Spondylometaphyseal Dysplasia, Corner Fracture Type

Description

Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

Genes related to Spondylometaphyseal Dysplasia, Corner Fracture Type

FN1
COL2A1

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Corner Fracture Type

Short stature
Scoliosis
Kyphosis
Pes planus
Hyperlordosis
Genu valgum
Micromelia
Recurrent fractures
Waddling gait
Tetralogy of Fallot

And another 9 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Not enough data available about incidence and published cases.

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Spondylometaphyseal Dysplasia, Corner Fracture Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Glomerulopathy with Fibronectin Deposits via the FN1 Gene. By PreventionGenetics PreventionGenetics in United States. FN1 Specificity 100 % 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 Panel GTR000559319 complete gene list 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 4 % Genes 100 %
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 Panel GTR000559381 complete gene list 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 4 % Genes 100 %
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 Panel GTR000559385 complete gene list 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 4 % Genes 100 %
Nephrotic syndrome and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...) View the complete list with 22 more genes Panel GTR000560983 complete gene list WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6, MEFV, CD2AP, DGKE, TTC21B, COQ8B, ITGA3, ITGB4, SMARCAL1, CRB2, WDR73, KANK2, MYO1E, ARHGDIA, EMP2, PTPRO, ANLN, SGPL1, NUP205, NUP93, NUP107, ARHGAP24, FN1 Specificity 3 % Genes 50 %
Nephrotic syndrome and related disorders NGS panel. By Connective Tissue Gene Tests in United States. WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...) View the complete list with 22 more genes Panel GTR000560986 complete gene list WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6, MEFV, CD2AP, DGKE, TTC21B, COQ8B, ITGA3, ITGB4, SMARCAL1, CRB2, WDR73, KANK2, MYO1E, ARHGDIA, EMP2, PTPRO, ANLN, SGPL1, NUP205, NUP93, NUP107, ARHGAP24, FN1 Specificity 3 % Genes 50 %
Nephrotic syndrome and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6 , (...) View the complete list with 22 more genes Panel GTR000560987 complete gene list WT1, PDSS2, COQ6, COQ2, CUBN, LMX1B, PAX2, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, COL4A6, MEFV, CD2AP, DGKE, TTC21B, COQ8B, ITGA3, ITGB4, SMARCAL1, CRB2, WDR73, KANK2, MYO1E, ARHGDIA, EMP2, PTPRO, ANLN, SGPL1, NUP205, NUP93, NUP107, ARHGAP24, FN1 Specificity 3 % Genes 50 %
Hereditary kidney disorders - different panels. By Institute of Human Genetics Cologne University in Germany. VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1 , (...) View the complete list with 391 more genes Panel GTR000558419 complete gene list VHL, ACAT1, ARG1, ATP7B, AUH, BCS1L, INVS, HNF1A, MMACHC, EYA1, LRP5, SLC34A1, WT1, PAX6, SDHAF2, HNF1B, RET, INPP5E, CPS1, GLB1, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, RRM2B, SLC25A13, SDHC, HADHA, FH, CYP11B2, PDSS2, COQ6, SARS2, FAH, HMGCL, CCDC28B, XPNPEP3, G6PC, CYP24A1, SDHB, SLC9A3R1, SUCLA2, IQCB1, HADHB, ALG8, COQ2, PCCB, PCCA, STRA6, OTC, XDH, MMADHC, LMBRD1, PGAM2, CUBN, AGXT, CA2, MMAB, MMAA, MUT, SUCLG1, CBS, PYGM, ETFB, ETFA, ETFDH, GCDH, GALT, FASTKD2, COX6B1, SLC3A1, ASS1, SLC22A5, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ASL, ALMS1, CYP17A1, TMEM127, LMX1B, MEN1, PAX2, TACO1, SDHA, ABCD4, APRT, DHCR7, GLA, HRAS, NPC1, VDR, TSC2, TSC1, NF2, SDHD, FLCN, MET, MAX, SBDS, PRKAR1A, CDC73, RAD51C, COL4A3, CTNS, PEX2, NPHS2, NPHS1, PEX7, SLC7A7, GRHPR, MPL, PEX1, PKHD1, TMEM216, WNK1, AHI1, ATXN10, NF1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, SLC12A3, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, KCNA1, CACNA1H, SCARB2, TBC1D24, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CACNA1D, DCDC2, SIX5, PRPS1, SIX1, GATA3, MYH9, PEX6, TMEM231, KIAA0586, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX5, KAT6B, WDR35, CLCNKA, MVK, SOX18, PTH1R, AGTR2, MAGT1, TNXB, KCNJ5, POC1B, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, PGK1, MEFV, ACE, SALL4, JAK3, CD2AP, CFB, CFI, CFH, CFHR5, CD46, C3, THBD, GNAS, NR3C2, CFHR1, CFHR3, DGKE, ADAMTS13, APOL1, CDKN1B, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, EVC, EVC2, PIK3CA, COX10, IFT122, PCBD1, APOA1, GREM1, B9D2, LCAT, SLC2A2, GLIS3, EIF2AK3, FGA, VPS33B, FREM1, BMP4, IKZF1, TNFRSF13B, COQ8B, SLC4A1, ATP6V0A4, RBM8A, LRBA, ITGA3, NFKB2, SMARCAL1, CD19, CR2, CD81, HOGA1, ICOS, TNFRSF13C, PRKCSH, MS4A1, NOTCH2, TCTN3, IFT74, IFT172, KIAA0556, CEP104, CEP120, KIF14, PDE6D, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, CCNQ, FRAS1, NEK1, WDR60, LRP4, CFHR4, CRB2, MUC1, REN, LRP2, STX16, GCM2, ENPP1, CLCN5, SLC34A3, DMP1, DICER1, SERAC1, SLC6A19, COA5, APOPT1, WDR73, LAMC1, KANK2, MYO1E, GALNT3, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, LIFR, EIF2AK4, SLC2A9, SEC63, PEX11B, SEC61A1, GANAB, SLC7A9, FXYD2, SLC5A2, UROD, KL, TRPM6, HMBS, SLC26A3, LRIG2, DIS3L2, GUCY2C, NFKB1, IL21, LYZ, HPSE2, TALDO1, CNNM2, EGF, SOX17, AGT, ARHGDIA, MAFB, ROBO2, BICC1, SLC16A12, CHRM3, WDR34, EMP2, PTPRO, ITGA8, FGF20, ANLN, EHHADH, ALAD, KANK1, TBX18, CFHR2, AGTR1, UPK3A, TRAP1, LAMA5, SGPL1, XPO5, KANK4, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, BMP7, CDC5L, CHD1L, DSTYK, FAN1, FN1, PDE3A, SLC26A1, MOCOS, MAPKBP1, RMND1, IFT52, DYNC2LI1, MAGED2, NRIP1, KCNMB1, SLC22A10, SLC36A2, SLC41A1, TBC1D1, MAGEC1, SLC6A20, KANK3, TMEM260, CLDN10 Specificity 1 % Genes 50 %
FN1. By Fulgent Genetics Fulgent Genetics in United States. FN1 Specificity 100 % Genes 50 %
KidneySeq - 264 Genes. By Iowa Institute of Human Genetics University of Iowa in United States. TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290 , (...) View the complete list with 232 more genes Panel GTR000528276 complete gene list TTR, VHL, ATP7B, INVS, EYA1, SLC34A1, WT1, HNF1B, RET, INPP5E, CC2D2A, OCRL, JAG1, HPRT1, TMEM67, ARL6, NPHP3, NPHP1, MKKS, CEP290, TTC8, TRIM32, NPHP4, CYP11B1, PDSS2, COQ6, C8orf37, SARS2, FAH, XPNPEP3, CYP24A1, SLC9A3R1, IQCB1, ALG1, COQ2, XDH, CUBN, AGXT, CA2, SLC3A1, PMM2, BBS7, BBS5, BBS12, MKS1, BBS9, BBS10, BBS4, BBS1, BBS2, ALMS1, LMX1B, PAX2, GSN, APRT, CHD7, CREBBP, DHCR7, GLA, VDR, TSC2, TSC1, GPC3, COL4A3, CTNS, NPHS2, NPHS1, GRHPR, SLC17A5, PKHD1, TMEM216, LMNA, WNK1, APOE, AHI1, ATXN10, FGFR1, CASR, ANOS1, HSD11B2, HNF4A, INF2, UMOD, COL4A4, LAMB2, AVPR2, AQP2, PHEX, ACTN4, SCNN1A, SCNN1G, SCNN1B, BSND, PLCE1, CLCNKB, TRPC6, KCNJ1, SLC12A1, COL4A5, PKD2, PKD1, FGF23, CACNA1H, SCARB2, COL4A1, KCNJ10, OFD1, SALL1, ATP6V1B1, CD151, CACNA1D, COL4A6, NLRP3, SIX5, SIX1, GATA3, MYH9, SEMA3E, FOXP1, WDR35, CLCNKA, TNXB, GLI3, KCNJ5, DHTKD1, IFT140, SLC4A4, WDR19, LZTFL1, IFT27, BBIP1, WDPCP, SDCCAG8, ZMPSTE24, MEFV, SALL4, CD2AP, CFI, NR3C2, DGKE, APOL1, KLHL3, B9D1, TTC21B, TMEM237, TMEM138, TCTN2, TCTN1, RPGRIP1L, NEK8, KIF7, IFT43, CEP41, CPLANE1, IFT80, GLIS2, ARL13B, IFT122, APOA1, GREM1, B9D2, SLC2A2, FGA, VPS33B, VIPAS39, FREM1, BMP4, COQ8B, SLC4A1, ATP6V0A4, ITGA3, ITGB4, TNFRSF1A, SMARCAL1, HOGA1, NOTCH2, TCTN3, C2CD3, IFT74, IFT172, TMEM107, KIF14, CSPP1, CEP164, ZNF423, CEP83, ANKS6, DYNC2H1, GRIP1, FREM2, WNT4, NEK1, CRB2, ENPP1, CLCN5, SLC34A3, DMP1, SRGAP1, WDR73, B2M, GDNF, MYO1E, CUL3, WNK4, CLDN16, CLDN19, SLC22A12, SLC2A9, SLC7A9, FXYD2, SLC5A2, SLC5A1, TRPM6, LYZ, CNNM2, EGF, SOX17, ARHGDIA, ROBO2, PBX1, EMP2, PTPRO, ITGA8, KCTD1, FGF20, ANLN, EHHADH, TBX18, AGTR1, UPK3A, TRAP1, SGPL1, XPO5, FAT1, NUP205, NUP93, NUP107, ARHGAP24, SIX2, CHD1L, DSTYK, FAN1, FN1, ADCY10, MAGED2, SLC41A1, DACH1, E2F3, DLC1, KIF12, SLIT2, DLG1 Specificity 1 % Genes 50 %
Nephrotic Syndrome Panel. By Blueprint Genetics in Finland. WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B , (...) View the complete list with 16 more genes Panel GTR000552696 complete gene list WT1, COQ2, LMX1B, COL4A3, NPHS2, NPHS1, INF2, COL4A4, LAMB2, ACTN4, PLCE1, TRPC6, COL4A5, SCARB2, MAGI2, MYH9, CD2AP, DGKE, APOL1, TTC21B, COQ8B, ITGA3, SMARCAL1, CRB2, WDR73, MYO1E, ARHGDIA, MAFB, EMP2, PTPRO, ANLN, SGPL1, NUP107, ARHGAP24, FAN1, FN1 Specificity 3 % Genes 50 %
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 Panel GTR000508280 complete gene list 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 50 %
COL2A1 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Sequence Analysis. By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
COL2A1 Sequence Analysis (Familial Mutation/Variant Analysis). By Baylor Miraca Genetics Laboratories in United States. COL2A1 Specificity 100 % Genes 50 %
Hearing Loss Advanced Sequencing and CNV Evaluation. By Athena Diagnostics Inc in United States. ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...) View the complete list with 151 more genes Panel GTR000560763 complete gene list ABHD12, USH1G, USH1C, ANKH, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, KARS, CISD2, MYO7A, TIMM8A, AIFM1, MANBA, ALMS1, SLC22A4, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, PMP22, FGFR1, COL4A4, BSND, SLC12A1, COL4A5, TBC1D24, NR2F1, KCNJ10, TBX1, SALL1, ACTB, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, ERCC2, ERCC3, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRA, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, SLC4A11, MT-TS1, MT-TS2, TECTA, TMPRSS3, RIPOR2, CEMIP, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2 Specificity 1 % Genes 50 %
Non-immune Hydrops Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA , (...) View the complete list with 67 more genes Panel GTR000522580 complete gene list COL2A1, GNPTAB, GLB1, HADHA, RAF1, SMPD1, RPL35A, HADHB, ALG9, ALG1, CTSA, GUSB, GALNS, GBE1, PMM2, FGFR3, GBA, BRAF, DHCR7, GLA, HRAS, IDUA, KRAS, LIPA, MAP2K1, NPC1, NRAS, PTPN11, RPS19, SHOC2, SOS1, SOS2, RIT1, MAP2K2, CBL, G6PD, PEX1, SLC17A5, SUMF1, CLCNKB, CHRNA1, CHRND, ASAH1, KMT2D, PIGA, LBR, PEX6, MID1, FOXC2, PIEZO1, LZTR1, KIAA0586, FAT4, KIF23, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, KAT6B, WDR35, GATA1, KLF1, RPS26, RPS10, CLCNKA, RPL11, RPL5, RPS17, RPS24, MVK, RASA1, SOX18, FOXP3, PKLR, UROS, NEU1, CHRNG, CANT1, CCBE1, CDAN1, SEC23B, PTH1R Specificity 2 % Genes 50 %
NGS Skeletal Dysplasia Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, TRPV4, HSPG2, FLNA, COMP, SOX9 Specificity 10 % Genes 50 %
Lysosomal Storage Disease Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH , (...) View the complete list with 55 more genes Panel GTR000525130 complete gene list GAA, COL2A1, PSAP, GNPTAB, GLB1, GNE, SMPD1, CTSD, HEXA, GM2A, HEXB, PHYH, CTSK, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MANBA, MAN2B1, GALC, TPP1, CLN3, AGA, ARSB, ARSA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, GPC3, CLN6, CLN8, CTNS, PEX2, PPT1, MCOLN1, PEX1, SLC17A5, SUMF1, CLN5, ASAH1, DNAJC5, MFSD8, ATP13A2, KMT2D, TCF4, COL11A2, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, LAMP2, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM Specificity 2 % Genes 50 %
NGS Connective Tissue Disorders Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States. ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3 , (...) View the complete list with 15 more genes Panel GTR000525132 complete gene list ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, ACVR1 Specificity 3 % Genes 50 %
Stickler Syndrome Types 1, 2, and 3 (COL2A1, COL11A1, COL11A2). By Center for Human Genetics, Inc in United States. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
Kniest Dysplasia. By Center for Human Genetics, Inc in United States. COL2A1 Specificity 100 % Genes 50 %
Connective Tissue Disorders 22-gene panel. By Center for Human Genetics, Inc in United States. COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1 , (...) View the complete list with 2 more genes Panel GTR000529183 complete gene list COL2A1, COL1A1, COL1A2, COL3A1, FBN1, COL5A1, COL5A2, FLNA, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, MYH11, PRKG1, TGFBR3, NTM Specificity 5 % Genes 50 %
OtoSCOPE. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics in United States. USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS , (...) View the complete list with 132 more genes Panel GTR000323596 complete gene list USH1G, USH1C, TWNK, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, OPA1, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ALMS1, SLC22A4, GJB2, GJB6, POU3F4, FGFR2, MET, COL4A3, PEX1, MT-TL1, FGFR1, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, TBX1, ACTG1, ADCY1, BDP1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, TCOF1, MT-TS1, TECTA, TMPRSS3, RIPOR2, LARS2, MCM2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, ATP2B2, CD164, CDC14A, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, ROR1, SLC26A5, S1PR2, TJP2, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, MT-RNR1, GPSM2, CATSPER2, MITF, CRYL1, KITLG, LOXL3 Specificity 1 % Genes 50 %
Hearing Loss Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN , (...) View the complete list with 102 more genes Panel GTR000528548 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, FOXC1, PITX2, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, CISD2, MYO7A, TIMM8A, ABHD5, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B1, CIB2, CACNA1D, COCH, CLDN14, CCDC50, COL9A1, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, NLRP3, DIAPH1, DNMT1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TMIE, TRIOBP, LOXHD1, GRXCR1, TPRN, DIAPH3, CEACAM16, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, DTD1, MYO1A, MASP1 Specificity 1 % Genes 50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes). By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522271 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 50 %
Skeletal Dysplasia Panel, Sequencing (39 Genes) and Deletion/Duplication (36 Genes), Fetal. By ARUP Laboratories, Molecular Genetics and Genomics in United States. ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35 , (...) View the complete list with 19 more genes Panel GTR000522272 complete gene list ALPL, FKBP10, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, PPIB, FGFR3, RUNX2, FGFR2, PEX7, SLC26A2, TRPV4, FGFR1, HSPG2, FLNA, LBR, WDR35, EBP, POR, COMP, SOX9, WDR19, GNPAT, SERPINH1, TTC21B, IFT80, EVC, EVC2, DYNC2H1, NEK1, ARSE, DLL3, FLNB, LIFR, SLC35D1, TRIP11 Specificity 3 % Genes 50 %
Connective Tissue Disorders Panel. By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center in United States. ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA , (...) View the complete list with 30 more genes Panel GTR000327667 complete gene list ATP7A, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, PKD2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, MED12, ADAMTSL2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, EFEMP2, LTBP4, TGFB3, PRKG1, SMAD2, ADAMTS10 Specificity 2 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1, FGFR3, SLC26A2, COL1A2, COL1A1, CRTAP, SOX9, ALPL, LEPRE1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. ALPL, COL2A1, COL1A1, COL1A2, CRTAP, FGFR3, SLC26A2, SOX9 Specificity 13 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL11A1, COL11A2, COL2A1. NextGeneDx.Complete sequencing by NGS. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
COL2A1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1. MLPA testing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
COL2A1. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Stickler syndrome Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Stickler Syndrome Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Audiome (hearing loss panel). By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States. ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2 , (...) View the complete list with 86 more genes Panel GTR000553458 complete gene list ABHD12, USH1G, USH1C, BCS1L, EYA1, COL2A1, PDZD7, EYA4, HSD17B4, WFS1, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MSRB3, SUCLA2, CISD2, MYO7A, TIMM8A, ALMS1, HARS2, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, ATP6V1B2, ATP6V1B1, CIB2, CABP2, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, COL9A2, COL11A1, COL11A2, ILDR1, OTOF, PJVK, OSBPL2, MARVELD2, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC4A11, TECTA, TMPRSS3, LARS2, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, LRTOMT, LHFPL5, MYH9, OTOA, POU4F3, S1PR2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, CEACAM16, OTOGL, SYNE4, GRXCR2, GPSM2, MITF, SLC52A2, SLC52A3 Specificity 1 % Genes 50 %
Type II Collagenopathies. By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
COL2A1-related Stickler syndrome. By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis type 2 (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Kniest Dysplasia (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal Dysplasia Congenita (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia multiple (sequence analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Syndromic deafness (NGS panel for 62 genes). By CGC Genetics in Portugal. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...) View the complete list with 42 more genes Panel GTR000523375 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF Specificity 2 % Genes 50 %
Epiphyseal dysplasia multiple (NGS panel for 7 gene). By CGC Genetics in Portugal. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Syndromic and non syndromic deafness (NGS panel for 127 genes). By CGC Genetics in Portugal. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3 , (...) View the complete list with 107 more genes Panel GTR000523804 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, EYA4, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, GJB2, GJB6, POU3F4, CDKN1C, COL4A3, COL4A4, BSND, SLC12A1, COL4A5, KCNJ10, ACTG1, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, HGF, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, MARVELD2, POLR1C, NLRP3, OTOG, DIAPH1, PAX3, EDNRB, KCNQ4, ESPN, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, PRPS1, KCNE1, KCNQ1, PTPRQ, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, POU4F3, SEMA3E, SLC26A5, TJP2, TFAP2A, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, GPSM2, MITF, MYO1A, TMC2 Specificity 1 % 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 Panel GTR000523894 complete gene list 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 %
Stickler syndrome (NGS panel for 5 genes). By CGC Genetics in Portugal. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Stickler syndrome type 1 (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (deletion/duplication analysis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Mild spondyloepiphyseal dysplasia with early-onset osteoarthritis (sequence analyis of COL2A1 gene). By CGC Genetics in Portugal. COL2A1 Specificity 100 % Genes 50 %
Comprehensive Vitreoretinopathy Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. LRP5, COL2A1, ATP6V0A2, NDP, TSPAN12, FZD4, ISPD, CTNNB1, ZNF408, KIF11, RCBTB1, VCAN, ATOH7, CAPN5 Specificity 8 % Genes 50 %
Multiple Epiphyseal Dysplasia Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Stickler Syndrome Sequencing Panel. By PreventionGenetics PreventionGenetics in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, LRP2, VCAN Specificity 12 % Genes 50 %
Congenital Limb Malformation Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL , (...) View the complete list with 49 more genes Panel GTR000560062 complete gene list BRCA2, RECQL4, COL2A1, CC2D2A, CEP290, SHH, DHODH, MKS1, FGFR3, FGFR2, NIPBL, PALB2, BRIP1, RAD51C, FIG4, FLNA, PIGV, SALL1, CHSY1, NSDHL, SOX9, DYM, NOTCH1, GLI3, TP63, CDH3, BMPR1B, PITX1, FGF10, SALL4, TBX5, GNAS, FANCA, FANCG, FANCF, FANCE, SLX4, FANCM, FANCL, FANCI, FANCD2, ERCC4, THPO, RPGRIP1L, KIF7, MYCN, GREM1, RBM8A, MGP, ESCO2, ROR2, TBX15, WNT7A, LRP4, SF3B4, HOXD13, ARHGAP31, DOCK6, GDF5, HDAC4, TBX3, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1 Specificity 2 % Genes 50 %
COL2A1-Related Disorders via the COL2A1 Gene. By PreventionGenetics PreventionGenetics in United States. COL2A1 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 Panel GTR000558369 complete gene list 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 %
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 Panel GTR000552334 complete gene list 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 50 %
Achondrogenesis Deletion/ Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, TRIP11 Specificity 34 % Genes 50 %
Achondrogenesis NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, TRIP11 Specificity 34 % Genes 50 %
Achondrogenesis Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, TRIP11 Specificity 34 % Genes 50 %
Cleft lip, cleft palate and related disorders NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Cleft lip, cleft palate and related disorders Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, SATB2, BMP4, IRF6, FOXE1, GRHL3, MSX1, NECTIN1, TGDS, SUMO1, TBX22 Specificity 6 % Genes 50 %
Multiple epiphyseal dysplasia (MED) Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3 Specificity 13 % Genes 50 %
Multiple epiphyseal dysplasia (MED) NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, CANT1, COMP, MATN3 Specificity 13 % Genes 50 %
Multiple epiphyseal dysplasia (MED) Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Stickler syndrome Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN Specificity 13 % Genes 50 %
Vitreoretinopathy Comprehensive panel. By Connective Tissue Gene Tests in United States. BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5 Specificity 6 % 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 Panel GTR000559336 complete gene list 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 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 Panel GTR000559351 complete gene list 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 %
Vitreoretinopathy Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5 Specificity 6 % Genes 50 %
Skeletal dysplasia core Comprehensive panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1 Specificity 10 % Genes 50 %
Skeletal dysplasia core NGS panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1 Specificity 10 % Genes 50 %
Stickler syndrome core Comprehensive panel. By Connective Tissue Gene Tests in United States. COL2A1, COL11A1, COL11A2 Specificity 34 % 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 Panel GTR000559386 complete gene list 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 %
Stickler syndrome Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN Specificity 13 % Genes 50 %
Stickler syndrome NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LOXL3, VCAN Specificity 13 % Genes 50 %
Stickler syndrome core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
Vitreoretinopathy NGS panel. By Connective Tissue Gene Tests in United States. BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5 Specificity 6 % Genes 50 %
Stickler syndrome core NGS panel. By Connective Tissue Gene Tests in United States. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
Skeletal dysplasia core Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. ALPL, COL2A1, COL1A1, COL1A2, FGFR3, SLC26A2, SOX9, NKX3-2, TRIP11, INPPL1 Specificity 10 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Comprehensive Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia, Torrance type. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication Test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type NGS test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia, Strudwick type Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Comprehensive test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita Deletion / Duplication test. By Connective Tissue Gene Tests in United States. COL2A1 Specificity 100 % Genes 50 %
Cataract. By MGZ Medical Genetics Center in Germany. EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1 , (...) View the complete list with 45 more genes Panel GTR000521132 complete gene list EYA1, COL2A1, PAX6, ABCB6, WFS1, FOXC1, PITX2, NHS, CRYAB, OPA3, FYCO1, GJA3, GALK1, CYP27A1, SIX6, GLA, SLC33A1, SIL1, COL4A1, RAB3GAP1, ERCC2, COL11A1, MYH9, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, FTL, RAB18, VSX2, CRYBA4, EPG5, TBC1D20, COL18A1, ERCC5, FAM126A, COL4A2, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, CRYGS, MIR184, JAM3, TMEM114 Specificity 2 % Genes 50 %
Ectopia Lentis. By MGZ Medical Genetics Center in Germany. COL2A1, FBN1, CBS, COL11A1, COL18A1, ADAMTSL4, ADAMTS10, ASPH, VCAN, ADAMTS17 Specificity 10 % Genes 50 %
COL2A1-Related Stickler Syndrome. By MGZ Medical Genetics Center in Germany. COL2A1 Specificity 100 % Genes 50 %
Eye Diseases - panels. By MGZ Medical Genetics Center in Germany. C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1 , (...) View the complete list with 147 more genes Panel GTR000552433 complete gene list C12orf65, FOXL2, RAX, TYRP1, EYA1, LRP5, COL2A1, COL3A1, OCA2, VSX1, SLC45A2, PAX6, ZEB1, TGFBI, TUBB3, TYR, GPR143, OPA1, ABCB6, WFS1, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, NHS, SHH, MFN2, CRYAB, OPA3, FBN1, MTPAP, FYCO1, TMEM126A, PHOX2A, GJA3, STRA6, FRMD7, HCCS, BCOR, CBS, GALK1, CYP27A1, SIX6, CYP4V2, SOX2, HESX1, MYOC, KIF21A, FZD4, COL5A1, COL5A2, KRT3, PAX2, GSN, CHD7, GLA, ADAMTS2, SLC33A1, SIL1, COL4A1, RAB3GAP1, SIX3, TUBB2B, TREX1, VPS13B, ACTB, ACTG1, COL9A1, COL9A3, ERCC2, COL9A2, COL11A1, COL11A2, SLC4A11, MYH9, TFAP2A, TGIF1, ZIC2, PRDM5, ZNF469, GDF6, SLC24A5, LRMDA, CHST6, MAF, FOXE3, LTBP2, ERCC6, RAB3GAP2, CTDP1, GJA1, FTL, RAB18, RARB, VAX1, VSX2, CRYBA4, BMP4, GDF3, PRSS56, TENM3, ALDH1A3, B3GLCT, COL17A1, EPG5, TBC1D20, GRIP1, FREM2, FRAS1, LRP2, C12orf57, COL18A1, ERCC5, COL8A2, DCN, PIKFYVE, UBIAD1, TACSTD2, ADAMTSL4, FAM126A, ADAMTS10, COL4A2, ASPH, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, VCAN, ATOH7, ERCC1, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, CRYGB, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, MAB21L2, SMOC1, SLC38A8, MIR184, HMX1, BMP7, AGBL1, ADAMTS17, JAM3, NDUFB11, TMEM114, SALL2, SIPA1L3, TMEM98, OVOL2 Specificity 1 % Genes 50 %
Stickler Syndrome / High Myopia. By MGZ Medical Genetics Center in Germany. COL2A1, FBN1, COL5A1, COL5A2, COL9A1, COL9A3, COL9A2, COL11A1, COL18A1, VCAN, P3H2 Specificity 10 % Genes 50 %
COL2A1-Related Stickler Syndrome. By Bioscientia GmbH Center for Human Genetics in Germany. COL2A1 Specificity 100 % Genes 50 %
Type II Collagenopathies. By Bioscientia GmbH Center for Human Genetics in Germany. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy and Wagner syndrome panel. By Centogene AG - the Rare Disease Company in Germany. LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN Specificity 17 % Genes 50 %
Stickler syndrome type 1. By Centogene AG - the Rare Disease Company in Germany. COL2A1 Specificity 100 % Genes 50 %
Stickler Syndrome. By bio.logis Center for Human Genetics Diagnosticum in Germany. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
COL2A1 related disorders. By bio.logis Center for Human Genetics Diagnosticum in Germany. COL2A1 Specificity 100 % Genes 50 %
Syndromic Hearing Loss Panel. By CeGaT GmbH in Germany. ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA , (...) View the complete list with 42 more genes Panel GTR000522364 complete gene list ABHD12, USH1G, USH1C, ANKH, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MYO7A, TIMM8A, MANBA, ALMS1, CHD7, CDKN1C, COL4A3, COL4A4, BSND, COL4A5, KCNJ10, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, SEMA3E, TFAP2A, POLR1D, MITF Specificity 2 % Genes 50 %
Stickler Syndrome Panel. By CeGaT GmbH in Germany. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Stickler Syndrome Panel. By CeGaT GmbH in Germany. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Familial Exudative Vitreoretinopathy and Wagner syndrome Panel. By CeGaT GmbH in Germany. LRP5, COL2A1, NDP, TSPAN12, FZD4, ZNF408, VCAN, CAPN5 Specificity 13 % Genes 50 %
Single gene testing COL2A1. By CeGaT GmbH in Germany. COL2A1 Specificity 100 % Genes 50 %
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 Panel GTR000527951 complete gene list 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 4 % Genes 50 %
Multiple epiphyseal dysplasia and pseudoachondroplasia Panel. By CeGaT GmbH in Germany. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, PTH1R, COMP, MATN3 Specificity 13 % Genes 50 %
Potentially lethal skeletal disorders Panel. By CeGaT GmbH in Germany. ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...) View the complete list with 24 more genes Panel GTR000527958 complete gene list ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2, CANT1, PTH1R, EBP, NSDHL, SOX9, GLI3, GNPAT, IFT80, TCTN3, DYNC2H1, WNT7A, NEK1, ARSE, BMPER, RNU4ATAC, FAM111A, DLL3, FLNB, LIFR, SLC35D1, TRIP11, GDF5, INPPL1, WDR34 Specificity 3 % Genes 50 %
Skeletal Dysplasia. By Asper Biogene Asper Biogene LLC in Estonia. ALPL, COL2A1, FGFR3, FGFR2, SLC26A2, SOX9, WNT5A, ESCO2, ROR2, TRIP11 Specificity 10 % Genes 50 %
Stickler Syndrome. By Asper Biogene Asper Biogene LLC in Estonia. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2 Specificity 17 % Genes 50 %
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 Panel GTR000553865 complete gene list 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 50 %
Vitreoretinopathy. By Asper Biogene Asper Biogene LLC in Estonia. BEST1, LRP5, COL2A1, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, CAPN5, NDP-AS1 Specificity 6 % Genes 50 %
Stickler syndrome gene panel. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
COL2A1 screening. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL2A1 Specificity 100 % Genes 50 %
COL2A1 mutational analysis. By Connective Tissue Laboratory Ghent University Hospital in Belgium. COL2A1 Specificity 100 % Genes 50 %
Type II collagenopathies, collagen type 2 alpha 1, COL2A1 sequencing. By Molecular Diagnostics Laboratory Seoul National University Hospital in South Korea. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy panel. By Molecular Vision Laboratory in United States. LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A1, COL11A2, ZNF408, KIF11, COL18A1, VCAN, ATOH7, CAPN5 Specificity 6 % Genes 50 %
Achondrogenesis, type II or hypochondrogenesis. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and deafness. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Legg-Calve-Perthes disease. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic skeletal dysplasia, Torrance type. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
SED congenita. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
SMED Strudwick type. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I, nonsyndromic ocular. By Praxis fuer Humangenetik Wien in Austria. COL2A1 Specificity 100 % Genes 50 %
qChip. By Quantitative Genomic Medicine Laboratories, SL in Spain. FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP , (...) View the complete list with 106 more genes Panel GTR000521292 complete gene list FMR1, UBE3A, APC, PTEN, TP53, FOXL2, EYA1, COL2A1, OCA2, APP, WT1, PAX6, RB1, LEMD3, HNF1B, ELN, OCRL, PITX2, JAG1, NDP, NPHP1, CEP290, SHH, MECP2, FBN1, RS1, OTC, HCCS, GK, TIMM8A, SOX2, LMX1B, ARX, BRAF, CDKL5, CHD7, DHCR7, KRAS, MAP2K1, PLP1, PTPN11, RAI1, RUNX2, SOS1, SRY, MAP2K2, TSC2, SMC1A, NIPBL, NSD1, PTCH1, NF2, BMPR1A, SMAD4, BTK, PMP22, SCN1A, MAPT, AHI1, NF1, NR0B1, SHOX, CASR, ANOS1, SLC12A3, BSND, CLCNKB, KCNJ1, SLC12A1, COL4A5, PKD1, DCX, EMX2, SIX3, RELN, PAFAH1B1, ADGRG1, OFD1, PAK3, ZEB2, SHANK3, SALL1, PAX3, GATA3, EHMT1, CLCNKA, SOX3, IL1RAPL1, TWIST1, SOX9, TGIF1, ZIC2, TGFBR1, TGFBR2, GLI3, SNRPN, MITF, TP63, NKX2-5, SH2D1A, NR5A1, LHX4, SALL4, TBX5, EP300, SATB2, VEGFA, ZIC3, GATA4, MYCN, DISP1, SIM1, MNX1, IRF6, MID2, LMNB1, HOXD13, STS, TRPS1, HDAC4, TBX3, FBXW11, TRAPPC10, CBFB, IGF2, SEM1 Specificity 1 % Genes 50 %
qGenEx Craniofacial Anomalies. By Quantitative Genomic Medicine Laboratories, SL in Spain. RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3 , (...) View the complete list with 116 more genes Panel GTR000552865 complete gene list RECQL4, EYA1, COL2A1, PAX6, FOXC1, PITX2, OTX2, SHH, DHODH, BCOR, CTSK, FGFR3, CHD7, GJB6, IKBKG, PORCN, RUNX2, FGFR2, RAD21, SMC3, SMC1A, NIPBL, NSD1, PTCH1, FGFR1, FGF8, SIX3, KMT2D, ANKRD11, OFD1, FGD1, ZEB2, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, DSPP, POLR1C, PAX3, SNAI2, SOX10, TCOF1, SIX1, FGF3, SEMA3E, TFAP2A, POLR1D, MID1, MED12, KAT6B, WDR35, PTH1R, NAA10, RAB23, MSX2, TWIST1, TGIF1, ZIC2, CDON, GLI2, TGFBR1, TGFBR2, SKI, EZH2, GLI3, MITF, TP63, KDM6A, GDF6, WDR19, FGF10, ALX4, SALL4, EFNB1, EFTUD2, GNAI3, SH3BP2, GJA1, SATB2, MASP1, IFT43, DISP1, IL11RA, IFT122, VAX1, ALX1, BMP4, GDF3, AXIN2, NFKBIA, CDSN, EDA, IRF6, SPECC1L, LRP2, CDC45, MEGF8, ERF, TCF12, ALX3, FOXE1, SF3B4, EDAR, WNT10A, ADAMTSL4, EDARADD, AMELX, MEOX1, EDN1, PLCB4, DLX3, GRHL3, FAM83H, MSX1, PAX9, LRP6, LTBP3, ENAM, NECTIN1, KLK4, MMP20, ODAPH, NOG, WDR72, SMOC2, KDM1A, SUMO1, TBX22, DLX4, EIF4A3, TSHZ1, HOXA2, PAX7, UBB Specificity 1 % Genes 50 %
Achondrogenesis, type II or hypochondrogenesis. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and deafness. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Legg-Calve-Perthes disease. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic skeletal dysplasia, Torrance type. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
SED congenita. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
SMED Strudwick type. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Stickler sydrome, type I, nonsyndromic ocular. By MedGene in Slovakia. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis type 2: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I: COL2A1 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1 Specificity 100 % Genes 50 %
Multiple epiphyseal dysplasia. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Stickler syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2 Specificity 17 % 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 Panel GTR000531666 complete gene list 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 %
Vitreoretinopathy and Wagner syndrome. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN Specificity 17 % Genes 50 %
NGS panel - Stickler syndrome and related disorders. By Genome Diagnostics VU University Medical Center in Netherlands. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, VCAN Specificity 13 % Genes 50 %
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 Panel GTR000512373 complete gene list 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 50 %
Stickler Syndrome: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Vitreoretinopathy: Sequencing and Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. LRP5, COL2A1, NDP, KCNJ13, TSPAN12, FZD4, COL9A1, COL11A1, VCAN Specificity 12 % Genes 50 %
Multiple Epiphyseal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Connective Tissue Disorders: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...) View the complete list with 9 more genes Panel GTR000512594 complete gene list FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, FKBP14, PRDM5, CHST14, ZNF469, ACVR1 Specificity 4 % Genes 50 %
Disproportionate Short Stature: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5 , (...) View the complete list with 65 more genes Panel GTR000512595 complete gene list ANKH, COL2A1, COL1A1, FBN1, SLC39A13, AGPS, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, EBP, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, ARSE, CUL7, OBSL1, TBCE, MESP2, HES7, LFNG, GPC6, CHST3, NKX3-2, DLL3, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, TBX6, PAPSS2, ACAN, KIF22, SULF1 Specificity 2 % Genes 50 %
Hearing Loss: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO , (...) View the complete list with 111 more genes Panel GTR000512601 complete gene list ABHD12, USH1G, USH1C, BTD, EYA1, COL2A1, EYA4, HSD17B4, OPA1, WFS1, FOXC1, PITX2, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, DIABLO, MSRB3, KARS, CISD2, MYO7A, TIMM8A, AIFM1, ABHD5, ALMS1, HARS2, ARSB, FGFR3, CHD7, GJB2, GJB6, POU3F4, COL4A3, COL4A4, BSND, COL4A5, TBC1D24, KCNJ10, SALL1, ACTG1, ADCY1, ATP6V1B1, CIB2, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, CLIC5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOMER2, COL4A6, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, P2RX2, SIX5, SLC17A8, SERPINB6, SOX10, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TMC1, GSDME, ESRRB, FGF3, FOXI1, GJB3, LRTOMT, LHFPL5, MYH14, MYH9, OTOA, SLC26A5, TJP2, TMIE, TRIOBP, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, CEACAM16, OTOGL, TMEM132E, ELMOD3, SYNE4, GRXCR2, RPS6KA3, MT-RNR1, GPSM2, MITF, SALL4, SLC29A3, MYO1A, MASP1 Specificity 1 % Genes 50 %
Skeletal Dysplasia: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 143 more genes Panel GTR000512649 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, SHOX, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, TCTN3, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 1 % Genes 50 %
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 Panel GTR000523294 complete gene list 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 50 %
Connective Tissue Disorders: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...) View the complete list with 9 more genes Panel GTR000558816 complete gene list FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, FKBP14, PRDM5, CHST14, ZNF469, ACVR1 Specificity 4 % Genes 50 %
Disproportionate Short Stature: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2 , (...) View the complete list with 56 more genes Panel GTR000558820 complete gene list ANKH, COL2A1, COL1A1, FBN1, SLC39A13, CTSK, FAM20C, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, CDKN1C, PRKAR1A, SLC26A2, TRPV4, FGFR1, SHOX, ANO5, HSPG2, FLNA, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, IFT140, SH3PXD2B, BMPR1B, IFT80, EVC, EVC2, B3GALT6, IFT122, EIF2AK3, DHCR24, EXT2, EXT1, SMARCAL1, TCTN3, WNT5A, DYNC2H1, ROR2, ICK, NEK1, CUL7, OBSL1, TBCE, GPC6, CHST3, NKX3-2, ACP5, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, GDF5, MATN3, DDR2, MMP13, MMP9, NPR2, IHH, PAPSS2, KIF22, SULF1 Specificity 2 % Genes 50 %
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 Panel GTR000559618 complete gene list 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 50 %
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 Panel GTR000506412 complete gene list 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 50 %
Connective Tissue NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1 , (...) View the complete list with 11 more genes Panel GTR000509372 complete gene list FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, PKD2, COL4A1, COL11A1, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, FKBP14, PRDM5, CHST14, ABCC6, ZNF469, ACVR1 Specificity 4 % Genes 50 %
Lysosomal Disorders NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A , (...) View the complete list with 86 more genes Panel GTR000509436 complete gene list ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GCSH, GLDC, AMT, LMBRD1, HEXA, GM2A, SUOX, ALDH5A1, HEXB, PHYH, ALDH7A1, CTSK, QDPR, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, MANBA, MAN2B1, GALC, ALDH4A1, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, TPP1, CLN3, AGA, ARSB, HPD, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, GPC3, CLN6, CLN8, CTNS, PPT1, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LAMA2, FOLR1, ASAH1, DNAJC5, MFSD8, ATP13A2, TCF4, COL11A2, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, LAMP2, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, PGK1, SLC46A1, ACY1 Specificity 1 % Genes 50 %
Vitreoretinopathy and Wagner Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. LRP5, COL2A1, NDP, TSPAN12, FZD4, VCAN Specificity 17 % Genes 50 %
Stickler Syndrome NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Multiple Epiphyseal Dysplasia NGS Panel. By Fulgent Genetics Fulgent Genetics in United States. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Skeletal Dysplasias NGS panel. By Fulgent Genetics Fulgent Genetics in United States. RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67 , (...) View the complete list with 141 more genes Panel GTR000515853 complete gene list RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, CC2D2A, ATP6V0A2, TMEM67, CEP290, SHH, FBN1, SP7, SLC25A12, SLC39A13, P3H1, CRTAP, PLOD2, CTSK, FAM20C, CA2, OSTM1, TNFSF11, TCIRG1, PPIB, TNFRSF11B, MKS1, FGFR3, COL10A1, PTPN11, RUNX2, FGFR2, NIPBL, CDKN1C, PRKAR1A, SLC26A2, TMEM216, TRPV4, LMNA, FGFR1, CASR, PHEX, FGF23, ANO5, HSPG2, FLNA, PIGV, SALL1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CHSY1, WDR35, CANT1, PTH1R, COMP, SOX9, PCNT, DYM, CHST14, GLI3, TP63, IFT140, CDH3, SH3PXD2B, BMPR1B, PITX1, ZMPSTE24, FGF10, SALL4, TBX5, GNAS, SERPINH1, GORAB, THPO, RPGRIP1L, KIF7, IFT80, EVC, EVC2, MYCN, B3GALT6, IFT122, TREM2, GREM1, EIF2AK3, DHCR24, FERMT3, TBXAS1, EXT2, EXT1, MGP, SMARCAL1, NOTCH2, WNT5A, DYNC2H1, ESCO2, ROR2, TBX15, WNT7A, ICK, NEK1, LRP4, CUL7, OBSL1, TBCE, ENPP1, CLCN5, SLC34A3, DMP1, WISP3, MMP2, GPC6, HOXD13, CHST3, NKX3-2, ACP5, ARHGAP31, GALNT3, FLNB, LIFR, SLC35D1, TRIP11, TRPS1, HPGD, PTHLH, GDF5, MATN3, HDAC4, TBX3, DDR2, DLX3, MMP13, MAFB, MMP9, NPR2, BMP2, WNT3, IHH, FBLN1, FBXW4, FMN1, NOG, LMBR1, PAPSS2, KIF22, RASGRP2, SULF1 Specificity 1 % Genes 50 %
COL2A1. By Fulgent Genetics Fulgent Genetics in United States. COL2A1 Specificity 100 % Genes 50 %
Comprehensive Hearing Loss and Deafness Panel. By Blueprint Genetics in Finland. ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15 , (...) View the complete list with 159 more genes Panel GTR000552698 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, EYA4, HSD17B4, TRMU, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, DIABLO, MSRB3, KARS, SUCLA2, MYO7A, TIMM8A, AIFM1, MANBA, MAN2B1, SUCLG1, ALMS1, HARS2, FGFR3, CHD7, GJB2, GJB6, POU3F4, CDKN1C, MET, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, SLC33A1, TBC1D24, SPATA5, KCNJ10, SALL1, ACTG1, ADCY1, BDP1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, CABP2, COCH, CLDN14, CCDC50, COL9A1, COL9A3, CLIC5, DLX5, GIPC3, EDN3, CLPP, HGF, EPS8, MYO3A, MYO6, MYO15A, GRHL2, HOXB1, HOMER2, COL4A6, COL9A2, COL11A1, COL11A2, CRYM, ILDR1, OTOF, DSPP, PJVK, OSBPL2, MARVELD2, POLR1C, PNPT1, NLRP3, OTOG, DIAPH1, DNMT1, DCDC2, PAX3, EDNRB, KCNQ4, ESPN, P2RX2, SIX5, SNAI2, SLC17A8, SERPINB6, SOX10, STRC, SLC19A2, TCOF1, TECTA, TMPRSS3, RIPOR2, LARS2, PRPS1, KCNE1, KCNQ1, RDX, SIX1, SLITRK6, SMPX, TNC, TMC1, CD164, CDC14A, CHSY1, GSDME, ESRRB, FGF3, FOXI1, GJB3, GATA3, LRTOMT, LHFPL5, MIR96, MYH14, MYH9, OTOA, PEX6, POU4F3, SEMA3E, SLC26A5, S1PR2, TJP2, TFAP2A, TMIE, TRIOBP, NARS2, TSPEAR, LOXHD1, GRXCR1, TPRN, POLR1D, DIAPH3, CEACAM16, OTOGL, EPS8L2, TMEM132E, ELMOD3, SYNE4, GRXCR2, PEX26, RPS6KA3, GPSM2, MITF, SALL4, GJA1, DCAF17, SLC29A3, MGP, LRP2, SLC52A2, SLC52A3, CEP78, RMND1, FDXR, WBP2 Specificity 1 % 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 Panel GTR000552714 complete gene list 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 %
Marfan Syndrome Panel. By Blueprint Genetics in Finland. COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10 , (...) View the complete list with 10 more genes Panel GTR000552717 complete gene list COL2A1, COL1A1, COL1A2, COL3A1, FBN1, CBS, COL5A1, COL5A2, PLOD1, COL11A1, COL11A2, MED12, UPF3B, TGFB2, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, SLC2A10, EFEMP2, TGFB3, MAT2A, BGN, ABL1, ADAMTSL4, ADAMTS10, SMAD6, VCAN, ADAMTS17 Specificity 4 % Genes 50 %
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 Panel GTR000552782 complete gene list 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 50 %
Lysosomal Disorders and Mucopolysaccharidosis Panel. By Blueprint Genetics in Finland. ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1 , (...) View the complete list with 82 more genes Panel GTR000552784 complete gene list ARG1, BTD, GAA, ADSL, COL2A1, PSAP, GNPTAB, GLB1, PRODH, GNE, FH, SMPD1, GAMT, CTSD, GLDC, AMT, HEXA, GM2A, SUOX, ALDH5A1, HEXB, PHYH, ALDH7A1, CTSK, QDPR, CTSA, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, MANBA, MAN2B1, GALC, SLC25A15, L2HGDH, ETFB, ETFA, ETFDH, GCDH, TPP1, CLN3, AGA, ARSB, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, GPC3, CLN6, CLN8, CTNS, PPT1, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, MYOT, LDB3, LAMA2, FOLR1, ASAH1, MFSD8, ATP13A2, TCF4, COL11A2, PEX6, FUCA1, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, NEU1, LAMP2, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, PGK1, SLC46A1, MAN1B1, ACY1 Specificity 1 % Genes 50 %
Stickler Syndrome Panel. By Blueprint Genetics in Finland. COL2A1, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, LRP2, VCAN Specificity 13 % Genes 50 %
Syndromic Hearing Loss Panel. By Blueprint Genetics in Finland. ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23 , (...) View the complete list with 66 more genes Panel GTR000552639 complete gene list ABHD12, USH1G, USH1C, ANKH, BTD, BCS1L, TWNK, EYA1, COL2A1, TYR, PDZD7, WFS1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, HARS, MYO7A, TIMM8A, MANBA, MAN2B1, ALMS1, HARS2, CHD7, CDKN1C, SMAD4, COL4A3, PEX1, COL4A4, BSND, COL4A5, KCNJ10, SALL1, ACTG1, ATP6V1B2, ATP6V1B1, CIB2, CD151, CACNA1D, COL9A1, COL9A3, DLX5, EDN3, CLPP, HOXB1, COL4A6, COL9A2, COL11A1, COL11A2, POLR1C, NLRP3, DNMT1, PAX3, EDNRB, SIX5, SNAI2, SOX10, SLC19A2, TCOF1, LARS2, KCNE1, KCNQ1, SIX1, SLITRK6, CHSY1, FGF3, FOXI1, GATA3, MYH9, PEX6, SEMA3E, TFAP2A, POLR1D, PEX26, MITF, GJA1, DCAF17, MGP, LRP2, SLC52A2, SLC52A3, FDXR Specificity 2 % Genes 50 %
Aorta Panel. By Blueprint Genetics in Finland. FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2 , (...) View the complete list with 21 more genes Panel GTR000552671 complete gene list FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, SKI, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, ABCC6, ZNF469, EFEMP2, TGFB3, MFAP5, MAT2A, SMAD2, BGN, ABL1, ENPP1, ADAMTSL4, GATA5, ADAMTS10, SMAD6, ADAMTS17 Specificity 3 % Genes 50 %
Ehlers-Danlos Syndrome Panel. By Blueprint Genetics in Finland. ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1 , (...) View the complete list with 12 more genes Panel GTR000552678 complete gene list ATP7A, B4GALT7, FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, PYCR1, ATP6V0A2, FBN1, ALDH18A1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, ADAMTS2, FLNA, COL11A1, TGFB2, SMAD3, TGFBR1, TGFBR2, FBN2, FKBP14, CHST14, ABCC6, ZNF469, EFEMP2, BGN, DSE Specificity 4 % Genes 50 %
Comprehensive Metabolism Panel. By Blueprint Genetics in Finland. HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...) View the complete list with 414 more genes Panel GTR000552745 complete gene list HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B, AUH, BCKDHA, BCKDHB, BCS1L, TWNK, C12orf65, GAA, ADSL, HNF1A, MMACHC, PPARG, COL2A1, AMN, HNF1B, MTR, SLC37A4, SLC16A1, MTRR, AMACR, HSD17B4, CPS1, CPT2, OPA1, WFS1, PSAP, GNPTAB, GLB1, PRODH, ATP6V0A2, SRD5A3, GNE, HSD17B10, HPRT1, DLD, POLG, SLC25A4, GCK, FOXRED1, RRM2B, NDUFAF2, ALAS2, SLC25A13, MFN2, HADHA, OPA3, FH, SMPD1, COQ9, PDSS2, PDSS1, COQ6, DHODH, DDOST, LIAS, AGK, DNM1L, DGUOK, BOLA3, ACSF3, PDHB, TMEM70, DHDDS, SARS2, NFU1, PHKA2, FAH, HMGCL, TAT, PYGL, G6PC, IDH2, CAVIN1, PHKG2, TMEM126A, DPM3, PGM1, LDHA, ENO3, GAMT, GATM, SUCLA2, COQ8A, RFT1, GYS1, ACAD8, COG1, COG8, TUSC3, SLC25A3, PNPLA2, POLG2, CTSD, ACADSB, TK2, MPDU1, GFM1, HADHB, DPM1, COG7, ALG9, ATIC, ALG1, ALG8, ALG2, UCP2, COQ2, SPG7, ALG12, B4GALT1, GLUD1, PCCB, PCCA, HMGCS2, GCSH, GLDC, AMT, SLC35A1, ALG6, TYMP, MPI, ALG3, D2HGDH, AGPS, OTC, PDHA1, TIMM8A, TAZ, PHKA1, ABCD1, XDH, MMADHC, LMBRD1, TCN2, HEXA, GM2A, SUOX, ALDH5A1, HEXB, LPIN1, PHYH, SLC35C1, NT5C3A, ALDH7A1, CTSK, ACOX1, PHKB, PGAM2, PTS, QDPR, PAH, CUBN, GIF, AGXT, OAT, MPV17, CTSA, ISCU, CPT1A, GUSB, GALNS, GNS, HGSNAT, NAGLU, SGSH, MOCS2, MOCS1, NDUFS1, MCEE, MMAB, MMAA, MUT, HIBCH, DBT, MANBA, MAN2B1, MLYCD, SUCLG1, GALC, OXCT1, IVD, SLC25A15, NAGS, L2HGDH, CBS, PFKM, PYGM, GBE1, ETFB, ETFA, ETFDH, GCDH, GALT, GALE, GALK1, SLC3A1, ASS1, SLC22A5, SLC25A20, MGAT2, PMM2, APTX, ASL, GLRX5, TPP1, CLN3, FECH, PPOX, CPOX, SLC6A8, PDHX, ABCD4, ADA, AGA, AHCY, APRT, ARSB, SUGCT, DOLK, DPAGT1, MOGS, GNMT, HPD, PNP, ARSA, ASPA, GBA, DHCR7, GLA, HRAS, IDS, IDUA, LIPA, NPC1, NPC2, RAI1, SLC2A1, GPC3, CLN6, CLN8, FKTN, CTNS, PEX2, PPT1, PEX7, SERPINA1, SLC7A7, MCOLN1, PEX1, SLC17A5, SUMF1, ABCC8, CLN5, DPYD, LMNA, CLCN1, FKRP, CAV3, DYSF, SCN4A, GCH1, KCNJ11, CASR, PDX1, HNF4A, UMOD, SLC12A3, BSND, CLCNKB, ANO5, MYOT, LDB3, BSCL2, CACNA1S, RYR1, KCNJ2, KCNA1, ANO10, LAMA2, DPM2, NHLRC1, SLC35A2, FOLR1, EPM2A, ALG13, ASAH1, FLNA, MFSD8, ATP13A2, SAMHD1, KCNJ10, TCF4, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, COL11A2, PRPS1, PEX6, FUCA1, PEX14, PEX19, PEX13, PEX3, PEX16, PEX26, PEX10, PEX12, PEX5, UROS, NEU1, SEC23B, HCFC1, LAMP2, MAGT1, EBP, NAGA, HYAL1, CTSC, ADAMTSL2, ANTXR2, DYM, GNPTG, CNNM4, CAV1, PRKAG2, FBXL4, AMPD1, MYH3, ZMPSTE24, IFIH1, ADAR, PGK1, CD320, GNPAT, TRIM37, NBAS, COG4, ALG11, COG6, COG5, TMEM165, SLC46A1, PCBD1, HADH, SLC2A2, AKT2, PTF1A, B3GLCT, TPMT, INSR, SLC39A4, SLC40A1, SI, TFR2, HAMP, HJV, LIPE, TBC1D4, PLIN1, AGPAT2, REN, SLC25A1, MAN1B1, FAM111A, SERAC1, CLPB, LIPT1, ECHS1, SLC30A10, ACY1, SLC6A19, COQ4, RBCK1, CLDN16, CLDN19, FLNB, PEPD, GYG1, PEX11B, SLC7A9, FXYD2, UMPS, HGD, LCT, FMO3, SLC5A1, UROD, TRPM6, HMBS, PCK1, GPHN, CNNM2, SSR4, EGF, NGLY1, STT3B, STT3A, ABCD3, ALAD, UPB1, DPYS, CTH, FLAD1, MOCOS, COQ7, COQ5, TANGO2, GMPPA, ADK, SLC25A26, SLC6A9, GLUL, NIPA2, PRKAG3 Specificity 1 % Genes 50 %
Vitreoretinopathy Panel. By Blueprint Genetics in Finland. BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN , (...) View the complete list with 3 more genes Panel GTR000552765 complete gene list BEST1, LRP5, COL2A1, NDP, KCNJ13, RS1, TSPAN12, FZD4, NR2E3, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, CTNNB1, ZNF408, KIF11, CTC1, COL18A1, VCAN, ATOH7, P3H2, CAPN5 Specificity 5 % Genes 50 %
Cataract Panel. By Blueprint Genetics in Finland. RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE , (...) View the complete list with 49 more genes Panel GTR000552775 complete gene list RECQL4, EYA1, COL2A1, PAX6, PITX3, ABCB6, WFS1, OCRL, NDP, NHS, CRYAB, OPA3, AGK, ALDH18A1, TMEM70, FYCO1, GJA3, BCOR, GALT, GALE, GALK1, CYP27A1, FZD4, NF2, SLC33A1, SIL1, COL4A1, RAB3GAP1, ERCC2, COL11A1, MYH9, TFAP2A, MAF, FOXE3, ERCC6, CTDP1, GJA1, FTL, VSX2, CRYBA4, ERCC8, WRN, COL18A1, ERCC5, ADAMTSL4, FAM126A, GJA8, GCNT2, CRYBB1, CRYBB3, TDRD7, LIM2, CRYAA, CRYGD, CHMP4B, BFSP2, CRYBA1, MIP, SLC16A12, CRYBB2, CRYGC, EPHA2, VIM, BFSP1, P3H2, HSF4, PXDN, CRYGS, ADAMTS18 Specificity 2 % 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 Panel GTR000558786 complete gene list 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 Panel GTR000558787 complete gene list 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 %
Cleft Lip/Palate and Associated Syndromes Panel. By Blueprint Genetics in Finland. COL2A1, KMT2D, COL9A1, COL9A3, COL9A2, COL11A1, COL11A2, TP63, KDM6A, SATB2, IRF6, FOXE1, GRHL3, MSX1, TGDS, TBX22 Specificity 7 % 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 Panel GTR000561533 complete gene list 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 %
Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel. By Insight Medical Genetics in United States. ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1 , (...) View the complete list with 13 more genes Panel GTR000518899 complete gene list ALPL, FKBP10, IFITM5, COL2A1, COL1A1, COL1A2, SERPINF1, SP7, P3H1, CRTAP, PLOD2, AGPS, PPIB, FGFR3, FGFR2, PEX7, SLC26A2, FGFR1, COL11A1, TWIST1, SOX9, TMEM38B, BMP1, WNT1, SERPINH1, IFT80, EVC, EVC2, DYNC2H1, ESCO2, ROR2, INPPL1, PAM16 Specificity 4 % Genes 50 %
Achondrogenesis type 2. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome type I. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Bioarray in Spain. COL2A1 Specificity 100 % Genes 50 %
Exome. By DNA CONSULT GENETICA E BIOTECNOLOGIA LTDA. in Brazil. BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2 , (...) View the complete list with 46 more genes Panel GTR000530118 complete gene list BRCA1, BRCA2, FMR1, HTT, HFE, TTR, UBE3A, APC, MUTYH, PTEN, TP53, ALPL, COL2A1, COL1A1, COL1A2, COL3A1, PRKCG, TGFB1, RET, AFG3L2, MECP2, FBN1, ABCD1, FXN, MEN1, COL5A1, COL5A2, FGFR3, CFTR, BRAF, CDKL5, CHD7, DMD, IDS, KRAS, MAP2K1, DMPK, NRAS, PTPN11, ATXN1, TSC1, CDH1, SERPINA1, ATXN2, TBP, ATXN8OS, KCND3, SHANK2, SEMA3E, PTCHD1, RPL10, SOX9, MAGEL2, F9, F8, CYP2C19, CYP2D6, VKORC1, CCDC88C, IL1RN, CYP2C9, ATXN8, HERC2, GEMIN2, SMNDC1, IPW Specificity 2 % Genes 50 %
STICKLER SYNDROME (AUTOSOMAL DOMINANT). By Laboratorio de Genetica Clinica SL in Spain. COL2A1, COL11A1, COL11A2 Specificity 34 % Genes 50 %
ACHONDROGENESIS TYPE 2. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
STICKLER SYNDROME: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
EPIPHYSEAL DYSPLASIA, MULTIPLE: NGS PANEL. By Laboratorio de Genetica Clinica SL in Spain. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
KNIEST DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
SPONDYLOEPIPHYSEAL DYSPLASIA. By Laboratorio de Genetica Clinica SL in Spain. COL2A1 Specificity 100 % Genes 50 %
Alport & Stickler syndrome hearing loss panel. By LifeLabs Genetics in Canada. COL2A1, COL4A3, COL4A4, COL4A5, COL9A1, COL9A2, COL11A2, EDNRB Specificity 13 % Genes 50 %
Stickler Syndrome panel. By LifeLabs Genetics in Canada. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Stickler Syndrome panel. By LifeLabs Genetics in Canada. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis, type II. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Avascular necrosis of the head of femur. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Czech dysplasia metatarsal type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Epiphyseal dysplasia, multiple, with myopia and conductive deafness. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Kniest dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Coxa plana. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Otospondylomegaepiphyseal dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Platyspondylic lethal skeletal dysplasia Torrance type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia congenita. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Osteoarthritis with mild chondrodysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepimetaphyseal dysplasia Strudwick type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloepiphyseal dysplasia, stanescu type. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Spondyloperipheral dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Stickler syndrome, type I, nonsyndromic ocular. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Vitreoretinopathy with phalangeal epiphyseal dysplasia. By Genera in Brazil. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis Type 2, Sequencing COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Stickler Syndrome Type I , Deletions-Duplications (MLPA) COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Kniest Dysplasia, Massive Sequencing (NGS) COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Multiple Epiphyseal Dysplasia , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. COL2A1, SLC26A2, COL9A1, COL9A3, COL9A2, COMP, MATN3 Specificity 15 % Genes 50 %
Rheumatoid Type Osteoarthropathy and Related Disorders , Panel Massive Sequencing (NGS) 7 Genes. By Reference Laboratory Genetics in Spain. COL2A1, TRPV4, LPIN2, WISP3, IL1RN, HPGD, ACAN Specificity 15 % Genes 50 %
Stickler Syndrome , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. COL2A1, COL9A1, COL9A2, COL11A1, COL11A2 Specificity 20 % Genes 50 %
Conective Tissue Related Disorders , Panel Massive Sequencing (NGS) 39 Genes. By Reference Laboratory Genetics in Spain. FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2 , (...) View the complete list with 19 more genes Panel GTR000559846 complete gene list FBLN5, COL2A1, COL1A1, COL1A2, COL3A1, ELN, ATP6V0A2, FBN1, SLC39A13, CBS, COL5A1, COL5A2, PLOD1, SMAD4, ADAMTS2, COL9A1, COL9A2, COL11A1, COL11A2, TGFB2, NOTCH1, SMAD3, TGFBR1, TGFBR2, MYLK, FBN2, ACTA2, SLC2A10, MYH11, FKBP14, PRDM5, TNXB, CHST14, ABCC6, ZNF469, ACVR1, EFEMP2, TGFB3, ADAMTS10 Specificity 3 % 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 Panel GTR000559863 complete gene list 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 %
Stickler Syndrome Type I , Sequencing COL2A1 Gene. By Reference Laboratory Genetics in Spain. COL2A1 Specificity 100 % Genes 50 %
Achondrogenesis/Hypochondrogenesis , Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. COL2A1, SLC26A2, COL11A1, COL11A2, TRIP11 Specificity 20 % Genes 50 %

Alternate names

Spondylometaphyseal Dysplasia, Corner Fracture Type Is also known as spondylometaphyseal dysplasia, sutcliffe type;spondylometaphyseal dysplasia, sutcliffe type.

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