POMGNT1, PEX1, MCOLN1, MLC1, LAMA3, GRHPR, TH, SLC26A2, SACS, SERPINA1, SGCB, SGCA, PEX7, PPT1, NPHS1, PROP1, NPHS2, CTNS, NEB, FKTN, LAMB3, CLN8, NBN, ATM, SMN1, RMRP, NPC2, NPC1, IDUA, GJB6, GJB2, DHCR7, BLM, GBA, FANCC, CFTR, ELP1, ASPA, ARSA, AIRE, ARSB, AGA, CLN3, TPP1, ASL, BBS1, BBS10, PMM2, SLC22A5, ASS1, GALT, GCDH, PYGM, CBS, IVD, GALC, MAN2B1, DBT, MUT, MMAA, MMAB, SGSH, NAGLU, GALNS, GUSB, CPT1A, AGXT, PAH, CTSK, HEXB, ALDH3A2, HEXA, MPI, G6PC, FAH, SLC26A4, SMPD1, FH, OPA3, HADHA, PANK2, DLD, PCDH15, CLRN1, CNGB3, CYP1B1, GNE, GLB1, GNPTAB, CPT2, HSD17B4, SLC37A4, TYR, MMACHC, HBB, GAA, BCS1L, BCKDHB, BCKDHA, ATP7B, BTD, ALPL, ALDOB, ACAT1, ACADVL, AGL, ACADS, ACADM, HFE Specificity 1 % Genes 4 %
CECR1 sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. ADA2 Specificity 100 % Genes 4 %
CECR1. By Institute for Human Genetics University Clinic Freiburg in Germany. ADA2 Specificity 100 % Genes 4 %
Humoral dysfunction Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553465 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 4 %
Humoral dysfunction Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553468 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 4 %
Humoral dysfunction Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2 , (...) View the complete list with 4 more genes Panel GTR000553491 complete gene list IL21R, IL21, NFKB1, PRKCD, ADA2, ICOS, CR2, PIK3R1, CTLA4, NFKB2, CD27, LRBA, CXCR4, XIAP, CD40LG, AICDA, IKZF1, SH2D1A, BTK, GATA2, IKBKG, STAT3, UNG, STAT1 Specificity 5 % Genes 4 %
Polyarteritis nodosa (sequence analysis of CECR1 gene). By CGC Genetics in Portugal. ADA2 Specificity 100 % Genes 4 %
CECR1. By MGZ Medical Genetics Center in Germany. ADA2 Specificity 100 % Genes 4 %
Vascular and connective tissue diseases - panels. By MGZ Medical Genetics Center in Germany. JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469 , (...) View the complete list with 47 more genes Panel GTR000552434 complete gene list JAM3, AIMP1, CST3, COL4A2, ADAMTSL4, ADA2, MAT2A, MFAP5, PRKG1, ADAR, ADCY6, TGFB3, BMPR2, EFEMP2, SMAD9, CAV1, KCNK3, BMPR1B, ACVRL1, ZNF469, ABCC6, CHST14, TNXB, PRDM5, FKBP14, MYH11, SLC2A10, ACTA2, MYLK, SKI, TGFBR2, TGFBR1, SMAD3, NOTCH1, TGFB2, AFF2, AGTR2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, AGRN, NOTCH3, ADAMTS2, ENG, PLOD1, GLA, COL5A2, COL5A1, CBS, AIFM1, OTC, COQ8A, SLC39A13, AGK, FBN1, AFG3L2, POLG, AMACR, COL3A1, COL1A2, COL1A1, ADSL, B4GALT7, AGL, TTR Specificity 2 % Genes 4 %
Brain Malformations / Neuronal Migration Disorders. By MGZ Medical Genetics Center in Germany. NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1 , (...) View the complete list with 246 more genes Panel GTR000521067 complete gene list NXF5, HERC2, ARHGEF15, JAM3, DARS, CLP1, DIS3L2, COL4A2, POLR3B, POLR3A, ITM2B, STUB1, NOL3, SEPSECS, KCNH5, ZNF674, KIF2A, KIF5C, TUBB, TUBG1, CCND2, HEPACAM, TBC1D7, KPTN, OCLN, ADA2, TDGF1, XK, AKT1, AKT3, PIK3R2, GNAQ, DISP1, PIK3CA, EOMES, KIF7, DCAF17, CP, FTL, PGK1, ADAR, TUBB4A, C19orf12, SMARCA2, ARID1A, SMARCB1, SMARCA4, SMARCE1, MYBPC1, HNRNPDL, KDM6A, GPSM2, GLI3, RNF135, EZH2, NFIX, CDK5RAP2, GLI2, CDON, FOXH1, NODAL, CEP152, TUBB2A, EXOSC3, THOC2, CLCN4, ZMYM3, EIF2S3, KLF8, IL1RAPL1, ZNF81, ARHGEF6, NSDHL, NAA10, SOX3, SLC16A2, BRWD3, ZDHHC9, RAB40AL, RPL10, RBM10, SHROOM4, RPS6KA3, FTSJ1, GDI1, ZDHHC15, UPF3B, UBE2A, TSPAN7, DLG3, DKC1, FANCB, ZNF41, ZNF711, MAGT1, MBTPS2, AFF2, AGTR2, HCFC1, HUWE1, IGBP1, PHF8, NEU1, NLGN3, NLGN4X, ARID1B, CHD8, AP1S2, EHMT1, MED12, MID1, PTCHD1, HTRA1, VPS13A, TREX1, ZEB2, RAB39B, CUL4B, CASK, ATP6AP2, OPHN1, SYN1, KDM5C, PAK3, GRIA3, SYP, PHF6, FGD1, IQSEC2, ATRX, SMS, OFD1, KIF1BP, CNTNAP2, RNASEH2B, RNASEH2C, RNASEH2A, TCF4, SAMHD1, PNKP, SPTAN1, PLCB1, DYRK1A, NRXN1, SCN8A, WDR45, NEXMIF, EEF1A2, SETD2, ATP13A2, TUBB2B, SRPX2, STIL, ADGRG1, PAFAH1B1, FLNA, TUBA8, RELN, PQBP1, NDE1, QARS, DCX, CENPJ, ARFGEF2, COL4A1, PRRT2, DEPDC5, TBC1D24, ASAH1, SCARB2, MBD5, GRIN2A, GABRG2, GABRA1, EPM2A, CHD2, CHRNA4, CHRNA2, PNPO, KCNQ3, KCNQ2, KCNT1, HCN1, GABRD, SYNJ1, SCN2A, SCN1B, PRICKLE2, PRICKLE1, KCTD7, NHLRC1, GOSR2, LGI1, EFHC1, CHRNB2, CACNA1H, ASPM, CACNB4, FA2H, L1CAM, CASR, FGF8, SGCE, NOTCH3, SCN1A, CSTB, EIF2B3, PLA2G6, PHGDH, EIF2B5, CLN5, MLC1, PPT1, DOK7, CLN6, GPC3, CDKN1C, PTCH1, NSD1, NIPBL, TSC1, SMC1A, SMC3, SYNGAP1, RAD21, TSC2, HDAC8, WDR62, SLC2A1, PORCN, PCDH19, MEF2C, IDS, FOXG1, CHD7, CDKL5, ELP1, ARX, ASPA, FGFR3, CLN3, TPP1, CYP27A1, GALC, SGSH, HGSNAT, ALDH7A1, SLC9A6, ACSL4, MAOA, GK, GLDC, SLC25A22, TUBA1A, STXBP1, GAMT, MECP2, FH, PANK2, HPRT1, HSD17B10, TUBB3, APP, PTEN, UBE3A, FMR1 Specificity 1 % Genes 4 %
Teenager Stroke / Stroke-Like Episodes. By MGZ Medical Genetics Center in Germany. COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1 , (...) View the complete list with 1 more genes Panel GTR000521118 complete gene list COL4A2, ADA2, ABCC6, SLC2A10, TGFBR2, TGFBR1, TGFB2, CACNA1C, HTRA1, TREX1, FLNA, COL4A1, NOTCH3, GLA, CBS, OTC, FBN1, POLG, AMACR, COL3A1, TTR Specificity 5 % Genes 4 %
Polyarteritis nodosa, childhood-onset. By Centogene AG - the Rare Disease Company in Germany. ADA2 Specificity 100 % Genes 4 %
Deficiency of ADA2. By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States. ADA2 Specificity 100 % Genes 4 %
CECR1. By Fulgent Genetics Fulgent Genetics in United States. ADA2 Specificity 100 % Genes 4 %
UBAC2. By Fulgent Genetics Fulgent Genetics in United States. UBAC2 Specificity 100 % Genes 4 %
TNFRSF1A Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A Deletion/duplication analysis. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A. By Institute for Human Genetics University Clinic Freiburg in Germany. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. TNFRSF1A Specificity 100 % Genes 4 %
Familial periodic fever (sequence analysis of TNFRSF1A gene). By CGC Genetics in Portugal. TNFRSF1A Specificity 100 % Genes 4 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene). By CGC Genetics in Portugal. TNFRSF1A Specificity 100 % Genes 4 %
Familial periodic fever/TRAPS syndrome (deletion/duplication analysis on TNFRSF1A gene). By CGC Genetics in Portugal. TNFRSF1A Specificity 100 % Genes 4 %
TNF-Receptor Associated Periodic Syndrome (TRAPS) via TNFRSF1A Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics in United States. TNFRSF1A Specificity 100 % Genes 4 %
Ehlers-Danlos Syndromes Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469 , (...) View the complete list with 25 more genes Panel GTR000514879 complete gene list ATP6V1E1, AEBP1, ATP6V1A, LZTS1, ATP6AP1, FLNB, DSE, CHST3, RIN2, TNFRSF1A, GGCX, B3GALT6, C1R, C1S, GORAB, B3GAT3, SPARC, COL12A1, EFEMP2, ZNF469, CHST14, TNXB, PRDM5, FKBP14, TGFBR2, TGFBR1, SMAD3, ADAMTSL2, FLNA, ADAMTS2, PLP1, PLOD1, COL5A2, COL5A1, SLC39A13, ALDH18A1, ATP6V0A2, PYCR1, ELN, COL3A1, COL1A2, COL1A1, FBLN5, B4GALT7, ATP7A Specificity 3 % Genes 4 %
Autosomal Dominant Familial Periodic Fever. By Bioscientia GmbH Center for Human Genetics in Germany. TNFRSF1A Specificity 100 % Genes 4 %
TRAPS (TNF receptor-associated periodic syndrome). By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München in Germany. TNFRSF1A Specificity 100 % Genes 4 %
TRAPS. By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands. TNFRSF1A Specificity 100 % Genes 4 %
Periodic fever, familial autosomal dominant. By Centogene AG - the Rare Disease Company in Germany. TNFRSF1A Specificity 100 % Genes 4 %
Autosomal Dominant Familial Periodic Fever. By Medical Genetics Laboratory Diagenom GmbH in Germany. TNFRSF1A Specificity 100 % Genes 4 %
Periodic fever, familial, autosomal dominant. By bio.logis Center for Human Genetics Diagnosticum in Germany. TNFRSF1A Specificity 100 % Genes 4 %
Tumor necrosis factor receptor-associated periodic syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. TNFRSF1A Specificity 100 % Genes 4 %
Single gene testing TNFRSF1A. By CeGaT GmbH in Germany. TNFRSF1A Specificity 100 % Genes 4 %
Autosomal Dominant Familial Periodic Fever, TNFRSF1A. By GGA - Galil Genetic Analysis in Israel. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A. By ProntoLab - MLPA Lab Pronto Diagnostics Ltd. in Israel. TNFRSF1A Specificity 100 % Genes 4 %
Periodic Fever, familial, autosomal-dominant. By Praxis fuer Humangenetik Wien in Austria. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A. By Division Human Genetics Medical University Innsbruck in Austria. TNFRSF1A Specificity 100 % Genes 4 %
TRAPS. By Department of Clinical Immunology Odense University Hospital in Denmark. TNFRSF1A Specificity 100 % Genes 4 %
Periodic Fever, familial, autosomal-dominant. By MedGene in Slovakia. TNFRSF1A Specificity 100 % Genes 4 %
TNF-Receptor-Associated Periodic Syndrome. By Inflammatory Disease Section/Clinical Genetics Service National Human Genome Research Institute in United States. TNFRSF1A Specificity 100 % Genes 4 %
Periodic fever: TNFRSF1A gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TNFRSF1A Specificity 100 % Genes 4 %
Periodic fever: TNFRSF1A gene screening. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A Gene, Full Gene Analysis. By Mayo Clinic Genetic Testing Laboratories Mayo Clinic in United States. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A. By Fulgent Genetics Fulgent Genetics in United States. TNFRSF1A Specificity 100 % Genes 4 %
Familial hibernian fever. By Bioarray in Spain. TNFRSF1A Specificity 100 % Genes 4 %
TNFRSF1A Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. TNFRSF1A Specificity 100 % Genes 4 %
TNF RECEPTOR ASSOCIATED PERIODIC SYNDROME. By Laboratorio de Genetica Clinica SL in Spain. TNFRSF1A Specificity 100 % Genes 4 %
Periodic Fever (TRAPS Syndrome), Sequencing TNFRSF1A Gene. By Reference Laboratory Genetics in Spain. TNFRSF1A Specificity 100 % Genes 4 %
Periodic Fever (TRAPS Syndrome), Frequent Mutations TNFRSF1A Gene. By Reference Laboratory Genetics in Spain. TNFRSF1A Specificity 100 % Genes 4 %
TNF receptor-associated periodic fever syndrome (TRAPS). By Labor Dr. Wisplinghoff in Germany. TNFRSF1A Specificity 100 % Genes 4 %
ICAM1. By Fulgent Genetics Fulgent Genetics in United States. ICAM1 Specificity 100 % Genes 4 %

Alternate names

Behcet Syndrome Is also known as behcet disease;bd;.

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