Skip to main content
Horario: 8:00 a 19:00 Contacto

Enfermedades respiratorias / pulmonares (neumológicas)

BRONQUIECTASIAS: 22 genes – Plazos de entrega: 3-4 semanas

CCDC39, CCDC40, CFTR, DNAAF1, DNAAF2, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, FBN1, GAS2L2, NME8, POLD1, RSPH1, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, STK36

DIFICULTAD RESPIRATORIA NEONATAL: 99 genes – Plazos de entrega: 3-4 semanas

ABCA3, ACE, AFF4, AGT, AGTR1, AK7, ALB, ARL6, ARMC4, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C8orf37, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD40, CD40LG, CEP164, CEP19, CEP290, CFAP298, CFTR, CSF2RA, CSF2RB, CXCR4, DKC1, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DRC1, ELANE, FBN3, FLNA, FOXF1, GATA2, HSD11B2, IFT172, IFT27, IL1RN, INPPL1, ITGA3, KIF7, LRRC6, LZTFL1, MARS, MKKS, MKS1, MTHFR, MTM1, NDST1, NKX2-1, NME8, NOTCH2, OFD1, PARN, PIEZO2, REN, RPGR, RSPH1, RSPH4A, RSPH9, RTEL1, SARS2, SCLT1, SDCCAG8, SFTPB, SFTPC, SLC27A4, SLC34A2, SLC7A7, SPAG1, TERT, TINF2, TMEM165, TMEM173, TRIM32, TTC8, WDPCP, ZMYND10

DISCINESIA CILIAR PRIMARIA: 42 genes – Plazos de entrega: 3-4 semanas

AK7, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CEP164, CFAP298, CFAP57, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DRC1, FOXJ1, GAS2L2, HYDIN, INVS, LRRC6, NME8, NOTCH2, OFD1, RPGR, RSPH1, RSPH4A, RSPH9, SPAG1, SPEF2, STK36, ZMYND10

ENFERMEDAD PULMONAR INTERSTICIAL: 54 genes – Plazos de entrega: 3-4 semanas

ABCA3, ACVRL1, AP3B1, BMPR1B, BMPR2, CAV1, CCBE1, CFTR, CSF2RA, CSF2RB, DICER1, DKC1, EIF2AK4, ELMOD2, ENG, FAM111B, FAT4, FGF10, FLCN, FLNA, FLT4, FOXC2, FOXF1, FOXP1, GATA2, GDF2, HPS1, HPS4, ITCH, ITGA3, KCNK3, MUC5B, NF1, NKX2-1, OAS1, PARN, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMAD4, SMAD9, SMPD1, STAT3, STRA6, TBX4, TERT, TINF2, TMEM173, TSC1, TSC2

ENFERMEDAD QUÍSTICA PULMONAR: 9 genes – Plazos de entrega: 3-4 semanas

EFEMP2, ELN, FBLN5, FLCN, LTBP4, NF1, SERPINA1, TSC1, TSC2

ENFERMEDADES PULMONARES/NEUMOLÓGICAS GLOBAL: 264 genes – Plazos de entrega: 3-4 semanas

ABCA3, ABCC8, ACE, ACVRL1, AFF4, AGT, AGTR1, AK7, ALB, AP3B1, AQP1, ARID1A, ARID1B, ARL6, ARMC4, ASAH1, ASCL1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BDNF, BLOC1S3, BLOC1S6, BMP2, BMP4, BMPR1B, BMPR2, C8orf37, CAV1, CCBE1, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CD40, CD40LG, CDKN1C, CEP164, CEP19, CEP290, CFAP298, CFAP57, CFTR, CHAT, CHD7, CHRNA1, CHRNB1, CHRND, CHRNE, COL3A1, COLQ, COX7B, CSF2RA, CSF2RB, CXCR4, DICER1, DISP1, DKC1, DLL3, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, DNAL1, DOCK8, DRC1, DSP, DTNBP1, EDN1, EDN3, EFEMP2, EFNB1, EIF2AK4, ELANE, ELMOD2, ELN, ENG, EYA1, FAM111B, FAT4, FBLN5, FBN1, FBN3, FGF10, FGFR2, FLCN, FLG, FLNA, FLT4, FOXC2, FOXF1, FOXJ1, FOXP1, FOXRED1, FRAS1, FREM1, FREM2, GAS2L2, GATA2, GATA4, GATA5, GATA6, GDF2, GDNF, GFRA1, GLI2, GLI3, GLRA1, GPC3, HCCS, HDAC8, HES7, HLX, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSD11B2, HYDIN, IFT172, IFT27, IL1RN, INPPL1, INVS, ITCH, ITGA3, KCNA5, KCNK3, KDM6A, KIF7, KMT2D, LBR, LFNG, LIPT1, LONP1, LRP2, LRRC6, LTBP4, LZTFL1, MARS, MECP2, MESP2, MKKS, MKS1, MMP14, MTHFR, MTM1, MUC5B, MYOD1, NDST1, NDUFB11, NF1, NFU1, NIPBL, NKX2-1, NME8, NOP10, NOTCH2, NOTCH3, NR2F2, NSD1, OAS1, OCRL, OFD1, PARN, PBX1, PHOX2A, PHOX2B, PIEZO2, PIGN, POGZ, POLD1, PORCN, RAD21, RAPSN, RARB, RASA1, RASA2, REN, RET, RLIM, ROBO1, RPGR, RSPH1, RSPH4A, RSPH9, RTEL1, SARS2, SCLT1, SCN4A, SCNN1A, SCNN1B, SCNN1G, SDCCAG8, SERPINA1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC27A4, SLC2A10, SLC34A2, SLC6A5, SLC7A7, SLIT3, SMAD1, SMAD4, SMAD9, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMPD1, SOX11, SOX17, SOX7, SPAG1, SPEF2, STAT3, STK36, STRA6, TBX1, TBX4, TBX5, TBX6, TERT, TINF2, TLR2, TLR3, TLR4, TLR9, TMEM165, TMEM173, TOPBP1, TRIM32, TSC1, TSC2, TTC8, TWIST1, WDPCP, WT1, ZEB2, ZFPM2, ZMYND10

FIBROSIS PULMONAR IDIOPÁTICA: 37 genes – Plazos de entrega: 3-4 semanas

ABCA3, AP3B1, ASAH1, CSF2RA, CSF2RB, DKC1, DOCK8, DSP, ELMOD2, FAM111B, FLG, HPS1, HPS4, HRAS, ITGA3, MUC5B, NKX2-1, NOTCH2, PARN, RPGR, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC34A2, SLC7A7, SMPD1, STAT3, STRA6, TERT, TINF2, TLR2, TLR3, TLR4, TLR9

HERNIA DIAFRAGMÁTICA CONGÉNITA: 69 genes – Plazos de entrega: 3-4 semanas

ARID1A, ARID1B, BMP4, CDKN1C, CHD7, COL3A1, COX7B, DISP1, DLL3, EFEMP2, EFNB1, EYA1, FBN1, FGFR2, FRAS1, FREM1, FREM2, GATA4, GATA5, GATA6, GLI2, GLI3, GPC3, HCCS, HDAC8, HES7, HLX, KDM6A, KIF7, KMT2D, LBR, LFNG, LONP1, LRP2, LTBP4, MESP2, MMP14, MYOD1, NDST1, NDUFB11, NIPBL, NR2F2, NSD1, OCRL, PBX1, PIGN, POGZ, PORCN, RAD21, RARB, RLIM, ROBO1, SLC2A10, SLIT3, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SOX11, SOX7, STRA6, TBX1, TBX5, TBX6, TSC2, TWIST1, WT1, ZFPM2

HIPERTENSIÓN PULMONAR: 32 genes – Plazos de entrega: 3-4 semanas

ABCA3, ABCC8, ACVRL1, AQP1, BMPR1B, BMPR2, CAV1, EDN1, EIF2AK4, ENG, FBN1, FLNA, FOXF1, FOXRED1, GDF2, HRAS, KCNA5, KCNK3, LIPT1, NF1, NFU1, NOTCH3, RASA1, RASA2, SARS2, SMAD1, SMAD4, SMAD9, SOX17, STRA6, TBX4, TOPBP1

SÍNDROME DE HIPOVENTILACIÓN CENTRAL CONGÉNITA: 21 genes – Plazos de entrega: 3-4 semanas

ASCL1, BDNF, BMP2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ, EDN3, GDNF, GFRA1, GLRA1, MECP2, PHOX2A, PHOX2B, RAPSN, RET, SCN4A, SLC6A5, ZEB2

BUSCADOR POR ENFERMEDAD O GEN