| Panel Name, Specifity and genes Tested/covered |
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories in United States.
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513 , (...)
View the complete list with 617 more genes
BRCA1, MTHFR, UBE3A, VHL, MUTYH, TP53, MCCC1, MCCC2, AARS2, ABCB11, ABCB4, ABHD12, ACACA, ACAD9, ACADM, ACADS, AGL, ACADVL, ACAT1, ZNF513, AIPL1, YARS2, ALDOA, ALDOB, USH1G, FBP1, PC, GYS2, USH1C, UQCRQ, ARG1, ANKH, UQCRB, HLCS, TYROBP, ATP5F1E, FKBP10, ATP7A, BTD, ATP7B, ATP8B1, ATPAF2, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, BEST1, TWNK, C12orf65, GAA, ADSL, FOXL2, INVS, OPN1MW, HNF1A, HBB, OPN1LW, NEUROD1, SPATA7, MMACHC, RAX, TYRP1, FBLN5, EYA1, PPARG, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, STAR, STAT1, PRKCG, OCA2, VSX1, SLC34A1, APP, SOST, AMN, SLC45A2, WT1, PAX6, TGFB1, ZEB1, ELAC2, TLR4, CHM, RB1, PSEN1, RILP, TGFBI, PITX3, TUBB3, SDHAF2, LEMD3, HNF1B, MTR, RET, MC1R, TYR, ELN, SLC37A4, PDZD7, EYA4, RP1, OPTN, GPR143, TNFRSF11A, INPP5E, ABCA12, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, KRT5, ABCB6, TRMU, CASP8, PYCR1, CLCN7, DTNBP1, WFS1, COMT, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, OCRL, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, HPRT1, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, SHH, ME2, PRPH2, DSP, AASS, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, CYP11B1, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, CRYAB, SDHC, PANK2, HADHA, RAF1, OPA3, FH, VCP, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, SMPD1, MECP2, CYP11B2, FBN1, SLC26A4, WHRN, MTO1, CDH23, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, DDOST, HARS, C8orf37, LIAS, NDUFB3, GPD1, NDUFA9, COX14, AGK, ALDH18A1, GOT1, HPS1, DNM1L, DGUOK, BOLA3, ACSF3, GPX1, DIABLO, LDHB, PDHB, ALDH6A1, CAT, HP, BLOC1S3, HPS6, HPS5, HPS4, HPS3, ACAT2, TMEM70, HAGH, PRPF6, SERPINF1, MERTK, DHDDS, SP7, SARS2, SLC24A1, GUCA1B, PDE6A, CCDC39, RGR, CNGB1, NFU1, RS1, PHKA2, FAH, PCK2, NDUFAF1, HMGCL, CCDC28B, HSD3B2, TTC19, GNAT2, MSRB3, MTPAP, XPNPEP3, FYCO1, FAM161A, TAT, NDUFA10, NUBPL, PYGL, G6PC, CYP24A1, CNGA1, NRL, CYP11A1, SCP2, CDHR1, IDH2, KARS, SPTLC2, RP1L1, PDE6G, IMPG2, GPI, GCKR, PCARE, GRK1, LRAT, CAVIN1, TSPAN12, TRPM1, ABAT, PDE6C, GFER, PHKG2, TLR3, TMEM126A, SLC25A12, KLHL7, DPM3, PGM1, LDHA, ENO3, ADAM9, GAMT, GATM, SPR, COX4I2, RDH12, SOD2, AK1, RPL35A, PLOD3, SDHB, SLC39A13, SLC9A3R1, STXBP1, SUCLA2, COQ8A, RFT1, CYCS, MRPS22, TUBA1A, GYS1, RARS2, ACAD8, COG1, COG8, DARS2, TUSC3, P3H1, SLC25A3, HAX1, PNPLA2, CRTAP, TUFM, RD3, PRCD, TSFM, MRPS16, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, HTRA2, SEMA4A, ALDH2, REEP1, DNAJC19, POLG2, CTSD, ACADSB, TOPORS, SECISBP2, TK2, SLC25A22, IQCB1, PLOD2, MPDU1, GFM1, FLVCR1, HADHB, DPM1, PDP1, COG7, ALG9, ATIC, ALG1, RGS9, CERKL, MEF2A, AP3B1, UNG, ALG8, FSCN2, ALG2, GRN, NDUFA13, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, C1QTNF5, CISD2, TAP1, LCA5, SCO2, RIMS1, SLC35A1, GAD1, ALG6, TYMP, EYS, MPI, ETHE1, GUCA1A, SQSTM1, PHOX2A, GJA3, UCP1, UCP3, PPARGC1B, RNASEL, MYO7A, STRA6, ALG3, PITPNM3, CA4, D2HGDH, PUS1, PRPF31, AGPS, PRPF8, RP2, OTC, FRMD7, NYX, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, XDH, MMADHC, LMBRD1, ABHD5, TCN2, HEXA, GM2A, SUOX, ALDH5A1, ALDH3A2, SARDH, HEXB, LPIN1, AK2, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, CYP27B1, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, OAT, GRM6, MPV17, NME1, CTSA, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, CHAT, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, CYB5A, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, ALDH4A1, TNFRSF11B, SLC25A15, NAGS, L2HGDH, CBS, HK1, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, GLYCTK, LRPPRC, FASTKD2, COX6B1, SLC3A1, CNGA3, ASS1, CYP27A1, SIX6, SLC22A5, SLC25A20, MGAT2, PMM2, PRKN, PPP2R1B, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, SLC25A38, GLRX5, TPP1, CLN3, ALMS1, OGDH, CYP17A1, NCOA4, ANKRD26, HESX1, SLC22A4, RP9, FECH, ZFHX3, PPOX, TMEM127, SEPT9, LMX1B, RPS14, STAT3, OGG1, MYOC, TIMP3, RDH5, KIF21A, FZD4, WWOX, MEN1, COL5A1, COL5A2, SNCB, EFEMP1, GPD2, KRT12, KRT3, CPOX, PAX2, PNKD, AKAP10, PLA2G2A, PHB, TEAD1, SOD1, NEFH, GSN
Specificity
1 %
Genes
100 %
|
RPGR Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories in United States.
RPGR
Specificity
100 %
Genes
100 %
|
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2 , (...)
View the complete list with 17 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, TULP1, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, EYS, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4
Specificity
3 %
Genes
100 %
|
Macular Degeneration Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2 , (...)
View the complete list with 4 more genes
BEST1, FBLN5, ELOVL4, ABCA4, OTX2, CNGB3, PRPH2, RPGR, PROM1, GUCA1B, RP1L1, IMPG2, FSCN2, C1QTNF5, TIMP3, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, CHST6
Specificity
5 %
Genes
100 %
|
Comprehensive Pulmonary Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1 , (...)
View the complete list with 73 more genes
INVS, FBLN5, ELN, DTNBP1, RPGR, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, ALMS1, STAT3, CFTR, FOXF1, TINF2, TSC2, TSC1, PHOX2B, FLCN, SMAD4, ENG, SERPINA1, SLC7A7, RTEL1, SCNN1A, SCNN1G, SCNN1B, OFD1, EDN3, DKC1, BLOC1S6, TERC, ACVRL1, BMPR1B, DNAH8, ELMOD2, DNAH1, MCIDAS, TERT, SFTPD, TTC25, DNAJB13, GAS8, RSPH3, PARN, CENPF, CCDC151, CCNO, DOCK8, GDF2, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1
Specificity
2 %
Genes
100 %
|
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)
View the complete list with 72 more genes
ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, LCA5, EYS, CA4, PRPF31, PRPF8, RP2, HK1, CYP4V2, BBS1, BBS2, CLN3, RP9, MAK, NR2E3, PRPF3, ROM1, POMGNT1, OFD1, MVK, IFT140, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP
Specificity
2 %
Genes
100 %
|
Primary Ciliary Dyskinesia and Cystic Fibrosis Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.
INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65 , (...)
View the complete list with 22 more genes
INVS, RPGR, CCDC39, CFTR, SCNN1A, SCNN1G, SCNN1B, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
3 %
Genes
100 %
|
Ciliopathies.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.
VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1 , (...)
View the complete list with 73 more genes
VHL, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, PKD2, OFD1, WDR35, NODAL, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, GATA4, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2
Specificity
2 %
Genes
100 %
|
RPGR.
By Institute for Human Genetics University Clinic Freiburg in Germany.
RPGR
Specificity
100 %
Genes
100 %
|
PulmoGene Panel (64 Genes).
By Laboratory for Molecular Medicine Laboratory for Molecular Medicine (Partners HealthCare Personalized Medicine) in United States.
FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1 , (...)
View the complete list with 44 more genes
FBLN5, RET, ELN, DTNBP1, RPGR, FBN1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CCDC39, AP3B1, STAT3, CFTR, FOXF1, HRAS, TSC2, TSC1, PHOX2B, FLCN, ENG, SERPINA1, NF1, SCNN1A, SCNN1G, SCNN1B, EDN3, BLOC1S6, TERC, ACVRL1, ELMOD2, TERT, SFTPD, DOCK8, RSPH1, SMAD9, CSF2RA, EFEMP2, CSF2RB, DNAL1, CCDC40, MUC5B, DNAAF1, LTBP4, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NKX2-1, ABCA3, SFTPC, NME8, DNAH5, BMPR2, SFTPB, DNAI1, SFTPA2, SFTPA1, BDNF, ASCL1, GDNF
Specificity
2 %
Genes
100 %
|
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication, 53 Genes.
By ARUP Laboratories, Molecular Genetics and Genomics in United States.
AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D , (...)
View the complete list with 33 more genes
AIPL1, BEST1, SPATA7, RP1, ABCA4, CEP290, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, CNGA1, NRL, CDHR1, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, CERKL, FSCN2, LCA5, EYS, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1
Specificity
2 %
Genes
100 %
|
PCDNext.
By Ambry Genetics in United States.
RPGR, CCDC39, CFTR, OFD1, SPAG1, ARMC4, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5 , (...)
View the complete list with 1 more genes
RPGR, CCDC39, CFTR, OFD1, SPAG1, ARMC4, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
5 %
Genes
100 %
|
RPGR mutation analysis.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR. Sequencing of the exon ORF15.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR. Sequencing of the exons 1-15.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
Primary Ciliary Dyskinesia Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...)
View the complete list with 17 more genes
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN
Specificity
3 %
Genes
100 %
|
Primary Ciliary Dyskinesia Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...)
View the complete list with 17 more genes
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN
Specificity
3 %
Genes
100 %
|
Comprehensive Pulmonary-Vascular Seq Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)
View the complete list with 45 more genes
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN
Specificity
2 %
Genes
100 %
|
Comprehensive Pulmonary-Vascular Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)
View the complete list with 44 more genes
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN
Specificity
2 %
Genes
100 %
|
Primary Ciliary Dyskinesia Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114 , (...)
View the complete list with 17 more genes
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, DNAH6, HYDIN
Specificity
3 %
Genes
100 %
|
Comprehensive Pulmonary-Vascular Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1 , (...)
View the complete list with 44 more genes
INVS, JAG1, RPGR, CCDC39, CFTR, FOXF1, SMAD4, GATA2, ENG, SLC7A7, FLNA, OFD1, RASA1, DKC1, MARS, TERC, ACVRL1, BMPR1B, DNAH8, DNAH1, MCIDAS, TERT, GAS8, RSPH3, CCDC151, CCNO, GDF2, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, KCNK3, CAV1, SMAD9, DRC1, CSF2RA, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, CSF2RB, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, KCNA5, DNAH11, NKX2-1, ABCA3, NME8, DNAH5, BMPR2, SFTPB, DNAI1, NOTCH2, EIF2AK4, COPA, DNAH6, HYDIN
Specificity
2 %
Genes
100 %
|
Cone-rod dystrophy, X-linked (sequence analysis of exon 15a of RPGR gene).
By CGC Genetics in Portugal.
RPGR
Specificity
100 %
Genes
100 %
|
Cone-rod dystrophy (NGS panel of 36 genes).
By CGC Genetics in Portugal.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)
View the complete list with 16 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, RGS9BP, PCYT1A
Specificity
3 %
Genes
100 %
|
Stargardt disease and macular distrophy (NGS panel for 14 genes).
By CGC Genetics in Portugal.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, IMPG1, CDH3
Specificity
8 %
Genes
100 %
|
Retinitis pigmentosa 3 (sequence analysis of RPGR gene).
By CGC Genetics in Portugal.
RPGR
Specificity
100 %
Genes
100 %
|
Retinitis pigmentosa (NGS panel for 72 genes).
By CGC Genetics in Portugal.
ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)
View the complete list with 52 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, CYP4V2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GNPTG, DHX38, RBP4, PRPF4, NEK2, ARL2BP, ADGRA3, KIAA1549, ECM1, TUB, RDH11
Specificity
2 %
Genes
100 %
|
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).
By CGC Genetics in Portugal.
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)
View the complete list with 33 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, CYP4V2, BBS1, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, NEK2, ARL2BP, ADGRA3, KIAA1549, TUB, RDH11
Specificity
2 %
Genes
100 %
|
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).
By CGC Genetics in Portugal.
BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)
View the complete list with 7 more genes
BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1, PRPF4
Specificity
4 %
Genes
100 %
|
X-linked Retinitis Pigmentosa (XLRP) via the RPGR (includes ORF15) Gene.
By PreventionGenetics PreventionGenetics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
CHM, RPGR, RP2, OFD1
Specificity
25 %
Genes
100 %
|
Primary Ciliary Dyskinesia (PCD) via the RPGR Gene.
By PreventionGenetics PreventionGenetics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1 , (...)
View the complete list with 60 more genes
ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, CACNA1F, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, RD3, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, LCA5, EYS, PITPNM3, CA4, PRPF31, PRPF8, RP2, CLN3, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, EMC1, SLC7A14, ARL2BP, ADGRA3, KIAA1549, PLA2G5
Specificity
2 %
Genes
100 %
|
Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1 , (...)
View the complete list with 2 more genes
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, RLBP1, PROM1, CRB1, GUCA1B, RS1, RP1L1, IMPG2, RDH12, CERKL, FSCN2, C1QTNF5, TIMP3, EFEMP1, RBP3, CDH3
Specificity
5 %
Genes
100 %
|
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)
View the complete list with 15 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, DRAM2, RGS9BP
Specificity
3 %
Genes
100 %
|
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome and Cystic Fibrosis Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4 , (...)
View the complete list with 20 more genes
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, AK7, PIH1D3
Specificity
3 %
Genes
100 %
|
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)
View the complete list with 285 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, AHI1, PNPLA6, ISPD, LARGE1, HCN1, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, WDR35, MVK, ABCC6, GNPTG, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, IFT43, CEP41, CPLANE1, IFT80, ARL13B, B9D2, VSX2, SLC25A46, TCTN3, IFT172, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, CEP83, LRP2, PLK4, TUBGCP4, TUBGCP6, COL18A1, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, RCBTB1, KIAA1549, CEP78, PEX11B, VCAN, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, IFT88, PRDM13, IFT81, MIR204, NXNL1, REEP6, SLC4A7, CEP250, CFAP57, OR2W3, ACBD5
Specificity
1 %
Genes
100 %
|
Ciliopathy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9 , (...)
View the complete list with 73 more genes
INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TMEM216, AHI1, OFD1, DCDC2, TMEM231, NODAL, FOXH1, DNAH8, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, GDF1, CEP41, CPLANE1, GLIS2, ARL13B, LEFTY2, ACVR2B, B9D2, CFAP53, TCTN3, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6
Specificity
2 %
Genes
100 %
|
Primary Ciliary Dyskinesia (PCD)/Immotile Cilia Syndrome Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
INVS, RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10 , (...)
View the complete list with 19 more genes
INVS, RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, TTC25, DNAJB13, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, AK7, PIH1D3
Specificity
3 %
Genes
100 %
|
Specialized Testing of the Mutational Hotspot RPGR (isoform C) ORF15 Region.
By PreventionGenetics PreventionGenetics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
Retinitis pigmentosa type 3 X-linked.
By Centogene AG - the Rare Disease Company in Germany.
RPGR
Specificity
100 %
Genes
100 %
|
X-linked retinitis pigmentosa.
By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust in United Kingdom.
RPGR
Specificity
100 %
Genes
100 %
|
Primary Ciliary Dyskinesia Panel.
By CeGaT GmbH in Germany.
RPGR, CCDC39, OFD1, DNAH8, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5 , (...)
View the complete list with 14 more genes
RPGR, CCDC39, OFD1, DNAH8, GAS8, RSPH3, CENPF, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, HYDIN
Specificity
3 %
Genes
100 %
|
Retinitis pigmentosa, autosomal dominant and X-linked Panel.
By CeGaT GmbH in Germany.
BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31 , (...)
View the complete list with 10 more genes
BEST1, RP1, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, HK1, RP9, NR2E3, PRPF3, ROM1, SPP2, ARL3, PRPF4
Specificity
4 %
Genes
100 %
|
Retinitis pigmentosa, autosomal recessive and X-linked Panel.
By CeGaT GmbH in Germany.
ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...)
View the complete list with 42 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, PRPF31, RP2, HGSNAT, CYP4V2, BBS1, BBS2, MAK, NR2E3, RBP3, NMNAT1, GNPTG, DHX38, RBP4, EMC1, ZNF408, KIZ, SLC7A14, NEK2, ARL2BP, IFT172, ADGRA3, KIAA1549, TUB, RDH11
Specificity
2 %
Genes
100 %
|
Cone Rod Dystrophies Panel.
By CeGaT GmbH in Germany.
AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)
View the complete list with 20 more genes
AIPL1, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, GNAT2, CDHR1, PCARE, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, CYP4V2, RDH5, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, RGS9BP, PCYT1A, ACBD5
Specificity
3 %
Genes
100 %
|
Stargardt Disease and Macular Dystrophies Panel.
By CeGaT GmbH in Germany.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2 , (...)
View the complete list with 2 more genes
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, CRX, CRB1, RP1L1, IMPG2, RDH12, FSCN2, C1QTNF5, CLN3, TIMP3, MFSD8, TTLL5, CTNNA1, DRAM2, IMPG1, CDH3
Specificity
5 %
Genes
100 %
|
Single gene testing RPGR.
By CeGaT GmbH in Germany.
RPGR
Specificity
100 %
Genes
100 %
|
Autosomal Recessive Retinitis Pigmentosa.
By Asper Biogene Asper Biogene LLC in Estonia.
ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)
View the complete list with 36 more genes
ZNF513, AIPL1, BEST1, RP1, ABCA4, CNGB3, ARL6, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, GRK1, LRAT, RDH12, PRCD, SEMA4A, TOPORS, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, CNGA3, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1
Specificity
2 %
Genes
100 %
|
X-Linked Retinitis Pigmentosa (includes RPGR ORF15).
By Asper Biogene Asper Biogene LLC in Estonia.
RPGR, RP2, OFD1
Specificity
34 %
Genes
100 %
|
Cone-Rod Dystrophy.
By Asper Biogene Asper Biogene LLC in Estonia.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A , (...)
View the complete list with 10 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAB28, RAX2, PDE6H, CNNM4
Specificity
4 %
Genes
100 %
|
Eye diseases comprehensive panel.
By Asper Biogene Asper Biogene LLC in Estonia.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)
View the complete list with 255 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, ABCB6, WFS1, CC2D2A, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, NHS, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, CRYAB, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, AGK, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FYCO1, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, GFER, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, GJA3, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, GALT, GALK1, CNGA3, SIX6, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, KRT12, KRT3, PAX2, TEAD1, GSN, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, COL4A1, MFSD8, OFD1, TREX1, VPS13B, CIB2, COL9A1, GIPC3, COL9A2, COL11A1, COL11A2, SLC4A11, MVK, NAA10, PRDM5, ABCC6, ZNF469, GNPTG, UNC119, RAB28, RAX2, PDE6H, CNNM4, GPR179, GDF6, IFT140, CDH3, CHST6, RBP4, WDR19, LZTFL1, WDPCP, SDCCAG8, C19orf12, KIF11, CTDP1, CFH, GJA1, FTL, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, ARL13B, VAX1, FREM1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, B3GLCT, GRIP1, FREM2, FRAS1, LAMA1, ITM2B, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, PLA2G5, RGS9BP, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, HSF4, CRYGS, SMOC1, ADAMTS18, HMX1, JAM3, YAP1, ZNF644
Specificity
1 %
Genes
100 %
|
Retinal Dystrophy Panel.
By Molecular Vision Laboratory in United States.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)
View the complete list with 267 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, ABCD1, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, ALMS1, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, AHI1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, ABCC6, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, ARL3, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, MT-ND4L, MT-TH, MT-TV, B9D2, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, ADAMTS18, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, ACBD5, RHEX, DGKQ, CKAP4
Specificity
1 %
Genes
100 %
|
Cone Rod Dystrophy panel.
By Molecular Vision Laboratory in United States.
AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1 , (...)
View the complete list with 13 more genes
AIPL1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, KCNV2, SEMA4A, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4
Specificity
4 %
Genes
100 %
|
X-Linked RP Panel.
By Molecular Vision Laboratory in United States.
CHM, RPGR, RS1, RP2, OFD1
Specificity
20 %
Genes
100 %
|
MVL Vision Panel.
By Molecular Vision Laboratory in United States.
ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)
View the complete list with 248 more genes
ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, GRK1, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, TPP1, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, GJB2, GJB6, CLN6, CLN8, MTTP, PEX2, PPT1, PEX7, PEX1, TTPA, CLN5, TMEM216, MT-TL1, MT-ND1, MT-ND6, MT-ND4, PNPLA6, KCTD7, HCN1, CTSF, DNAJC5, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, PRPS1, PEX6, TMEM231, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, UNC119, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, LRIT3, GPR179, DTHD1, GDF6, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, HMCN1, DHX38, SPP2, RBP4, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, KIF11, PGK1, MT-ND5, CFH, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, MT-ND4L, MT-TH, MT-TV, SLC25A46, TCTN3, IFT172, PDE6D, CSPP1, CEP164, ZNF423, PLK4, TUBGCP4, TUBGCP6, LAMA1, RTN4IP1, ITM2B, TRNT1, ADGRA3, KIAA1549, PEX11B, VCAN, PLA2G5, RGS9BP, TUB, RDH11, HMX1, IFT81, MIR204, SLC4A7, CEP250, OR2W3, RHEX, DGKQ, CKAP4
Specificity
1 %
Genes
100 %
|
VECMD.
By VECMD VECMD in Mexico.
RPGR
Specificity
100 %
Genes
100 %
|
Retinitis pigmentosa 3.
By Praxis fuer Humangenetik Wien in Austria.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR.
By Division Human Genetics Medical University Innsbruck in Austria.
RPGR
Specificity
100 %
Genes
100 %
|
qCarrier Plus.
By Quantitative Genomic Medicine Laboratories, SL in Spain.
F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)
View the complete list with 280 more genes
F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, RAX, TYRP1, SLC45A2, TYR, GPR143, MTRR, CPS1, CPT2, GNPTAB, GLB1, OCRL, ABCA4, NDP, CNGB3, TMEM67, NPHP1, CEP290, CLRN1, USH2A, PCDH15, DLD, SLC25A13, PANK2, HADHA, FH, TULP1, RPGR, RPE65, GUCY2D, CRB1, MECP2, SLC26A4, WHRN, CDH23, IDH3B, ACSF3, PDHB, DHDDS, PDE6A, CNGB1, RS1, FAH, HMGCL, TAT, G6PC, CNGA1, RDH12, SUCLA2, P3H1, HAX1, TUFM, TSFM, CTSD, ACADSB, CERKL, SPG7, PCCB, GLDC, AMT, EYS, ETHE1, MYO7A, AGPS, RP2, OTC, ACSL4, ABCD1, MMADHC, LMBRD1, HEXA, HEXB, ACOX1, PTS, PAH, AGXT, SURF1, CPT1A, GALNS, GNS, HGSNAT, NAGLU, SGSH, MCEE, MMAB, MUT, DBT, MAN2B1, MLYCD, SUCLG1, GALC, IVD, ALDH4A1, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, FXN, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, CYP17A1, SLC6A8, NR2E3, ABCD4, ADA, AGA, AHCY, ARSB, GNMT, IL2RG, AIRE, AR, ARSA, ASPA, ARX, CFTR, FANCC, GBA, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LDLR, LIPA, NPC1, NPC2, PLOD1, PLP1, POU3F4, RMRP, SMN1, ATM, NBN, CLN6, CLN8, HBA1, LAMB3, FKTN, G6PD, NEB, CTNS, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, UGT1A1, TH, GRHPR, MCOLN1, MPL, PEX1, TTPA, CAPN3, CLN5, LAMC2, PKHD1, TMEM216, NDRG1, SH3TC2, MTMR2, GDAP1, ZFYVE26, SPG11, AHI1, CLCN1, FKRP, DYSF, KCNJ11, GNRHR, CYP21A2, COL4A4, BSND, L1CAM, SPART, TNNT1, POMT2, POMT1, DCX, PQBP1, MFSD8, ATRX, IQSEC2, FGD1, GRIA3, PAK3, KDM5C, SYN1, OPHN1, CASK, CUL4B, OTOF, POLR1C, STRC, SLC4A11, TMPRSS3, PRPS1, TMC1, GJB3, PEX6, TMIE, TRIOBP, TPRN, AP1S2, NLGN4X, PEX10, MVK, PHF8, HUWE1, AFF2, UPF3B, USP9X, GDI1, FTSJ1, RPS6KA3, BRWD3, SLC16A2, IL1RAPL1, THOC2, TRDN, CASQ2, CHST6, DNAH5, PGK1, F11, THRB, JAK3, F9, F8, FANCA, ARL13B, EVC2, SLC46A1, PCBD1, LDLRAP1, CD40LG, SLC39A4, COL7A1, TFR2, HOGA1, HJV, PAX8, DUOXA2, DUOX2, SLC5A5, TPO, SLC6A19, WNT10A, HGD, HAL, CTH, ADK, FTCD, MPP3
Specificity
1 %
Genes
100 %
|
Retinitis pigmentosa 3.
By MedGene in Slovakia.
RPGR
Specificity
100 %
Genes
100 %
|
Invitae Congenital Heart Defects and Heterotaxy Panel.
By Invitae in United States.
INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11 , (...)
View the complete list with 62 more genes
INVS, ELN, JAG1, NPHP3, CEP290, TTC8, RAF1, RPGR, CCDC39, BCOR, MKS1, BBS10, ALMS1, BRAF, CHD7, HRAS, KRAS, MAP2K1, NRAS, PTPN11, SHOC2, SOS1, RIT1, MAP2K2, CBL, NSD1, GPC3, NF1, OFD1, TBX1, NODAL, FOXH1, NOTCH1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, ACTC1, NKX2-5, TBX5, GJA1, ZIC3, NEK8, GDF1, GATA4, LEFTY2, ACVR2B, CFAP53, NOTCH2, ZNF423, ANKS6, MED13L, NR2F2, NKX2-6, MEIS2
Specificity
2 %
Genes
100 %
|
Invitae Primary Ciliary Dyskinesia Panel.
By Invitae in United States.
RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6 , (...)
View the complete list with 14 more genes
RPGR, CCDC39, OFD1, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1
Specificity
3 %
Genes
100 %
|
Invitae Ciliopathies Panel.
By Invitae in United States.
INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1 , (...)
View the complete list with 82 more genes
INVS, INPP5E, CC2D2A, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, RPGR, CCDC39, XPNPEP3, IQCB1, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, MRE11, PKHD1, TMEM216, AHI1, PKD2, OFD1, DCDC2, TMEM231, KIAA0586, WDR35, IFT140, DNAH8, DNAH1, MCIDAS, GAS8, RSPH3, CCDC151, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, WDR19, WDPCP, SDCCAG8, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, IFT122, B9D2, TCTN3, IFT172, CEP104, CEP120, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, NEK1, WDR60, WDR34
Specificity
1 %
Genes
100 %
|
Cone-Rod dystrophy type 1: RPGR gene sequence analysis (exons 1-15 and ORF15).
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
RETINITIS PIGMENTOSA A.R..
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)
View the complete list with 21 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, BBS1, MAK, NR2E3, RBP3, GNPTG
Specificity
3 %
Genes
100 %
|
STARGARDT SYNDROME.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, PROM1, RP1L1, RDH12, FSCN2, C1QTNF5, TIMP3, CDH3
Specificity
8 %
Genes
100 %
|
RETINITIS PIGMENTOSA A.D.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)
View the complete list with 7 more genes
BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1
Specificity
4 %
Genes
100 %
|
RETINITIS PIGMENTOSA.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)
View the complete list with 37 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, GNPTG
Specificity
2 %
Genes
100 %
|
Cone rod dystrophy.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)
View the complete list with 10 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RGS9BP
Specificity
4 %
Genes
100 %
|
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Full Gene Sequencing.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
RPGR-Related X-Linked Retinitis Pigmentosa: RPGR Gene Deletion/Duplication.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)
View the complete list with 16 more genes
AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RBP4, RGS9BP
Specificity
3 %
Genes
100 %
|
Eye Disorders: Comprehensive Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)
View the complete list with 190 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP27A1, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, ATP13A2, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, SLC24A5, LRMDA, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1
Specificity
1 %
Genes
100 %
|
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCA1B, RDH12, FSCN2, TIMP3, EFEMP1, CDH3, RBP4
Specificity
7 %
Genes
100 %
|
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)
View the complete list with 44 more genes
ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, C1QTNF5, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, CLN3, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, RBP4
Specificity
2 %
Genes
100 %
|
Ciliopathies: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)
View the complete list with 92 more genes
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, SCNN1A, SCNN1G, SCNN1B, PKD2, OFD1, TMEM231, WDR35, NODAL, FOXH1, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, GDF1, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, LEFTY2, CRELD1, ACVR2B, B9D2, CEP164, ZNF423, DYNC2H1, NEK1, HYLS1
Specificity
1 %
Genes
100 %
|
Retina/Photoreceptor Dystrophy: Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)
View the complete list with 100 more genes
ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8, USH2A, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, TIMM8A, OAT, GRM6, CNGA3, CYP4V2, CLN3, RP9, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, OFD1, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, RBP4, CDH15, VCAN, PLA2G5, RGS9BP, C8orf37-AS1
Specificity
1 %
Genes
100 %
|
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)
View the complete list with 16 more genes
AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RBP4, RGS9BP
Specificity
3 %
Genes
100 %
|
Ciliopathies: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)
View the complete list with 76 more genes
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CFTR, TSC2, TSC1, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, FOXH1, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1
Specificity
2 %
Genes
100 %
|
Eye Disorders: Deletion/Duplication Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)
View the complete list with 187 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1, GPR143, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, GUCA1B, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, CTSD, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, FSCN2, GRN, C1QTNF5, LCA5, RIMS1, EYS, GUCA1A, MYO7A, STRA6, PITPNM3, CA4, PRPF31, PRPF8, RP2, NYX, HCCS, TIMM8A, BCOR, PHYH, OAT, GRM6, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, TPP1, CLN3, ALMS1, RP9, MYOC, TIMP3, RDH5, FZD4, EFEMP1, MAK, NR2E3, PRPF3, RBP3, ROM1, CLN6, CLN8, MTTP, PPT1, PEX7, CLN5, TMEM216, AHI1, KCTD7, COL4A1, MFSD8, OFD1, CIB2, COL9A1, COL9A2, COL11A1, COL11A2, UNC119, RAX2, PDE6H, CNNM4, LRIT3, GPR179, CDH3, FOXE3, RBP4, LZTFL1, WDPCP, SDCCAG8, TTC21B, TMEM237, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, VAX1, FREM1, VSX2, BMP4, B3GLCT, TCTN3, ZNF423, GRIP1, FREM2, FRAS1, VCAN, PLA2G5, RGS9BP, SMOC1
Specificity
1 %
Genes
100 %
|
Ciliopathies NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)
View the complete list with 75 more genes
VHL, AIPL1, USH1G, USH1C, INVS, SPATA7, CC2D2A, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, TULP1, RPGRIP1, RPGR, RPE65, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, CCDC39, CCDC28B, XPNPEP3, PCARE, LRAT, RDH12, RD3, TOPORS, IQCB1, LCA5, MYO7A, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, CFTR, PKHD1, TMEM216, AHI1, ATXN10, UMOD, PKD2, OFD1, WDR35, NODAL, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, NKX2-5, WDR19, WDPCP, SDCCAG8, B9D1, ZIC3, TTC21B, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, IFT80, GLIS2, ARL13B, EVC, EVC2, B9D2, DYNC2H1, NEK1, HYLS1
Specificity
2 %
Genes
100 %
|
Eye Disorders NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)
View the complete list with 118 more genes
ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CYP1B1, CNGB3, KCNJ13, NPHP3, NPHP1, MKKS, CEP290, TRIM32, NPHP4, PCDH15, PRPH2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, MERTK, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, RGS9, CERKL, FSCN2, LCA5, RIMS1, EYS, GUCA1A, PITPNM3, CA4, PRPF31, PRPF8, RP2, TIMM8A, BCOR, PHYH, OAT, GRM6, CYP4V2, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, SOX2, CLN3, RP9, MYOC, TIMP3, EFEMP1, PAX2, NR2E3, PRPF3, RBP3, ROM1, MTTP, PEX2, PEX7, PEX1, TTPA, AHI1, TREX1, COL9A1, COL11A1, UNC119, RAX2, CNNM4, CDH3, HMCN1, RBP4, RPGRIP1L, VSX2, VCAN, RGS9BP
Specificity
1 %
Genes
100 %
|
Macular Degeneration NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
FBLN5, TLR4, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, EFEMP1, HTRA1, RAX2, HMCN1, ERCC6, CFB, CFI, CFH, C3, C2, CST3, CX3CR1
Specificity
5 %
Genes
100 %
|
Retinitis Pigmentosa NGS Panel.
By Fulgent Genetics Fulgent Genetics in United States.
ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4 , (...)
View the complete list with 68 more genes
ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, RP1, WFS1, ABCA4, CACNA1F, ARL6, NPHP3, NPHP1, MKKS, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, IQCB1, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, PHYH, BBS7, BBS5, BBS12, BBS9, BBS10, BBS4, BBS1, BBS2, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, PEX2, PEX7, PEX1, PEX26, GNPTG, RPGRIP1L
Specificity
2 %
Genes
100 %
|
RPGR.
By Fulgent Genetics Fulgent Genetics in United States.
RPGR
Specificity
100 %
Genes
100 %
|
X-chromosome High Resolution microarray analysis.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center in United States.
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK , (...)
View the complete list with 140 more genes
ATP7A, OPN1MW, CHM, GPR143, HSD17B10, OCRL, CACNA1F, NDP, HPRT1, NHS, ALAS2, RPGR, MECP2, RS1, PHKA2, RP2, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, PHKA1, ACSL4, AMER1, SLC9A6, BCOR, ABCD1, TMLHE, SLC6A8, IL2RG, AR, ARX, CDKL5, DMD, GLA, IDS, IKBKG, PCDH19, PLP1, PORCN, POU3F4, SRY, HDAC8, G6PD, CYBB, WAS, BTK, GJB1, UBA1, NR0B1, SHOX, ANOS1, AVPR2, COL4A5, L1CAM, FHL1, UBQLN2, MTM1, EMD, SLC35A2, ALG13, DCX, PQBP1, FLNA, SRPX2, WDR45, PIGA, OFD1, SMS, ATRX, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, RAB39B, PRPS1, SMPX, MID1, MED12, AP1S2, NLGN4X, NLGN3, GATA1, PHF8, IGBP1, HCFC1, AGTR2, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, ZNF41, FANCB, DKC1, DLG3, EBP, TSPAN7, UBE2A, UPF3B, ZC4H2, ZDHHC15, GDI1, FTSJ1, RPS6KA3, SHROOM4, RBM10, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, KDM6A, CSF2RA, PGK1, SH2D1A, EFNB1, F9, F8, ZIC3, XIAP, XK, EDA, CCNQ, ARSE, MAMLD1, ZNF674, IGSF1, CLCN5, ATP2B3, STS, POLA1, CFP, AMELX, TRAPPC2, VMA21, CHRDL1, COX7B, TBX22, SLC6A14, SAT1, SERPINA7
Specificity
1 %
Genes
100 %
|
Primary Ciliary Dyskinesia Panel.
By Blueprint Genetics in Finland.
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH1, GAS8, RSPH3, CENPF, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6 , (...)
View the complete list with 16 more genes
INVS, RPGR, CCDC39, CFTR, OFD1, DNAH1, GAS8, RSPH3, CENPF, CCNO, SPAG1, CCDC65, CFAP298, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9, RSPH4A, DNAAF2, DNAI2, DNAH11, NME8, DNAH5, DNAI1, HYDIN, PIH1D3
Specificity
3 %
Genes
100 %
|
Retinal Dystrophy Panel.
By Blueprint Genetics in Finland.
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)
View the complete list with 240 more genes
ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4, ABCA4, JAG1, CACNA1F, MFRP, NDP, OTX2, CNGB3, TMEM67, KCNJ13, ARL6, NPHP3, NPHP1, MKKS, ADGRV1, CEP290, CLRN1, TTC8, TRIM32, USH2A, NPHP4, PCDH15, PRPH2, MFN2, PANK2, OPA3, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, WHRN, CDH23, ACO2, IDH3B, HARS, C8orf37, PRPF6, MERTK, DHDDS, SLC24A1, PDE6A, RGR, CNGB1, RS1, GNAT2, FAM161A, CNGA1, NRL, CDHR1, RP1L1, PDE6G, IMPG2, PCARE, LRAT, TSPAN12, TRPM1, PDE6C, TMEM126A, KLHL7, ADAM9, RDH12, RD3, PRCD, CACNA2D4, GNAT1, CABP4, SNRNP200, KCNV2, SEMA4A, TOPORS, IQCB1, FLVCR1, RGS9, CERKL, C1QTNF5, CISD2, LCA5, RIMS1, EYS, GUCA1A, MYO7A, PITPNM3, CA4, PRPF31, PRPF8, RP2, FRMD7, NYX, TIMM8A, PHYH, OAT, GRM6, HGSNAT, HK1, CNGA3, CYP4V2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, CLN3, ALMS1, TIMP3, RDH5, FZD4, EFEMP1, PAX2, TEAD1, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, MTTP, PEX2, PEX7, PEX1, TTPA, TMEM216, AHI1, PNPLA6, MFSD8, NR2F1, OFD1, TREX1, VPS13B, CIB2, COL9A1, COL9A3, COL9A2, COL11A1, PRPS1, PEX6, TMEM231, CTNNB1, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, MVK, GNPTG, CFAP410, ATF6, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, GNB3, LRIT3, GPR179, DTHD1, IFT140, CTNNA1, DRAM2, IMPG1, CDH3, DHX38, SPP2, RBP4, AGBL5, EMC1, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, LZTFL1, BBIP1, WDPCP, SDCCAG8, KIF11, CTC1, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, B9D2, SLC25A46, TCTN3, IFT172, CEP104, TMEM107, PDE6D, CSPP1, CEP164, ZNF423, LRP2, COL18A1, RTN4IP1, CWC27, ARHGEF18, SAMD11, CEP78, PEX11B, VCAN, ATOH7, PLA2G5, RGS9BP, PCYT1A, TUB, RDH11, ADAMTS18, HMX1, CAPN5, PRDM13, IFT81, REEP6, ARMC9
Specificity
1 %
Genes
100 %
|
Macular Dystrophy Panel.
By Blueprint Genetics in Finland.
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8 , (...)
View the complete list with 6 more genes
BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGR, RLBP1, PROM1, CRX, CRB1, RS1, RP1L1, IMPG2, RDH12, CERKL, C1QTNF5, TIMP3, RDH5, EFEMP1, MFSD8, RAX2, CTNNA1, DRAM2, IMPG1, CDH3, PRDM13
Specificity
4 %
Genes
100 %
|
Cone Rod Dystrophy Panel.
By Blueprint Genetics in Finland.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4 , (...)
View the complete list with 22 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, CRB1, C8orf37, MERTK, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, CNGA3, CYP4V2, CLN3, RDH5, CFAP410, POC1B, TTLL5, RAB28, RAX2, PDE6H, CNNM4, ARHGEF18, CEP78, RGS9BP, ADAMTS18
Specificity
3 %
Genes
100 %
|
Retinitis Pigmentosa Panel.
By Blueprint Genetics in Finland.
ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)
View the complete list with 90 more genes
ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, GUCY2D, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, PDE6A, RGR, CNGB1, RS1, FAM161A, CNGA1, NRL, CDHR1, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, C1QTNF5, LCA5, RIMS1, EYS, PITPNM3, CA4, PRPF31, PRPF8, RP2, PHYH, OAT, HGSNAT, HK1, CYP4V2, BBS1, BBS2, CLN3, RDH5, MAK, NR2E3, PRPF3, RBP3, ROM1, NMNAT1, PEX2, PEX7, PEX1, TTPA, AHI1, OFD1, VPS13B, MVK, GNPTG, CFAP410, IFT140, CTNNA1, DHX38, SPP2, RBP4, AGBL5, ZNF408, WDR19, PRPF4, KIZ, SLC7A14, NEK2, ARL2BP, ADIPOR1, CWC27, ARHGEF18, SAMD11, PLA2G5, TUB, REEP6
Specificity
1 %
Genes
100 %
|
X-linked Retinitis pigmentosa.
By Bioarray in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
RETINITIS PIGMENTOSA (X-LINKED).
By Laboratorio de Genetica Clinica SL in Spain.
RPGR, RP2
Specificity
50 %
Genes
100 %
|
Cone Rod Distrophy Type 1 , Sequencing RPGR Gene.
By Reference Laboratory Genetics in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
Retinitis Pigmentosa, Sequencing RPGR Gene.
By Reference Laboratory Genetics in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
Cone-Rod Dystrophy Type 1, Sequencing Exons (1-19) and ORF15 RPGR Gene.
By Reference Laboratory Genetics in Spain.
RPGR
Specificity
100 %
Genes
100 %
|
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes.
By Reference Laboratory Genetics in Spain.
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)
View the complete list with 21 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, RDH12, PRCD, FLVCR1, CERKL, EYS, RP2, BBS1, MAK, NR2E3, RBP3, GNPTG
Specificity
3 %
Genes
100 %
|
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes.
By Reference Laboratory Genetics in Spain.
BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4 , (...)
View the complete list with 7 more genes
BEST1, RP1, ABCA4, PRPH2, RPGR, RPE65, RHO, IMPDH1, CRX, PRPF6, GUCA1B, RGR, NRL, KLHL7, RDH12, SNRNP200, SEMA4A, TOPORS, FSCN2, CA4, PRPF31, PRPF8, RP2, RP9, NR2E3, PRPF3, ROM1
Specificity
4 %
Genes
100 %
|
Cone Rod Distrophy , Panel Massive Sequencing (NGS) 30 Genes.
By Reference Laboratory Genetics in Spain.
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9 , (...)
View the complete list with 10 more genes
AIPL1, BEST1, ABCA4, CACNA1F, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, CDHR1, PDE6C, ADAM9, CACNA2D4, CABP4, KCNV2, SEMA4A, RGS9, CERKL, RIMS1, GUCA1A, PITPNM3, RDH5, UNC119, RAX2, PDE6H, CNNM4, RGS9BP
Specificity
4 %
Genes
100 %
|
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes.
By Reference Laboratory Genetics in Spain.
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B , (...)
View the complete list with 37 more genes
ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX, CRB1, IDH3B, C8orf37, PRPF6, MERTK, DHDDS, GUCA1B, PDE6A, RGR, CNGB1, FAM161A, CNGA1, NRL, PDE6G, IMPG2, PCARE, LRAT, KLHL7, RDH12, PRCD, SNRNP200, SEMA4A, TOPORS, FLVCR1, CERKL, FSCN2, EYS, CA4, PRPF31, PRPF8, RP2, BBS1, RP9, MAK, NR2E3, PRPF3, RBP3, ROM1, GNPTG
Specificity
2 %
Genes
100 %
|
Retinitis Pigmentosa, X-linked, And Sinorespiratory Infections, With Or Without Deafness