Choroby rzadkie

Artrogrypozy

ACTA1; AGRN; BIN1; CACNA1E; CASK; CFL2; CHAT; CHRNA1; CHRNB1; CHRND; CHRNE; CHRNG; CHST14; CHUK; CNTNAP1; COL6A2; COLQ; DHCR24; DOK7; DPAGT1; ECEL1; EGR2; ERBB3; ERCC5; ERCC6; ERGIC1; EXOSC3; FBN2; FHL1; FKBP10; FKTN; FLVCR2; GBA; GBE1; GFPT1; GLDN; GLE1; GPR126; KAT6B; KIAA1109; KLHL40; LGI4; LMNA; MAGEL2; MPZ; MTM1; MUSK; MYBPC1; MYH2; MYH3; MYH8; NALCN; NEB; NEK9; PI4KA; PIEZO2; PLOD2; PMM2; PPP3CA; RAPSN; RARS2; RIPK4; SCO2; SCYL2; SEPN1; SLC35A3; SMPD4; SYNE1; TGFB3; TK2; TNNI2; TNNT1; TNNT3; TOR1A; TPM2; TPM3; TRPV4; TSEN2; TSEN54; UBA1; VIPAS39; VPS33B; VRK1; ZBTB42; ZC4H2

Badanie całoeksomowe dla 3 osób (WES 3, dziecko i rodzice)

Badanie całoeksomowe jednej osoby (WES) - reanaliza danych

Badanie całoeksomowe jednej osoby (WES 1, bez potwierdzenia wariantów u rodziców metodą Sangera)

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Badanie genów NF1 i SPRED1

NF1; SPRED1

Brachydaktylia i syndaktylia

BHLHA9; BMP2; BMPR1B; CHSY1; DHCR7; ESCO2; FAM58A; GDF5; GJA1; GNAS; HDAC4; HDAC6; HOXA13; HOXD13; IHH; LMBR1; LRP4; MYCN; NOG; PDE3A; PDE4D; PTDSS1; PTHLH; PVRL4; RECQL4; ROR2; SOX9; TP63

Ceroidolipofuscynozy neuronalne

ATP13A2; CLN3; CLN5; CLN6; CLN8; CTSD; CTSF; DNAJC5; GRN; KCTD7; MFSD8; PPT1; TPP1

Chondrodysplazja punktowa

AGPS; ARSE; EBP; GNPAT; LBR; NSDHL; PEX14; PEX19; PEX5; PEX7; PTH1R

Choroba Fahra

PDGFB; PDGFRB; SLC20A2; XPR1

Choroba Hirschprunga

BDNF; CELSR3; ECE1; EDN3; EDNRB; GDNF; KIAA1279; L1CAM; MITF; NRG1; NRG3; PAX3; PHOX2B; RET; RMRP; SEMA3C; SEMA3D; SOX10; ZEB2

Choroba Niemanna-Picka, typ C

NPC1; NPC2

Choroba Olliera, chrzęstniakowatość śródkostna, enchondromatosis

IDH1; IDH2; PTH1R

Dysostozy czaszkowo-twarzowe

ALPL; ALX3; ALX4; CREBBP; CTSA; DHODH; DLL3; DVL1; DVL3; EDNRA; EFNB1; EFTUD2; EHMT1; EP300; EVC; EVC2; FGFR1; FGFR2; FGFR3; FUCA1; FZD2; GHR; GPC4; HDAC8; HES7; HSPG2; LFNG; LIFR; LMNA; MAN2B1; MESP2; MYCN; NIPBL; NXN; OFD1; PDE4D; POLR1A; POLR1C; POLR1D; PRKAR1A; RAC3; RIPPLY2; RMRP; ROR2; RPS28; RUNX2; SF3B4; SLC25A24; SMC1A; SMC3; SOX9; SRCAP; TBX6; TCF12; TCOF1; TSR2; TWIST1; UBE2A; WNT5A; ZMPSTE24; ZSWIM6

Dysplazja przegrodowo-oczna

HESX1; OTX2; PAX6; PROKR2; SOX2

Dysplazja zaciskająca klatki piersiowej, zespoły krótkie żebro

CEP120; CSPP1; DYNC2H1; DYNC2LI1; EVC; EVC2; FOPNL; GLI2; IFT122; IFT140; IFT172; IFT43; IFT52; IFT80; IFT81; INTU; KIAA0586; NEK1; TCTEX1D2; TCTN3; TTC21B; WDR19; WDR34; WDR35; WDR60

Dysplazje kręgosłupowo-przynasadowe

ACAN; ACP5; BGN; C21orf2; CANT1; CHST3; COL11A1; COL11A2; COL2A1; COMP; DDR2; DYM; EIF2AK3; FN1; GPX4; HSPG2; INPPL1; KIF22; LONP1; MATN3; MBTPS1; MMP13; NKX3-2; PAM16; PAPSS2; PCYT1A; PISD; POP1; RAB33B; RMRP; RNU4ATAC; SLC39A13; SMARCAL1; TRAPPC2; TRPV4; WISP3

Dysplazje mikromeliczne

ADAMTS10; BMPR1B; DVL1; EXT1; FBN1; FGFR3; GDF5; GNAS; GPC6; IFT122; IFT140; IHH; INPPL1; LIFR; LTBP2; NPR2; PRKAR1A; ROR2; SLC35D1; SMAD4; SOX9; TRIP11; TRPS1; WDR19; WDR35; WNT5A

Dysplazje przynasadowe

ACP5; ANKH; COL10A1; COL2A1; DNAJC21; EFTUD1; FGFR3; FLNA; IFT122; IFT140; IFT43; MKKS; MMP13; MMP9; NKX3-2; POLE; PTH1R; RMRP; RUNX2; SBDS; SFRP4; SRP54; TBXAS1; WDR19; WDR35

Dysplazje układu szkieletowego, zaburzenia mineralizacji kości

ABCC6; ACAN; ACP5; ADAMTS10; AFF4; AGPS; ALPL; ANKH; ANKRD11; ANO5; AP2S1; ARSE; B4GALT7; BMP1; BMPR1B; CA2; CANT1; CASR; CDC6; CDT1; CHST3; CLCN5; CLCN7; COL10A1; COL11A1; COL11A2; COL1A1; COL1A2; COL2A1; COL3A1; COL5A1; COL5A2; COL9A1; COL9A2; COL9A3; COMP; CREB3L1; CRTAP; CSGALNACT1; CSPP1; CTSK; CUL7; CYP19A1; CYP27B1; CYP2R1; DDR2; DHCR24; DLL3; DMP1; DVL1; DYM; DYNC2H1; EBP; EIF2AK3; ENPP1; ESCO2; EVC; EVC2; FAH; FAM111A; FAM20C; FBN1; FGF23; FGFR1; FGFR2; FGFR3; FKBP10; FLNA; FLNB; GALNT3; GDF5; GJA1; GNA11; GNAS; GNPAT; GORAB; HPGD; HRAS; HSPG2; IARS2; IFITM5; IFT140; IFT172; IFT80; IHH; INPPL1; KAT6B; KRAS; LBR; LEPRE1; LIFR; LMX1B; LRP5; LTBP2; MAB21L2; MATN3; MBTPS2; MGP; MMP13; MMP9; MTAP; MYO18B; NEK1; NKX3-2; NOTCH2; NPC1; NPC2; NPR2; NRAS; NSDHL; OBSL1; OCRL; ORC1; ORC4; ORC6; OSTM1; P4HB; PAPSS2; PCNT; PEX7; PHEX; PISD; PLEKHM1; PLOD2; PLS3; PPIB; PTDSS1; PTH1R; RMRP; RNU4ATAC; ROR2; RUNX2; SBDS; SERPINF1; SERPINH1; SGMS2; SLC10A7; SLC26A2; SLC34A1; SLC34A3; SLC35D1; SLC39A13; SLC9A3R1; SLCO2A1; SMAD4; SMARCAL1; SMPD1; SNX10; SOST; SOX9; SP7; SRCAP; TBXAS1; TCIRG1; TGFB1; TMEM38B; TMEM67; TNFRSF11A; TNFRSF11B; TNFSF11; TRAPPC2; TRIP11; TRPV4; TTC21B; TYROBP; VDR; WDR19; WDR35; WISP3; WNT1; WNT5A; XYLT1; XYLT2

Ektrodaktylia - dłoń, stopa rozdwojona

BHLHA9; DLX5; DLX6; FGF8; FGFR1; TP63; WNT10B

Hipertermia złośliwa - panel mały

CACNA1S; RYR1

Hipoplazja mostowo-móżdżkowa, mikrocefalia

AKT3; AMPD2; ANKLE2; AP4M1; ARCN1; ARFGEF2; ASPM; ASXL1; ASXL3; ATAD3A; ATR; ATRX; BLM; BUB1B; CASC5; CASK; CCDC47; CDK5RAP2; CDK6; CENPE; CENPF; CENPJ; CEP135; CEP152; CEP164; CEP57; CEP63; CHMP1A; CIT; CKAP2L; CLP1; COASY; COG4; COPB2; COX7B; CRIPT; CTU2; DIAPH1; DONSON; DYNC1H1; DYRK1A; EFTUD2; EIF2S3; EXOSC3; EXOSC8; EXOSC9; EXT2; GEMIN4; GFM1; GPT2; IER3IP1; KANSL1; KATNB1; KCNA4; KIF11; KIF14; LIG4; MBD5; MCPH1; MED17; MEIS2; MFSD2A; MIPEP; MRE11A; MSMO1; MYCN; MYO18B; NBN; NCAPD2; NCAPD3; NCAPH; NDE1; NHEJ1; NIN; NUP37; OPHN1; ORC1; PAFAH1B1; PCDH12; PCLO; PCNT; PHC1; PHGDH; PLAA; PLEKHG2; PLK4; PNKP; POMT1; PPP1R15B; PQBP1; PRUNE; PUS7; PYCR2; QARS; RAD50; RARS2; RBBP8; RTTN; SARS; SASS6; SEPSECS; SLC1A4; SLC25A19; SLC9A6; SMARCA2; SMARCE1; SOX11; STAG2; STAMBP; STIL; TBC1D2; TBC1D20; THOC6; TOE1; TOP3A; TRAPPC6B; TRIO; TRIP13; TRMT10A; TSEN15; TSEN2; TSEN34; TSEN54; TUBB; TUBB2B; TUBGCP4; TUBGCP6; UBE3B; VARS; VPS51; VPS53; VRK1; WDFY3; WDR4; WDR62; WDR73; XRCC4; ZEB2; ZNF335

Hipoplazja móżdżkowa i mostowo-móżdżkowa

AMPD2; ATAD3A; CASK; CDK5; CEP55; CHMP1A; CLP1; COASY; DKC1; EXOSC3; EXOSC8; EXOSC9; OPHN1; OXR1; PCLO; QARS; RARS2; RELN; SEPSECS; TBC1D23; TOE1; TSEN15; TSEN2; TSEN34; TSEN54; TUBA1A; TUBA8; TUBB2B; TUBB3; VLDLR; VPS51; VPS53; VRK1

Holoprozencefalia

CDON; CNOT1; DISP1; FGF8; FGFR1; FOXH1; GLI2; GLI3; NODAL; PRRX1; PTCH1; SHH; SIX3; STAG2; TDGF1; TGIF1; ZIC2

Kraniosynostozy i hipochondroplazja - panel duży

ALPL; ALX3; ALX4; BMP4; CDC45; COLEC10; COLEC11; EDN3; EDNRB; EFNB1; ERF; ESCO2; FGFR1; FGFR2; FGFR3; FLNB; FREM1; GDF5; GLI3; IFT122; IFT140; IFT43; IL11RA; MASP1; MEGF8; MITF; MSX2; NOG; PAX3; POR; PPP3CA; RAB23; RECQL4; RET; SKI; SOX10; SPECC1L; TCF12; TGFBR1; TGFBR2; TTR; TWIST1; TWIST2; WDR19; WDR35; ZIC1

Kraniosynostozy i hipochondroplazja - panel mały

FGFR1; FGFR2; FGFR3; TWIST1

Lizencefalia (gładkomózgowie)

ACTB; ACTG1; ATP6V0A2; B3GALNT2; B3GNT1; CDK5; CEP85L; CIT; COL6A1; COL6A2; COL6A3; CRADD; DCX; DYNC1H1; EOMES; FKRP; FKTN; GPR56; ISPD; KATNB1; KIAA1109; KIF2A; KIF5C; LAMA2; LAMB1; LARGE; LMNA; MACF1; NDE1; PAFAH1B1; POMGNT1; POMGNT2; POMK; POMT1; POMT2; RELN; SEPN1; TMEM5; TMTC3; TUBA1A; TUBB; TUBB2A; TUBB2B; TUBB3; TUBG1; VLDLR; WDR62; YWHAE

Makrocefalia i zespoły przerostowe

ABCC6; ABCC9; AKT1; AKT3; AMER1; ANKH; ASPA; ASXL2; BEST2; BRWD3; CACNA1A; CALR; CAV3; CCND2; CDKN1C; CHD8; CUL4B; DHCR24; DIS3L2; DNMT3A; EED; EIF2B5; EXT2; EZH2; FGFR3; GFAP; GJA1; GLI3; GPC3; GPC4; GPR101; GPSM2; GRIA3; H19; HEPACAM; HERC1; HUWE1; IGF2; KCNQ1OT1; KDM1A; KIAA0195; KIAA0196; KIF7; KPTN; L1CAM; MAST1; MED12; MLC1; MPDZ; MSTN; MTOR; NFIB; NFIX; NSD1; OFD1; PDGFRB; PIGA; PIK3CA; PIK3R2; PTCH1; PTEN; RAB39B; RIN2; RNF125; RNF135; SETD2; SYN1; TBC1D7; TGFB1; TSC1; TSC2; UPF3B; ZBTB20

Naczyniaki jamiste ośrodkowego układu nerwowego

CCM2; KRIT1; PDCD10; RASA1

Neurofibromatoza, Zespół LEOPARD

BRAF; KIT; KITLG; LZTR1; MAP2K1; NF1; NF2; PTPN11; RAF1; SMARCB1; SPRED1

Niedrożność przewodu pokarmowego

CDK9; CHD7; CLMP; DHCR7; EFTUD2; FANCB; FANCC; GLI3; ITGA6; ITGB4; MID1; MYCN; RFX6; SOX2; TTC7A

Osteopetroza i dysplazje kostne

AMER1; ANKH; ANO5; CA2; CLCN7; COL11A2; COL1A1; COL2A1; CTSK; DLX3; FAM111A; FAM20C; FBN1; FGFR1; FGFR2; FGFR3; FLNB; GJA1; HPGD; ITGB3; LBR; LEMD3; LRP4; LRP5; MTAP; OSTM1; PLEKHM1; PTDSS1; PTH1R; RUNX2; SLC26A2; SLC29A3; SLCO2A1; SNX10; SOST; TBXAS1; TCIRG1; TGFB1; TNFRSF11A; TNFRSF11B; TNFSF11; TYROBP

Polymikrogyria

AKT3; CCND2; COL3A1; DYNC1H1; FH; FIG4; FKTN; GPR56; GPSM2; KIAA1279; KIF21A; LAMC3; MTOR; NDE1; NR2E1; NSDHL; OCLN; PHOX2A; PI4KA; PIK3CA; PIK3R2; RAB18; RTTN; SNAP29; SRPX2; TBC1D20; TUBA1A; TUBA8; TUBB2A; TUBB2B; TUBB3; WDR62

Przerostowe wady wrodzone (Overgrowth syndromes)

AKT1; AKT3; APC2; ASPA; ASXL2; BRWD3; CCND2; CDKN1C; CHD8; CUL4B; DHCR24; DIS3L2; DNMT3A; EED; EIF2B5; EZH2; FIBP; GFAP; GLI3; GPC3; GPC4; GPSM2; GRIA3; H19; HEPACAM; HUWE1; IGF2; KCNK4; KCNQ1OT1; KDM1A; KIAA0195; KIAA0196; KIF7; KPTN; L1CAM; MED12; MLC1; MPDZ; NFIB; NFIX; NSD1; OFD1; PDGFRB; PIGA; PIK3CA; PIK3R2; PTCH1; PTEN; RAB39B; RNF125; RNF135; SETD2; SUZ12; SYN1; TSC1; TSC2; UPF3B; ZBTB20

Przerostowe wady wrodzone (Overgrowth syndromes) - panel mały

EZH2; NSD1

Sekwencje akinezji płodu

CHRNA1; CHRND; CHRNE; CHRNG; COLQ; DOK7; ERCC6; ERCC8; GLE1; KLHL40; MUSK; NUP88; RAPSN

VEO IBD Nieswoiste choroby zapalne jelit o bardzo wczesnym początku

ADA; ADAM17; AICDA; ALPI; ARPC1B; BTK; CASP8; CD3G; CD40LG; CD55; COL7A1; CTLA4; CYBA; CYBB; DCLRE1C; DKC1; DOCK8; FERMT1; FOXP3; G6PC3; GUCY2C; HPS1; HPS4; HPS6; ICOS; IKBKG; IL10; IL10RA; IL10RB; IL21; IL2RA; IL2RB; IL2RG; ITCH; ITGB2; LIG4; LRBA; MALT1; MASP2; MVK; NCF1; NCF2; NCF4; NLRC4; NPC1; PIK3CD; PIK3R1; PLCG2; POLA1; RAG1; RAG2; RIPK1; RTEL1; SH2D1A; SKIV2L; SLC37A4; SLC9A3; SLCO2A1; STAT1; STAT3; STIM1; STXBP2; STXBP3; TGFB1; TGFBR1; TGFBR2; TNFAIP3; TRIM22; TRNT1; TTC37; TTC7A; WAS; XIAP; ZAP70; ZBTB24

Wrodzona łamliwość kości (Osteogenesis imperfecta)

ACTA1; ALPL; ANO5; ARCN1; ATP6V0A2; B3GALNT2; B3GAT3; B4GALT7; BMP1; CAPN3; CFL2; CHKB; CLCN5; COL1A1; COL1A2; COL3A1; COL6A1; COL6A2; COL6A3; CREB3L1; CRTAP; DNM2; DSPP; EMD; ENPP1; FAM46A; FGF23; FHL1; FKBP10; FKRP; FKTN; FLNA; FLNB; GAA; GMPPB; IFITM5; ISPD; KBTBD13; KLHL40; LAMA2; LAMP2; LEPRE1; LMNA; LRP5; MBTPS2; MESDC2; MYH7; NEB; OCRL; PHEX; PIEZO2; PLOD2; PLS3; POMGNT1; POMT1; POMT2; PPIB; PYCR1; RAPSN; RYR1; SEC24D; SEPN1; SERPINF1; SERPINH1; SGMS2; SIL1; SLC34A3; SP7; SPARC; TMEM38B; TMEM43; TMEM5; TNNT1; TPM2; TPM3; WNT1

Wrodzona łamliwość kości (Osteogenesis imperfecta) - panel mały

COL1A1; COL1A2; COL3A1; CRTAP; LEPRE1; LRP5

Zaburzenia genów MCCC

MCCC1; MCCC2

Zaburzenia migracji neuronów

ACTB; ACTG1; AKT3; APC2; ARF1; ARFGEF2; ASTN2; ATP6V0A2; B3GALNT2; B3GNT1; CDK5; CEP85L; CHD7; COL18A1; COL4A1; COL4A2; COL4A4; CPT2; CTNNA2; CTNND2; DAG1; DCDC2; DCX; DYNC1H1; EMX2; EOMES; ERMARD; FAT4; FBXO31; FGFR3; FH; FKRP; FKTN; FLNA; FLVCR2; GMPPB; GPR56; GPSM2; IER3IP1; ISPD; KATNB1; KIAA0319; KIAA1279; KIF2A; KIF5C; KIF7; L1CAM; LAMA2; LAMB1; LAMC3; LARGE; MACF1; MED12; MEF2C; MPDZ; NDE1; NEDD4L; NSDHL; OCLN; PAFAH1B1; PAX6; PEX7; PHGDH; PIK3CA; PIK3R2; POMGNT1; POMGNT2; POMK; POMT1; POMT2; PQBP1; RAB18; RAB3GAP1; RAB3GAP2; RELN; RTTN; SEPSECS; SLC12A6; SNAP29; SPTBN5; SRGAP1; SRGAP2; SRPX2; TBR1; TMEM5; TMTC3; TUBA1A; TUBA8; TUBB; TUBB2A; TUBB2B; TUBB3; TUBB4A; TUBG1; ULK4; VDAC1; VLDLR; WDR62; YWHAE

Zaburzenia wzrostu

ACAN; ACTB; ACTG1; AKT1; AMMECR1; ARCN1; ARHGAP31; ARID1A; ARID1B; ATR; B3GAT3; B4GALT7; BCS1L; BMP2; BMP4; BMPR1A; BMPR1B; BRAF; BRIP1; CANT1; CBL; CCDC47; CCDC8; CDC42; CDC45; CDC6; CDT1; CENPJ; CEP152; CEP63; CHST14; CHSY1; COL1A1; COL1A2; COL27A1; COL3A1; COL5A1; COL5A2; CREB3L1; CREBBP; CRTAP; CUL7; DHCR7; DHODH; DLL4; DLX5; DOCK6; DONSON; DYNC2H1; EOGT; EP300; ERCC4; EYA1; FAM46A; FAM58A; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; FANCL; FANCM; FBN1; FGD1; FGF3; FGFR3; FN1; FOXL2; FTO; GH1; GHR; GHRHR; GHSR; GLI2; GNAS; HDAC8; HESX1; HRAS; IARS2; IDUA; IFT52; IGF1; IGF1R; IGFALS; INSR; IRS1; KRAS; LARP7; LEPRE1; LFNG; LHX3; LHX4; LTBP3; LZTR1; MAP2K1; MAP2K2; MBTPS2; NF1; NHEJ1; NIPBL; NOTCH2; NPR2; NR5A1; NRAS; NSD1; OBSL1; ORC1; ORC4; ORC6; OSGEP; OTX2; PALB2; PCNT; PDE3A; PDE4D; PISD; PITX1; PITX2; PLS3; POC1A; POP1; POU1F1; PPIB; PPP3CA; PRMT7; PROKR2; PROP1; PTCH1; PTDSS1; PTHLH; PTPN11; PUF60; RAD21; RAF1; RALA; RASA2; RBBP8; RBPJ; RIT1; RNU4ATAC; RRAS; RTTN; SGMS2; SHH; SHOC2; SIX3; SLX4; SMARCA2; SMARCE1; SMC1A; SMC3; SOS1; SOX11; SOX2; SOX3; SRCAP; STAT5B; TALDO1; TBX19; TBX2; TBX3; TGIF1; TOP3A; TRIM37; TRMT10A; XRCC4; XYLT1; XYLT2; ZIC2

Zespół Adamsa-Olivera

ARHGAP31; DLL4; DOCK6; EOGT; KCTD1; NOTCH1; RBPJ; UBR1

Zespół Alagille’a

JAG1; NOTCH2

Zespół Cockayne

ERCC3; ERCC4; ERCC5; ERCC6; ERCC8

Zespół Coffin-Siris i zespół Nicolaides-Baraitser

ARID1A; ARID1B; ARID2; DPF2; RSPO4; SMARCA2; SMARCA4; SMARCB1; SMARCC2; SMARCD1; SMARCE1; SOX11; SOX4

Zespół Cornelii de Lange

AFF4; HDAC8; KMT2A; NIPBL; RAD21; SMC1A; SMC3; TAF6

Zespół Ehlersa-Danlosa badanie podstawowe

COL1A1; COL5A1; COL5A2; TNXB

Zespół Ehlersa-Danlosa i choroby podobne

ABCC6; ADAMTS2; AEBP1; ALDH18A1; ARFGEF2; ATP6V0A2; ATP7A; B4GALT7; BGN; C1R; C1S; CBS; CHST14; COL11A1; COL12A1; COL1A1; COL1A2; COL2A1; COL3A1; COL5A1; COL5A2; DSE; EFEMP2; ELN; FBLN5; FBN1; FBN2; FKBP14; FLNA; NEDD4L; PLOD1; PRDM5; PYCR1; SLC39A13; SMAD3; TGFB2; TGFBR1; TGFBR2; TNXB; ZNF469

Zespół hiper-IgE, Zespół Hioba, HIES

DCLRE1C; DOCK8; IL6ST; PTPRC; RAG1; RAG2; SPINK5; STAT3; TYK2; ZMYND11

Zespół Kabuki

CHD7; EYA1; FLNB; HNRNPK; IRF6; KDM1A; KDM6A; KMT2D; SIX5; TUBA3C

Zespół Le Merrera

ATR; BCS1L; CCDC8; CDC45; CDC6; CDT1; CENPJ; CEP152; CEP63; CUL7; LARP7; NOTCH2; OBSL1; ORC1; ORC4; ORC6; PCNT; POC1A; RBBP8; RNU4ATAC; RTTN; SRCAP; TRIM37; XRCC4

Zespół Loeys-Dietza

SMAD2; SMAD3; TGFB2; TGFB3; TGFBR1; TGFBR2

Zespół Marfana i choroby podobne

ABL1; ACTA2; ADAMTS10; ADAMTS17; ADAMTS2; ADAMTSL4; ALDH18A1; ATP6V0A2; ATP7A; B3GAT3; B4GALT7; BGN; CBS; CHST14; COL11A1; COL11A2; COL12A1; COL1A1; COL1A2; COL2A1; COL3A1; COL5A1; COL5A2; DLG4; DSE; EFEMP2; ELN; FBLN5; FBN1; FBN2; FKBP14; FLCN; FLNA; GORAB; LOX; LTBP4; MAT2A; MED12; MFAP5; MYH11; MYLK; NOTCH1; PLOD1; PRDM5; PRKG1; PYCR1; RIN2; SKI; SLC2A10; SLC39A13; SMAD2; SMAD3; TGFB2; TGFB3; TGFBR1; TGFBR2; TNXB; UPF3B; VCAN; ZDHHC9; ZNF469

Zespół Marfana, Zespół Loeysa-Dietza - panel podstawowy

FBN1; FBN2; SMAD3; TGFB2; TGFB3; TGFBR1; TGFBR2

Zespół Meiera-Gorlina

CDC45; CDC6; CDT1; GMNN; MCM5; ORC1; ORC4; ORC6

Zespół mózgowo-oczno-twarzowo-szkieletowy (Cerebro-oculo-facio-skeletal syndrome)

ERCC1; ERCC2; ERCC5; ERCC6; ERCC8

Zespół Retta

CDKL5; FOXG1; MECP2

Zespół Robinowa

DVL1; DVL3; FZD2; GPC4; NXN; RAC3; ROR2; WNT5A

Zespół Rubinsteina-Taybiego

CREBBP; EP300

Zespół Seckela

ATR; ATRIP; CENPJ; CEP152; CEP63; DNA2; NIN; NSMCE2; PCNT; RBBP8; TRAIP

Zespół Sticklera

COL11A1; COL11A2; COL2A1; COL9A1; COL9A2; COL9A3; LRP2; VCAN

Zespół Treacher-Collins'a

POLR1C; POLR1D; TCOF1

Zespół Weiss-Kruszka

ZNF462