Panel Name, Specifity and genes Tested/covered |
Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel.
By CeGaT GmbH in Germany.
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)
View the complete list with 7 more genes
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, PCYT1A, XYLT1, PAPSS2, KIF22, POP1
Specificity
8 %
Genes
100 %
|
POP1.
By Fulgent Genetics Fulgent Genetics in United States.
POP1
Specificity
100 %
Genes
50 %
|
RMRP Sequence Analysis.
By Baylor Miraca Genetics Laboratories in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories in United States.
RMRP
Specificity
100 %
Genes
50 %
|
GeneAware Complete Panel Version 2 (Female).
By Baylor Miraca Genetics Laboratories in United States.
FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)
View the complete list with 139 more genes
FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, OCRL, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, MECP2, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, OTC, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, BTK, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216
Specificity
1 %
Genes
50 %
|
GeneAware Complete Panel Version 2 (Male).
By Baylor Miraca Genetics Laboratories in United States.
UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)
View the complete list with 129 more genes
UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, NPHP1, CLRN1, USH2A, PCDH15, DLD, POLG, SLC25A13, HADHA, FH, SMPD1, SLC26A4, CDH23, HPS3, DHDDS, FAH, HMGCL, G6PC, PCCB, PCCA, GLDC, AMT, MPI, ETHE1, MYO7A, HEXA, ALDH3A2, HEXB, CTSK, PTS, PAH, AGXT, CPT1A, CHAT, SGSH, DBT, MAN2B1, GALC, IVD, SLC25A15, CBS, GCDH, GALT, LRPPRC, ASS1, CYP27A1, SLC22A5, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, RMRP, SMN1, ATM, NBN, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, HBA2, NEB, CTNS, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PLA2G6, PKHD1, RAPSN, TGM1, DPYD, TMEM216
Specificity
1 %
Genes
50 %
|
Bone Marrow Failure Syndromes 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.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1 , (...)
View the complete list with 39 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, FANCB, DKC1, LYST, TERC, TERT, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, RAB27A, CSF3R, ELANE, RPL15, G6PC3, VPS45, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
50 %
|
Severe Combined Immunodeficiency and T Cell Disorders 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.
ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
5 %
Genes
50 %
|
Bone Marrow Failure Syndromes Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26 , (...)
View the complete list with 35 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, RAD51C, MPL, RTEL1, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS24, FANCB, DKC1, LYST, TERC, TERT, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, ERCC4, SRP72, RPS7, USB1, RAB27A, CSF3R, ELANE, G6PC3, VPS45, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
50 %
|
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
ADA, IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
6 %
Genes
50 %
|
RMRP Sequencing.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP Deletion/duplication analysis.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP - Cartilage-Hair Hypoplasia-Anauxetic Dysplasia Spectrum Disorders.
By Centre of Molecular Diseases (CMM) CHUV in Switzerland.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP Gene Sequencing.
By GeneDx in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
CHOP Comprehensive Hereditary Cancer Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.
BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH , (...)
View the complete list with 86 more genes
BRCA1, BRCA2, HFE, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, ABCB11, RB1, SDHAF2, RET, SLC25A13, SDHC, FH, FAH, SDHB, HAX1, MEN1, SDHA, FANCC, GBA, BLM, GJB2, HRAS, PTPN11, RMRP, CBL, ALK, ATM, NBN, PTCH1, PHOX2B, NF2, PALB2, CDH1, CDK4, CDKN2A, CDKN1C, SDHD, FLCN, MET, GPC3, CHEK2, MAX, BMPR1A, SMAD4, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRKAR1A, CDC73, RAD51C, RAD51D, SERPINA1, MPL, NF1, ERCC2, ERCC3, DKC1, DOCK8, SMARCE1, SMARCA4, SMARCB1, SH2D1A, PRSS1, KIT, FANCA, FANCG, BAP1, CDKN1B, ERCC4, POLD1, EGFR, PDGFRA, IKZF1, ETV6, POLE, AXIN2, EXT2, EXT1, ELANE, ITK, G6PC3, COL7A1, DDX41, DICER1, ERCC5, XPA, BUB1B, CYLD, RHBDF2, HMBS, ARID5B, POLH, CEBPE, MTAP, DIS3L2, DDB2
Specificity
1 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis (sequence analysis of RMRP gene).
By CGC Genetics in Portugal.
RMRP
Specificity
100 %
Genes
50 %
|
Skeletal dysplasia (NGS panel for 31 genes).
By CGC Genetics in Portugal.
ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL , (...)
View the complete list with 11 more genes
ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9
Specificity
4 %
Genes
50 %
|
cartilage-hair hypoplasia, RMRP gene mutation analysis.
By Laboratory of Genetics HUSLAB in Finland.
RMRP
Specificity
100 %
Genes
50 %
|
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics in United States.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)
View the complete list with 238 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH, SERPINF1, SP7, SLC39A13, COG1, P3H1, CRTAP, PLOD2, SQSTM1, AGPS, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, COL5A1, COL5A2, FGFR3, COL10A1, CREBBP, PLOD1, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, GPC3, SBDS, PRKAR1A, ADAMTS2, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PROK2, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, ANKRD11, FGD1, LBR, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, WDR35, CANT1, PTH1R, EBP, NSDHL, RAB23, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFBR1, TGFBR2, SKI, FBN2, FKBP14, TNXB, CHST14, ZNF469, ACVR1, NFIX, GLI3, TP63, GDF6, IFT140, CDH3, BMPR1B, WDR19, PIEZO2, PITX1, ZMPSTE24, RIPK4, FGF10, LHX4, ALX4, SALL4, TBX5, EP300, EFNB1, EFTUD2, ASXL1, SH3BP2, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, GORAB, TTC21B, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, HOXA11, FREM1, ALX1, GDF3, EXT2, EXT1, MGP, SMARCAL1, TCTN3, AFF4, SRCAP, CEP120, WNT5A, RIN2, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, WNT7A, CCNQ, IRF6, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, MEGF8, ERF, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, OBSL1, CCDC8, FAM111A, ENPP1, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, HES7, LFNG, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, HPGD, PTHLH, GDF5, TRAPPC2, MATN3, MEOX1, HDAC4, TBX3, DDR2, EOGT, MMP13, SNX10, INPPL1, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, WNT3, SMOC1, BHLHA9, IHH, XYLT1, TBX6, GHSR, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, ACAN, ADAMTS17, KIF22, RASGRP2, TBX4, TXNL4A, NPPC, SULF1, COL27A1, DDX59, TGDS
Specificity
1 %
Genes
50 %
|
Cartilage-hair Hypoplasia (CHH) and Related Disorders via the RMRP Gene.
By PreventionGenetics PreventionGenetics in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Skeletal dysplasia extended NGS panel.
By Connective Tissue Gene Tests in United States.
COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
50 %
|
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
2 %
Genes
50 %
|
Skeletal dysplasia core & extended Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)
View the complete list with 9 more genes
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9
Specificity
4 %
Genes
50 %
|
Skeletal dysplasia extended Comprehensive panel.
By Connective Tissue Gene Tests in United States.
COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
50 %
|
Skeletal dysplasia core & extended Comprehensive panel.
By Connective Tissue Gene Tests in United States.
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)
View the complete list with 9 more genes
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9
Specificity
4 %
Genes
50 %
|
Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
2 %
Genes
50 %
|
Spondylo-Epi-Metaphyseal dysplasias NGS panel.
By Connective Tissue Gene Tests in United States.
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410 , (...)
View the complete list with 34 more genes
COL2A1, FGFR3, COL10A1, IDUA, RMRP, RUNX2, SBDS, SLC26A2, TRPV4, HSPG2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CANT1, PTH1R, COMP, DYM, CFAP410, B3GAT3, BGN, B3GALT6, EIF2AK3, SMARCAL1, NEK1, RNU4ATAC, WISP3, CHST3, IMPAD1, NKX3-2, ACP5, FLNB, LIFR, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, MMP9, PCYT1A, NPR2, IHH, GPX4, XYLT1, PAPSS2, FN1, ACAN, KIF22, NANS, LONP1, PAM16, RSPRY1
Specificity
2 %
Genes
50 %
|
Skeletal dysplasia core & extended NGS panel.
By Connective Tissue Gene Tests in United States.
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE , (...)
View the complete list with 9 more genes
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, SOX9, ARSE, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, DDR2, MMP13, INPPL1, MMP9
Specificity
4 %
Genes
50 %
|
Skeletal dysplasia extended Deletion / Duplication panel.
By Connective Tissue Gene Tests in United States.
COL10A1, RMRP, SBDS, PEX7, TRPV4, HSPG2, LBR, COL11A1, COL11A2, PTH1R, EBP, NSDHL, ARSE, FLNB, LIFR, SLC35D1, DDR2, MMP13, MMP9
Specificity
6 %
Genes
50 %
|
Cartilage-hair hypoplasia Comprehensive test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis Comprehensive test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Anauxetic dysplasia Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Cartilage-hair hypoplasia Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis Sequencing test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Cartilage-hair hypoplasia Sequencing test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Anauxetic dysplasia Seqeuncing test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis Deletion / Duplication test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Anauxetic dysplasia Comprehensive test.
By Connective Tissue Gene Tests in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Mental retardation - different panels.
By Institute of Human Genetics Cologne University in Germany.
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)
View the complete list with 847 more genes
FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6, MTR, INPP5E, MTRR, PYCR1, CC2D2A, PRODH, ATP6V0A2, SRD5A3, HSD17B10, OCRL, ELOVL4, NDP, OTX2, HPRT1, NHS, TMEM67, ARL6, NPHP1, MKKS, CEP290, TTC8, TRIM32, SHH, DLD, NDUFS4, PANK2, RAF1, FH, SMPD1, MECP2, PDSS2, PDSS1, ACO2, NDUFA12, DDOST, ALDH18A1, DNM1L, ACSF3, CCDC28B, TAT, NUBPL, DPM3, PGM1, GAMT, GATM, AK1, SDHB, STXBP1, COQ8A, RFT1, MRPS22, TUBA1A, COG1, COG8, DARS2, TUSC3, HAX1, DNAJC19, CTSD, SLC25A22, MPDU1, DPM1, COG7, ALG9, ALG1, AP3B1, ALG8, ALG2, GRN, COQ2, ALG12, B4GALT1, GCSH, GLDC, AMT, SCO2, SLC35A1, GAD1, ALG6, MPI, ETHE1, STRA6, ALG3, D2HGDH, PUS1, HCCS, PDHA1, GK, TIMM8A, AIFM1, MAOA, ACSL4, SLC9A6, BCOR, ABCD1, MMADHC, ABHD5, SUOX, ALDH5A1, ALDH3A2, SLC35C1, ACOX1, CA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, GUSB, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFA1, NDUFA11, NDUFS1, NDUFV1, NDUFS2, NDUFAF5, MMAA, MUT, CYB5R3, DBT, MANBA, MAN2B1, MLYCD, SLC25A15, L2HGDH, CBS, GALT, GALE, LRPPRC, MGAT2, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, APTX, ASL, SOX2, TPP1, CLN3, HESX1, PPOX, WWOX, FARS2, SLC6A8, PDHX, SDHA, ABCD4, AGA, AHCY, DOLK, DPAGT1, MOGS, HPD, MGME1, PNP, FGFR3, ASPA, ARX, BLM, BRAF, CDKL5, CHD7, CREBBP, DHCR7, DMD, FOXG1, GJC2, HRAS, IDS, IDUA, IKBKG, KRAS, MAP2K1, MEF2C, DMPK, NRAS, PCDH19, PLP1, PORCN, PTPN11, RAI1, RMRP, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, SOS2, HDAC8, RIT1, MAP2K2, TSC2, RAD21, CBL, SYNGAP1, SMC3, SMC1A, TSC1, NIPBL, NSD1, NBN, PTCH1, GPC3, SMAD4, CLN6, CLN8, FKTN, PPT1, PEX7, SLC35A3, TH, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, CLN5, PHGDH, DPYD, TMEM216, FIG4, NTRK1, MT-TL1, ZFYVE26, MT-TK, MT-ATP6, SPG11, SCN1A, AHI1, FKRP, ATXN10, GCH1, NF1, FGFR1, KCNJ11, L1CAM, SLC33A1, BSCL2, WASHC5, KIF1A, SPART, CCDC78, DYNC1H1, VRK1, TRAPPC11, DAG1, POMT2, POMT1, ISPD, ANO10, SIL1, GRM1, LAMA2, DPM2, POMGNT2, CHKB, LARGE1, B3GALNT2, MCPH1, ASPM, ATP1A2, ATP1A3, GABRB3, KCTD7, ST3GAL5, SCN2A, SLC35A2, SLC6A1, GRIN2B, HCN1, KCNT1, KCNQ2, KCNQ3, CHD2, GABRA1, GRIN2A, MBD5, ALG13, ASAH1, TBC1D24, PRIMA1, DEPDC5, PRRT2, BRAT1, PIGO, COL4A1, ARFGEF2, CENPJ, DEAF1, DCX, EMX2, QARS, NDE1, PQBP1, RAB3GAP1, SIX3, RELN, TUBA8, FLNA, PAFAH1B1, ADGRG1, STIL, TUBB2B, CTSF, DNAJC5, MFSD8, ATP13A2, KMT2D, CACNA2D2, SETD2, TBL1XR1, SPATA5, EEF1A2, KCNA2, DNM1, SIK1, PURA, KCNB1, SLC13A5, DOCK7, NR2F1, NEXMIF, SZT2, GNAO1, WDR45, ST3GAL3, KANSL1, ROGDI, SCN8A, PIGA, NRXN1, GRIN1, DYRK1A, PIGN, PIGV, ANKRD11, PLCB1, SPTAN1, PNKP, SAMHD1, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, CNTNAP2, KIF1BP, OFD1, SMS, ATRX, IQSEC2, FGD1, PHF6, SYP, GRIA3, ARHGEF9, PAK3, KDM5C, SYN1, OPHN1, ATP6AP2, CASK, CUL4B, RAB39B, SETBP1, ZEB2, TREX1, VPS13B, GFAP, ATP2A2, SHANK3, SHANK2, SALL1, ACTB, ACTG1, ATP6V1B2, ERCC2, ERCC3, PNPT1, NLRP3, DIAPH1, SOX10, MT-TS1, PRPS1, PEX6, NARS2, FUCA1, PTCHD1, ADNP, MID1, MED12, LAMC3, FOXP1, EHMT1, CACNA1C, AP1S2, CHD8, HOXA1, TBR1, TMEM231, ARID1B, CTNNB1, NLGN4X, NLGN3, LZTR1, KIAA0586, PEX13, PEX26, PEX10, PEX12, PEX5, KAT6B, MVK, NEU1, CCBE1, PHF8, HUWE1, HCFC1, AFF2, MBTPS2, LAMP2, MAGT1, ZNF711, DKC1, DLG3, TSPAN7, UBE2A, UPF3B, USP9X, ZC4H2, GDI1, FTSJ1, RPS6KA3, SHROOM4, RPL10, RAB40AL, ZDHHC9, BRWD3, CLIC2, TAF1, SLC16A2, SOX3, NAA10, NSDHL, ARHGEF6, ZNF81, IL1RAPL1, LAS1L, EIF2S3, FRMPD4, CLCN4, CCDC22, CNKSR2, THOC2, SPRED1, NSUN2, RASA2, RRAS, NECAP1, MTOR, EXOSC3, TUBB2A, TGIF1, ZIC2, NALCN, CEP152, CDON, GLI2, CDK5RAP2, PCNT, ATR, NAGA, DYM, TGFBR1, TGFBR2, SKI, ACVR1, DNMT3A, NFIX, EZH2, GLI3, ABCC9, MAGEL2, KDM6A, DHTKD1, AARS, MED25, POC1B, MAF, SLC4A4, NKX2-1, EMC1, FBXL4, POMK, GMPPB, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ERCC6, ARID2, SMARCE1, KMT2A, SMARCA4, SMARCB1, ARID1A, SMARCA2, HACE1, MAG, IFIH1, PGAP1, ENTPD1, NT5C2, B4GALNT1, TUBB4A, GBA2, CYP2U1, DDHD2, TECPR2, ADAR, VPS37A, ERLIN2, RAB3GAP2, AP4S1, AP4B1, AP4E1, AP4M1, STAMBP, KIF11, CTDP1, PGK1, MT-CO2, MT-ND5, MT-CO1, MT-CO3, DPP6, THRB, EP300, RNASET2, EFTUD2, ASXL1, GNPAT, GNAS, WNT1, FANCD2, SOX5, SATB2, KATNAL2, AUTS2, MASP1, ERCC4, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, KIF7, CEP41, CPLANE1, ARL13B, PIK3CA, RAB18, IER3IP1, RBBP8, MYCN, VLDLR, COX10, MT-TV, COG4, ALG11, COG6, COG5, TMEM165, MAT1A, EARS2, DDC, SLC6A3, EIF2AK3, DHCR24, MYO5A, RAB27A, STIM1, RARB, B3GLCT, PIK3R2, AKT3, ERCC8, LIG4, TPI1, GSS, PRKRA, EPG5, PIK3R1, PACS1, PGM3, TCTN3, MICU1, UBR1, OCLN, KCNJ6, AGPAT2, IFT172, PRMT7, AFF4, SRCAP, KIAA0556, CEP104, PDE6D, CSPP1, KPTN, RNF125, TBC1D7, HEPACAM, TRMT10A, ZBTB20, ZNF423, CEP83, TBC1D20, RTTN, ESCO2, DNMT3B, FRAS1, CDK5, KATNB1, TUBG1, KIF5C, KIF2A, ASNS, SNAP29, PDE4D, PTDSS1, CCDC88C, MPDZ, LAMB1, SLC25A1, MED17, MFSD2A, CENPE, CDK6, CEP135, CEP63, ZMYND11, TTI2, TAF2, SLC6A17, SETD5, NDST1, MID2, METTL23, KIF4A, FMN2, FBXO31, CRADD, ADAT3, GATAD2B, CTCF, ANK3, TECR, MED23, LRP2, LINS1, C12orf57, SOBP, CDH15, ZNF526, ZC3H14, TRAPPC9, PRSS12, MAN1B1, GRIK2, CRBN, CC2D1A, CA8, DPH1, MEGF8, TCF12, ORC1, GMNN, PLK4, LARP7, POC1A, PYCR2, TUBGCP4, ASXL3, TUBGCP6, TBCE, PPP1R15B, SLC1A4, SERAC1, CLPB, KMT2B, BCAP31, ACY1, CACNA1G, COL18A1, LAMA1, PTRH2, SCYL1, ERCC5, COQ4, PMPCA, XPA, WDR81, POLR3A, POLR3B, PET100, APOPT1, SNX14, WDR73, CHAMP1, PIGG, ZSWIM6, BUB1B, AP1S1, MPLKIP, GTF2H5, CA5A, PEPD, FAM126A, DHFR, COL4A2, PEX11B, POGZ, DDX3X, KAT6A, IGF1, COLEC11, HDAC4, SLC12A5, PIGT, RBM28, GPHN, SSR4, UBE3B, AIMP1, STT3B, STT3A, TMCO1, ERCC1, FTO, CLP1, HMGB3, MAB21L2, SMOC1, RNF113A, MFF, FAR1, SC5D, UNC80, UPB1, NECTIN1, CAD, KCNH1, RLIM, KLHL15, USP27X, DARS, DDX59, KDM1A, JAM3, ISCA2, ELP2, TRIO, MED13L, MYT1L, DCPS, TRIP12, TCF20, GABBR2, PPP2R1A, FASN, SNX27, ITPA, RMND1, SFXN4, RSPRY1, GTF2E2, APC2, HNRNPK, HIST1H4B, GON4L, SLC39A6, SCAPER, ADRA2B, KRBOX4, CCNA2, KDM6B, MEIS2, PGAP3, PECR, CKAP2L, CASP2, FRMD4A, GEMIN4, INPP4A, ZCCHC8, HIKESHI, SLC25A16, RABL6, TMEM135, GPT2, ASCC3, HIST3H3, CNKSR1, WAC, KDM5A, ACBD6, CCDC88A, AHDC1, TM4SF20, HERC2, SETD1A, KCNK9, ZBTB40, RALGDS, IMPA1, TANGO2, GMPPA, PGAP2, TRMT1, SLC31A1, CAPN10, PARP1, UBR7, EEF1B2, DIP2B, WDR45B, CCDC115, ADK, COL4A3BP, RGS7, FRY, EXOSC2, PPP2R5D, PRMT9
Specificity
1 %
Genes
50 %
|
B-positive SCID panel.
By Centogene AG - the Rare Disease Company in Germany.
IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
7 %
Genes
50 %
|
Comprehensive SCID panel.
By Centogene AG - the Rare Disease Company in Germany.
AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC , (...)
View the complete list with 3 more genes
AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
5 %
Genes
50 %
|
Metaphyseal dysplasia panel.
By Centogene AG - the Rare Disease Company in Germany.
ANKH, RMRP, RUNX2, CDKN1C, FLNA, NKX3-2, MMP13, MMP9
Specificity
13 %
Genes
50 %
|
CentoICU platinum plus.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
CentoICU platinum.
By Centogene AG - the Rare Disease Company in Germany.
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)
View the complete list with 494 more genes
BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, ATP8B1, AUH, BCKDHA, BCKDHB, BCS1L, C12orf65, GAA, ADSL, HNF1A, HBB, MMACHC, EYA1, COL1A1, COL1A2, STAR, WT1, RB1, PSEN1, HNF1B, MTR, RET, SLC37A4, EYA4, ABCA12, SLC16A1, MTRR, HSD17B4, CPS1, CPT2, KRT5, TRMU, WFS1, COMT, PSAP, GNPTAB, GLB1, PRODH, GNE, HSD17B10, JAG1, HPRT1, MKKS, ADGRV1, CEP290, AASS, DLD, POLG, NDUFS4, SLC25A19, GCK, CYP11B1, FOXRED1, NDUFAF2, ALAS2, SLC25A13, HADHA, RAF1, OPA3, FH, SMPD1, MECP2, CYP11B2, FBN1, COQ9, PDSS2, PDSS1, LIAS, ACSF3, PDHB, ALDH6A1, NFU1, FAH, NDUFAF1, HMGCL, HSD3B2, TAT, ABAT, GAMT, GATM, SPR, STXBP1, SUCLA2, ACAD8, P3H1, CRTAP, DNAJC19, CTSD, ACADSB, HADHB, PDP1, UNG, UCP2, COQ2, PCCA, HMGCS2, GLDC, AMT, ETHE1, D2HGDH, OTC, PDHA1, GK, TAZ, AIFM1, SLC9A6, MMADHC, LMBRD1, TCN2, HEXA, SUOX, ALDH5A1, ALDH3A2, HEXB, ALDH7A1, ACOX1, PTS, QDPR, PAH, AGXT, OAT, CTSA, NDUFA2, COX15, NDUFS7, NDUFAF6, CPT1A, GUSB, GALNS, MOCS2, MOCS1, SDHAF1, NDUFA11, NDUFV2, NDUFS2, NDUFAF5, MMAB, MMAA, MUT, HIBCH, DBT, MAN2B1, MLYCD, SUCLG1, DLAT, GALC, OXCT1, IVD, NAGS, CBS, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, GLYCTK, LRPPRC, SLC3A1, ASS1, SLC22A5, SLC25A20, PMM2, ASL, SOX2, ALMS1, OGDH, CYP17A1, ANKRD26, HESX1, PAX2, PDHX, ABCD4, ADA, AGA, AHCY, ARSB, SUGCT, DOLK, GNMT, HPD, IL2RG, PNP, TSHR, ARSA, ASPA, CFTR, FANCC, BRAF, CDKL5, CHD7, DHCR7, FOXG1, GJB2, GLA, HRAS, KRAS, LIPA, MAP2K1, MEF2C, NPC1, NPC2, NRAS, PLOD1, POMC, PTPN11, RMRP, RPS19, SHOC2, SLC2A1, SOS1, WDR62, FGFR2, MAP2K2, TSC2, TSC1, NIPBL, NSD1, PHOX2B, GPC3, SBDS, LAMB3, FKTN, G6PD, CTNS, PROP1, DCLRE1C, SERPINA1, SLC7A7, SLC26A2, UGT1A1, LAMA3, SUMF1, WAS, ABCC8, BTK, LAMC2, PHGDH, PKHD1, TGM1, PMP22, EGR2, WNK1, CSTB, SCN1A, GCH1, NR0B1, KCNJ11, CASR, INS, PDX1, HNF4A, POU1F1, BSND, PKD2, PLEC, POMT2, POMT1, LAMA2, MCPH1, ASPM, NHLRC1, KCNH2, ST3GAL5, SCN2A, KCNQ2, KCNQ3, PNPO, EPM2A, BCKDK, CENPJ, RAB3GAP1, STIL, KMT2D, SPTAN1, KCNJ10, TCF4, ATRX, CASK, ZEB2, SALL1, ATP6V1B1, CACNA1D, EDN3, COL11A1, PNPT1, PAX3, KCNQ4, SIX5, PRPS1, KCNE1, KCNQ1, SIX1, GATA3, TJP2, FUCA1, CACNA1C, GATA1, KLF1, MVK, PKLR, UROS, NEU1, CDAN1, MAGT1, FANCB, RPS6KA3, NAA10, COMP, SPRED1, CEP152, CDK5RAP2, PCNT, ATR, CACNB2, GPSM2, MITF, CALM1, AKAP9, KDM6A, SFTPD, DOCK8, ABCA3, SFTPC, SFTPB, PRKAG2, DNA2, RAB3GAP2, F11, SPINK1, TBX19, LHX4, LHX3, CD320, SALL4, TBX5, JAK3, GNAS, F9, F8, ADAMTS13, FANCA, FANCD2, BDNF, AKR1D1, EVC, EVC2, RAB18, IER3IP1, RBBP8, MYCN, SLC46A1, MAT1A, DDC, PCBD1, PSPH, HADH, APOC2, AKT2, GLIS3, PTF1A, EIF2AK3, GP1BA, FGA, FGB, FGG, P2RX1, P2RY12, STIM1, GFI1B, ITGB3, ITGA2B, MASTL, TNFRSF13B, AICDA, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, GNA11, INSR, SLC4A1, ELANE, RBM8A, LAMTOR2, RAC2, NHEJ1, LIG4, PTPRC, SPTB, SPTA1, ANK1, EPB42, GSS, C15orf41, PIK3CD, LRBA, PROS1, ITGB4, ITGA6, COL17A1, COL7A1, IL12RB1, NFKB2, ABCC2, JAGN1, F7, CD19, CR2, CD81, ICOS, PRKDC, TNFRSF13C, NOTCH2, CARD11, IL2RA, TSPYL1, FRAS1, ASNS, ACTN1, GP9, SLC25A1, PAX8, TSHB, THRA, DUOXA2, DUOX2, SLC5A5, TPO, TG, SERAC1, COA5, PET100, F10, SERPING1, ALOX12B, NIPAL4, CERS3, STS, ALOXE3, PNPLA1, CYP4F22, LIPN, PSAT1, SLCO1B1, SLCO1B3, LRRC8A, BLNK, CD79A, IGLL1, CD79B, F13A1, PEPD, SERPINC1, SLC52A1, TRHR, UMPS, HGD, IGF1, PCK1, IL21R, MALT1, IGF1R, GPHN, UQCRC2, MCM4, CD3G, CORO1A, UPB1, MPC1, UQCC2, ADK, CD247, IRF8, CTPS1, IL2, OPRM1, SOX6, CABS1, LCK, IKBKB, PPM1K, OPLAH
Specificity
1 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis.
By Centogene AG - the Rare Disease Company in Germany.
RMRP
Specificity
100 %
Genes
50 %
|
Nuclear encoded Mitochondriopathies Panel.
By CeGaT GmbH in Germany.
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB , (...)
View the complete list with 263 more genes
MCCC1, MCCC2, AARS2, ACAD9, ACADM, ACADS, ACADVL, ACAT1, YARS2, FBP1, PC, UQCRQ, UQCRB, HLCS, ATP5F1E, BTD, ATPAF2, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, STAR, ELAC2, SDHAF2, AMACR, CPS1, CPT2, OPA1, TRMU, WFS1, HSD17B10, DLD, POLG, NDUFS4, HSPD1, SLC25A19, SLC25A4, GCK, GARS, AFG3L2, FOXRED1, RRM2B, NDUFAF2, KIF1B, ALAS2, SLC25A13, MFN2, SDHC, PANK2, HADHA, OPA3, FH, MTO1, COQ9, PDSS2, PDSS1, COQ6, MRPL3, ACO2, NDUFA12, IDH3B, DHODH, LIAS, NDUFB3, NDUFA9, COX14, AGK, DNM1L, DGUOK, BOLA3, DIABLO, PDHB, ALDH6A1, TMEM70, SARS2, NFU1, PCK2, NDUFAF1, HMGCL, TTC19, MTPAP, XPNPEP3, NDUFA10, NUBPL, IDH2, KARS, GFER, TMEM126A, SLC25A12, GAMT, GATM, COX4I2, SDHB, SUCLA2, COQ8A, CYCS, MRPS22, RARS2, ACAD8, DARS2, SLC25A3, PNPLA2, TUFM, TSFM, MRPS16, HTRA2, REEP1, DNAJC19, POLG2, ACADSB, TK2, SLC25A22, GFM1, HADHB, PDP1, UNG, COQ2, SPG7, GLUD1, PARK7, PCCB, PCCA, HMGCS2, PINK1, GCSH, GLDC, AMT, DMGDH, CISD2, SCO2, TYMP, ETHE1, D2HGDH, PUS1, OTC, HCCS, PDHA1, GK, TIMM8A, TAZ, ABCB7, AIFM1, MAOA, MMADHC, AK2, OAT, MPV17, NDUFA2, COX15, SURF1, NDUFS8, NDUFS7, NDUFS3, NDUFAF6, ISCU, CPT1A, SDHAF1, NDUFAF3, NDUFA1, NDUFA11, NDUFAF4, NDUFS1, NDUFV1, NDUFV2, NDUFS6, NDUFS2, NDUFAF5, MCEE, MMAB, MMAA, MUT, CYB5R3, HIBCH, DBT, MLYCD, SUCLG1, DLAT, OXCT1, IVD, ALDH4A1, SLC25A15, NAGS, L2HGDH, HK1, ETFB, ETFA, ETFDH, GCDH, FXN, LRPPRC, FASTKD2, COX6B1, CYP27A1, SLC22A5, SLC25A20, PRKN, APTX, SLC25A38, GLRX5, OGDH, PPOX, WWOX, PNKD, TACO1, FARS2, HARS2, SLC6A8, MTFMT, PDHX, SDHA, MGME1, RMRP, SDHD, SACS, GDAP1, ATL1, MT-TL1, MT-ATP6, MT-ND1, MT-ND6, MT-ND4, SPAST, KIF5A, SLC33A1, SPART, SLC19A3, SAMHD1, CLPP, PNPT1, SLC19A2, MT-TS1, MT-TS2, LARS2, MT-RNR1, PDK3, DNA2, ERCC6, DDHD1, FDX2, MT-CYB, MT-ND2, MT-CO2, MT-ND5, MT-CO1, MT-RNR2, MT-CO3, MT-ND3, MT-ATP8, COASY, MARS2, COX10, SCO1, MT-TL2, TPK1, EARS2, HADH, IDH1, COQ8B, HOGA1, IBA57, SLC25A1, COX20, SERAC1, COA5, PET100, CHCHD10, DECR1, UQCRC2, YWHAE, ATP5F1A, MPC1, NDUFB9, CYC1, COX7B, MRPL44, LYRM4, RMND1, SFXN4, BCAT2, CRAT, CEP89
Specificity
1 %
Genes
50 %
|
Metaphyseal dysplasia Panel.
By CeGaT GmbH in Germany.
FGFR3, COL10A1, RMRP, RUNX2, SBDS, PTH1R, MMP13, MMP9
Specificity
13 %
Genes
50 %
|
Syndromes with immunodeficiency Panel.
By CeGaT GmbH in Germany.
PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC , (...)
View the complete list with 18 more genes
PMS2, STAT3, BLM, RMRP, RUNX2, TINF2, FGFR2, ATM, MRE11, NBN, WAS, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, NLRP3, DKC1, TERC, TERT, DOCK8, ADAR, FGF10, CFH, NHP2, NOD2, PDGFRA, SMARCAL1, TYK2, DNMT3B, RNF168, SPINK5, MCM4, ZBTB24, FCGR3A, RPSA, SP110
Specificity
3 %
Genes
50 %
|
Combined immunodeficiencies Panel.
By CeGaT GmbH in Germany.
TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)
View the complete list with 40 more genes
TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TTC7A, CR2, PRKDC, CARD11, ACP5, IL21R, MALT1, MBL2, CD3G, CORO1A, CD8A, CD247, LCK, IKBKB, RHOH, TNFRSF4, TRAC, TAP2, TAPBP
Specificity
2 %
Genes
50 %
|
Family Prep Screen.
By Counsyl in United States.
F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4 , (...)
View the complete list with 90 more genes
F2, F5, FMR1, HFE, MTHFR, ACADM, ACADS, AGL, ACADVL, ALDOB, ALPL, BTD, ATP7B, BCKDHB, BCS1L, GAA, HBB, CHM, SLC37A4, HSD17B4, CPT2, GNE, CNGB3, CLRN1, PCDH15, DLD, HADHA, OPA3, SMPD1, SLC26A4, RS1, FAH, G6PC, MPI, HEXA, ALDH3A2, CTSK, PAH, AGXT, CPT1A, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, TPP1, CLN3, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, IDUA, NPC1, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SLC12A6, SLC17A5, TTPA, ABCC8, CLN5, LAMC2, PKHD1, DPYD, TMEM216, CYP21A2, VPS13B, MEFV, F11, HGD, BCHE
Specificity
1 %
Genes
50 %
|
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
50 %
|
Invitae Monogenic Autoimmunity Panel.
By Invitae in United States.
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)
View the complete list with 53 more genes
STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5
Specificity
2 %
Genes
50 %
|
Invitae Primary Immunodeficiency Panel.
By Invitae in United States.
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 187 more genes
PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7
Specificity
1 %
Genes
50 %
|
Invitae Syndromic Combined Immunodeficiency (CID) Panel.
By Invitae in United States.
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10 , (...)
View the complete list with 17 more genes
PMS2, TCN2, STAT3, PNP, CHD7, RMRP, TINF2, ATM, NBN, RTEL1, WAS, TBX1, SEMA3E, DKC1, TERC, TERT, PARN, CTC1, NHP2, NOP10, STIM1, POLE, STAT5B, ORAI1, FOXN1, NFKBIA, WIPF1, EPG5, SMARCAL1, TTC7A, ACD, PGM3, DNMT3B, SPINK5, ZBTB24, SP110, DCLRE1B
Specificity
3 %
Genes
50 %
|
Metaphyseal chondrodysplasia, Mckusick type: RMRP gene regulatory region.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
Skeletal dysplasias.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)
View the complete list with 16 more genes
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP, NSDHL, COMP, SOX9, EVC, EVC2, ARSE, WISP3, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, MATN3, DDR2, MMP13, MMP9
Specificity
3 %
Genes
50 %
|
Pan-Ethnic Carrier Screen: Gene Sequencing Panel.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.
FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4 , (...)
View the complete list with 127 more genes
FMR1, HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, CHM, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, MECP2, SLC26A4, RS1, FAH, G6PC, MPI, OTC, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GJB6, GLA, IDS, IDUA, RMRP, SMN1, ATM, NBN, CLN8, HBA1, LAMB3, FKTN, G6PD, HBA2, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, VWF, F9, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1
Specificity
1 %
Genes
50 %
|
Cartilage-Hair Hypoplasia (RMRP).
By Integrated Genetics Westborough Integrated Genetics in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Inheritest NGS, Comprehensive.
By Integrated Genetics Westborough Integrated Genetics in United States.
FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)
View the complete list with 120 more genes
FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB, GLB1, CLRN1, PCDH15, DLD, NDUFS4, FOXRED1, NDUFAF2, HADHA, SMPD1, DHDDS, FAH, HMGCL, G6PC, GAMT, PCCB, PCCA, GLDC, AMT, ETHE1, OTC, PDHA1, HEXA, ALDH3A2, HEXB, PAH, AGXT, CTSA, COX15, SURF1, NDUFS7, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFV1, MMAB, MMAA, MUT, MANBA, MAN2B1, GALC, CBS, GCDH, GALT, LRPPRC, ASS1, SLC22A5, SLC25A20, PMM2, BBS10, BBS1, BBS2, ASL, TPP1, CLN3, ADA, AGA, ARSB, IL2RG, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, IDS, IDUA, NPC1, NPC2, RMRP, ATM, NBN, ADAMTS2, CLN8, COL4A3, LAMB3, FKTN, MTTP, NEB, CTNS, PEX2, NPHS2, NPHS1, PPT1, PEX7, SACS, SLC26A2, SLC35A3, GRHPR, LAMA3, MCOLN1, MPL, PEX1, SLC12A6, SLC17A5, SUMF1, TTPA, ABCC8, CLN5, LAMC2, PHGDH, PKHD1, DPYD, TMEM216, VPS13B, PEX6, FUCA1, PEX26, PEX10, PEX12, NEU1, MEFV, GSS, ERCC5, XPA, XPC
Specificity
1 %
Genes
50 %
|
RMRP.
By Fulgent Genetics Fulgent Genetics in United States.
RMRP
Specificity
100 %
Genes
50 %
|
Ectodermal Dysplasia Panel.
By Blueprint Genetics in Finland.
BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR , (...)
View the complete list with 3 more genes
BCS1L, DSP, GJB2, GJB6, PORCN, RMRP, ERCC2, WDR35, TP63, CDH3, JUP, EVC, EVC2, IFT122, EDA, MPLKIP, EDAR, WNT10A, EDARADD, HR, LRP6, HOXC13, PRKD1
Specificity
5 %
Genes
50 %
|
Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel.
By Blueprint Genetics in Finland.
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3 , (...)
View the complete list with 8 more genes
COL2A1, SLC39A13, RMRP, TRPV4, HSPG2, COL11A1, COL11A2, CANT1, DYM, BGN, B3GALT6, EIF2AK3, SMARCAL1, WISP3, CHST3, NKX3-2, ACP5, RAB33B, TRAPPC2, MATN3, DDR2, MMP13, INPPL1, PCYT1A, PAPSS2, ACAN, KIF22, LONP1
Specificity
4 %
Genes
50 %
|
Hirschsprung Disease Panel.
By Blueprint Genetics in Finland.
RET, RMRP, PHOX2B, L1CAM, KIF1BP, ZEB2, EDN3, PAX3, EDNRB, SOX10, MITF, BDNF, NRTN, NRG1, CELSR3
Specificity
7 %
Genes
50 %
|
Primary Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)
View the complete list with 255 more genes
PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B
Specificity
1 %
Genes
50 %
|
Severe Combined Immunodeficiency Panel.
By Blueprint Genetics in Finland.
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)
View the complete list with 59 more genes
PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A, JAK3, STIM1, CD40, CD40LG, IFNGR1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, ITK, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, PIK3CD, LRBA, CD27, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, EPG5, SMARCAL1, PRKDC, TYK2, PGM3, CARD11, IL2RA, DNMT3B, SPINK5, ITGB2, MALT1, CD3G, CORO1A, STAT2, CD8A, CD247, IRF8, LCK, IKBKB, SP110, RHOH, TNFRSF4, TAP2, TAPBP, MAP3K14, NSMCE3, MSN, LAT, POLE2, TFRC, BCL11B
Specificity
2 %
Genes
50 %
|
Metaphyseal Dysplasia Panel.
By Blueprint Genetics in Finland.
ANKH, FGFR3, COL10A1, RMRP, RUNX2, CDKN1C, SBDS, FLNA, PTH1R, MMP13, MMP9
Specificity
10 %
Genes
50 %
|
Skeletal Dysplasias Core Panel.
By Blueprint Genetics in Finland.
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2 , (...)
View the complete list with 91 more genes
ALPL, ANKH, FKBP10, LRP5, COL2A1, COL1A1, COL1A2, TGFB1, TNFRSF11A, CLCN7, SERPINF1, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, CTSK, CYP27B1, FAM20C, CA2, TCIRG1, PPIB, TNFRSF11B, LMX1B, FGFR3, COL10A1, RMRP, RUNX2, VDR, FGFR2, CDKN1C, SMAD4, SBDS, PEX7, SLC26A2, TRPV4, FGFR1, SHOX, PHEX, FGF23, HSPG2, FLNA, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, KAT6B, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, ADAMTSL2, DYM, IFT140, LTBP2, BMPR1B, WDR19, GNPAT, PLS3, BMP1, SERPINH1, TTC21B, IFT80, EVC, EVC2, B3GALT6, EIF2AK3, DHCR24, SMARCAL1, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, ROR2, NEK1, ARSE, CUL7, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, ENPP1, SLC34A3, WISP3, CHST3, DLL3, ACP5, FLNB, LIFR, TRIP11, ADAMTS10, GDF5, TRAPPC2, MATN3, INPPL1, MMP9, NPR2, IHH, XYLT1, DVL1, PAPSS2, ACAN
Specificity
1 %
Genes
50 %
|
Comprehensive Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)
View the complete list with 226 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, LMX1B, ARSB, FGFR3, FANCC, COL10A1, CREBBP, IDS, PTPN11, RMRP, RUNX2, VDR, FGFR2, HDAC8, RAD21, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PEX7, SLC26A2, TRPV4, LMNA, NF1, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, ANKRD11, SETBP1, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, KAT6B, WDR35, CANT1, PTH1R, FANCB, EBP, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, PCNT, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, GNAS, GJA1, PLS3, TMEM38B, BMP1, WNT1, SERPINH1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, AKT1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, CSPP1, WNT5A, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, OBSL1, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, MATN3, TBX3, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L
Specificity
1 %
Genes
50 %
|
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.
By Blueprint Genetics in Finland.
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)
View the complete list with 288 more genes
RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, PITX2, OTX2, RAF1, FBN1, SERPINF1, SP7, SLC39A13, P3H1, CRTAP, PLOD2, AGPS, AIFM1, AMER1, CTSK, CYP27B1, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, SOX2, HESX1, LMX1B, COL5A1, COL5A2, ARSB, FGFR3, FANCC, BRAF, COL10A1, CREBBP, DHCR7, HRAS, IDS, KRAS, MAP2K1, NRAS, PTPN11, RMRP, RUNX2, SHOC2, SOS1, VDR, FGFR2, HDAC8, RIT1, MAP2K2, RAD21, CBL, SMC3, SMC1A, NIPBL, NSD1, CDKN1C, SMAD4, SBDS, PRKAR1A, PROP1, PEX7, SLC26A2, TRPV4, LMNA, NF1, GHRHR, FGFR1, SHOX, CASR, POU1F1, GH1, GHR, PHEX, FGF23, ANO5, HSPG2, CENPJ, FLNA, ANKRD11, FGD1, SETBP1, LBR, ACTB, ACTG1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, POLR1C, TCOF1, CHSY1, POLR1D, LZTR1, PEX14, PEX19, KAT6B, WDR35, CANT1, PTH1R, MBTPS2, FANCB, EBP, SOX3, NSDHL, POR, MSX2, TWIST1, COMP, SOX9, RASA2, RRAS, CEP152, GLI2, PCNT, ATR, ADAMTSL2, DYM, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, CHST14, ACVR1, NFIX, EZH2, GLI3, TP63, IFT140, LTBP2, SH3PXD2B, BMPR1B, TGFB3, WDR19, KMT2A, STAMBP, TBX19, LHX4, LHX3, ALX4, EP300, EFNB1, EFTUD2, SH3BP2, GNPAT, TRIM37, GNAS, GJA1, PLS3, SPARC, TMEM38B, BMP1, WNT1, SERPINH1, SEC24D, CREB3L1, B3GAT3, BGN, SLC29A3, TTC21B, KIF7, IFT43, IFT80, EVC, EVC2, PIK3CA, RBBP8, MYCN, B3GALT6, IFT122, EIF2AK3, DHCR24, VIPAS39, INSR, AKT1, EXT2, EXT1, STAT5B, MGP, SMARCAL1, NOTCH2, PGM3, TCTN3, IFT172, SRCAP, CSPP1, WNT5A, RTTN, DYNC2H1, ESCO2, HOXA13, ROR2, TBX15, CCNQ, NEK1, WDR60, ARSE, LRP4, CUL7, PDE4D, PTDSS1, BMPER, CEP63, CDC45, TCF12, ALX3, ORC1, CDC6, CDT1, ORC6, ORC4, RNU4ATAC, XRCC4, OBSL1, CCDC8, LARP7, POC1A, FAM111A, ENPP1, CLCN5, SLC34A3, DMP1, SF3B4, WISP3, MESP2, MMP2, GPC6, HOXD13, CHST3, IMPAD1, NKX3-2, DLL3, ACP5, ARHGAP31, GALNT3, FAM20A, FLNB, LIFR, SLC35D1, TRIP11, RAB33B, ADAMTS10, TRPS1, DOCK6, RBPJ, PTHLH, GDF5, TRAPPC2, IGF1, MATN3, TBX3, IGF1R, DDR2, EOGT, DLX3, MMP13, SNX10, INPPL1, MAFB, MMP9, SLCO2A1, PCYT1A, NPR2, BMP2, FAM83H, WDR34, BHLHA9, IGFALS, IHH, XYLT1, LTBP3, DVL1, TBX6, ENAM, NOG, PAPSS2, ACAN, ADAMTS17, KIF22, TBX4, DLL4, EXTL3, NANS, LONP1, CKAP2L, IRS1
Specificity
1 %
Genes
50 %
|
Cartilage-hair hypoplasia.
By Bioarray in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
Metaphyseal dysplasia without hypotrichosis.
By Bioarray in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
CarrierMap.
By Recombine in United States.
FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)
View the complete list with 281 more genes
FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYRP1, STAR, SLC45A2, CHM, TYR, SLC37A4, ABCA12, HSD17B4, CPT2, TRMU, GNPTAB, GLB1, GNE, OCRL, ABCA4, CYP1B1, CEP290, CLRN1, TRIM32, USH2A, PCDH15, DLD, POLG, CYP11B1, SLC25A13, HADHA, OPA3, FH, RPE65, RLBP1, GUCY2D, SMPD1, CYP11B2, SLC26A4, CDH23, HPS1, PDHB, HPS4, HPS3, DHDDS, RS1, FAH, HMGCL, HSD3B2, FAM161A, TAT, G6PC, GAMT, RDH12, RARS2, HAX1, HADHB, CERKL, PCCB, PCCA, GLDC, AMT, LCA5, ALG6, TYMP, MPI, ETHE1, MYO7A, PUS1, OTC, PDHA1, ABCD1, HEXA, ALDH3A2, HEXB, CTSK, ACOX1, PTS, PAH, AGXT, TCIRG1, MPV17, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, NDUFS6, MMAB, MMAA, MUT, DBT, MAN2B1, MLYCD, GALC, IVD, SLC25A15, CBS, CYBA, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALK1, LRPPRC, SLC3A1, ASS1, CYP27A1, SLC22A5, SLC25A20, PMM2, BBS12, MKS1, BBS10, BBS1, BBS2, ASL, TPP1, CYP17A1, NR2E3, ADA, AGA, ARSB, IL2RG, AIRE, AR, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, GLA, IDS, IDUA, LIPA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, BRIP1, ADAMTS2, CHRNE, CLN6, CLN8, COL4A3, DOK7, HBA1, LAMB3, FKTN, MTTP, G6PD, HBA2, NEB, CTNS, CYBB, PEX2, NPHS2, PROP1, NPHS1, DCLRE1C, PPT1, PEX7, SGCA, SGCB, SERPINA1, SLC7A7, SACS, SLC26A2, SLC35A3, UGT1A1, TH, GRHPR, LAMA3, MLC1, MCOLN1, MPL, PEX1, POMGNT1, RTEL1, SGCG, SLC12A6, SLC17A5, SUMF1, TTPA, WAS, ABCC8, CAPN3, CLN5, EIF2B5, LAMC2, PHGDH, PKHD1, RAPSN, TGM1, TMEM216, GJB1, NTRK1, FKRP, DYSF, LHCGR, KCNJ11, CYP21A2, COL4A4, SLC12A3, BSND, COL4A5, MTM1, VRK1, EMD, SGCD, TSEN54, MFSD8, VPS13B, VPS13A, ATP6V1B1, MYO15A, SLC4A11, PRPS1, PEX6, LOXHD1, PEX10, CHRNG, RAB23, POR, EXOSC3, CTSC, LYST, DNAI2, DNAI1, ERCC6, TECPR2, MEFV, SRD5A2, F9, F8, FANCA, FANCG, EVC, EVC2, LPL, EIF2AK3, VSX2, RAG2, ERCC8, SLC39A4, COL7A1, CIITA, EDA, TTC37, TFR2, HOGA1, HJV, CYP19A1, AMH, AMHR2, ASNS, MED17, SEPSECS, WRN, XPA, LIFR, SLC7A9, XPC, GDF5, HGD, BCHE, SLC26A3, VPS53
Specificity
1 %
Genes
50 %
|
Cartilage-Hair Hypoplasia Dwarfism (RMRP) Targeted Testing.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
RMRP
Specificity
100 %
Genes
50 %
|
RMRP Gene Sequencing and Deletion/Duplication Analysis.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.
RMRP
Specificity
100 %
Genes
50 %
|
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL.
By Laboratorio de Genetica Clinica SL in Spain.
STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A , (...)
View the complete list with 2 more genes
STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A, CD247, IKBKB
Specificity
5 %
Genes
50 %
|
Cartilage-Hair Hypoplasia , Sequencing RMRP Gene.
By Reference Laboratory Genetics in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
Autosomal Recessive Metaphyseal Chondrodysplasia , Sequencing Regulatory Area RMRP Gene.
By Reference Laboratory Genetics in Spain.
RMRP
Specificity
100 %
Genes
50 %
|
Metaphyseal Dysplasia Related Disorders , Panel Massive Sequencing (NGS) 5 Genes.
By Reference Laboratory Genetics in Spain.
COL10A1, RMRP, PTH1R, MMP13, MMP9
Specificity
20 %
Genes
50 %
|
Bone Marrow Failure Related Disorders , Panel Massive Sequencing (NGS) 59 Genes.
By Reference Laboratory Genetics in Spain.
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26 , (...)
View the complete list with 38 more genes
BRCA2, SLC37A4, RPL35A, HAX1, AP3B1, TAZ, FANCC, RMRP, RPS19, TINF2, PALB2, BRIP1, GATA2, SBDS, RAD51C, MPL, WAS, VPS13B, GATA1, RPS26, RPS10, RPL11, RPL5, RPS17, RPS24, FANCB, DKC1, LYST, TERC, TERT, CALR, CTC1, WRAP53, NHP2, NOP10, FANCA, FANCG, FANCF, FANCE, SLX4, FANCL, FANCI, FANCD2, ERCC4, SRP72, RPS7, USB1, RAB27A, JAK2, CSF3R, ELANE, G6PC3, RPL26, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4
Specificity
2 %
Genes
50 %
|
Skeletal Dysplasias , Panel Massive Sequencing (NGS) 36 Genes.
By Reference Laboratory Genetics in Spain.
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP , (...)
View the complete list with 16 more genes
ALPL, COL2A1, COL1A1, COL1A2, FGFR3, COL10A1, RMRP, SBDS, PEX7, SLC26A2, TRPV4, HSPG2, LBR, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, PTH1R, EBP, NSDHL, COMP, SOX9, EVC, EVC2, ARSE, WISP3, NKX3-2, FLNB, LIFR, SLC35D1, TRIP11, MATN3, DDR2, MMP13, MMP9
Specificity
3 %
Genes
50 %
|
planTrue Extended.
By True Health Diagnostics in United States.
FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1 , (...)
View the complete list with 61 more genes
FMR1, ACADM, AGL, ACADVL, ALDOB, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, GAA, HBB, GNPTAB, GLB1, NPHP1, CLRN1, PCDH15, DLD, SMPD1, SLC26A4, CDH23, RS1, FAH, G6PC, MYO7A, ABCD1, HEXA, ALDH3A2, HEXB, CYP27B1, PAH, CBS, GCDH, GALT, LRPPRC, SLC22A5, PMM2, MKS1, BBS1, TPP1, AGA, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, DMD, GJB2, NPC1, RMRP, SMN1, ATM, HBA1, FKTN, HBA2, NEB, CTNS, PROP1, PPT1, SLC26A2, MCOLN1, POMGNT1, SLC17A5, TTPA, WAS, ABCC8, CLN5, PKHD1, DPYD, TMEM216, KCNJ11, CYP21A2, TNNT1, MEFV, F11, HGD
Specificity
2 %
Genes
50 %
|
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis.
By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.
HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2 , (...)
View the complete list with 116 more genes
HFE, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, TYR, SLC37A4, HSD17B4, CPT2, GNPTAB, GLB1, GNE, CYP1B1, CNGB3, CLRN1, PCDH15, DLD, PANK2, HADHA, OPA3, FH, SMPD1, SLC26A4, FAH, G6PC, MPI, HEXA, ALDH3A2, HEXB, CTSK, PAH, AGXT, CPT1A, GUSB, GALNS, NAGLU, SGSH, MMAB, MMAA, MUT, DBT, MAN2B1, GALC, IVD, CBS, PYGM, GCDH, GALT, ASS1, SLC22A5, PMM2, BBS10, BBS1, ASL, TPP1, CLN3, AGA, ARSB, AIRE, ARSA, ASPA, ELP1, CFTR, FANCC, GBA, BLM, DHCR7, GJB2, GJB6, IDUA, NPC1, NPC2, RMRP, SMN1, ATM, NBN, CLN8, LAMB3, FKTN, NEB, CTNS, NPHS2, PROP1, NPHS1, PPT1, PEX7, SGCA, SGCB, SERPINA1, SACS, SLC26A2, TH, GRHPR, LAMA3, MLC1, MCOLN1, PEX1, POMGNT1, SGCG, SLC12A6, SLC17A5, TTPA, ABCC8, CAPN3, CLN5, LAMC2, PKHD1, DPYD, TMEM216, GHRHR, CYP21A2, VPS13B, SLC19A2, CTSC, MEFV, F11, GP1BB, TTC37, GP9, WRN, WISP3, EDAR, NLRP7, LIPH, HMOX1
Specificity
1 %
Genes
50 %
|