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Respiratory / pulmonary (pneumological) diseases

BRONCHIECTASIS: 22 genes – Delivery time: 3-4 weeks

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

CYSTIC LUNG DISEASE: 9 genes – Delivery time: 3-4 weeks

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

DIAPHRAGMATIC HERNIA, CONGENITAL: 69 genes – Delivery time: 3-4 weeks

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

HYPOVENTILATION SYNDROME, CONGENITAL CENTRAL: 21 genes – Delivery time: 3-4 weeks

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

IDIOPATHIC PULMONARY FIBROSIS: 37 genes – Delivery time: 3-4 weeks

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

INFANT ACUTE RESPIRATORY DISTRESS SYNDROME: 99 genes – Delivery time: 3-4 weeks

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

INTERSTITIAL PULMONARY DISEASE ( PULMONARY SURFACTANT DYSFUNCTION): 54 genes – Delivery time: 3-4 weeks

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

PRIMARY CILIARY DYSKINESIA: 42 genes – Delivery time: 3-4 weeks

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

PULMONARY ARTERY HYPERTENSION: 32 genes – Delivery time: 3-4 weeks

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

PULMONARY DISEASES, GLOBAL: 264 genes – Delivery time: 3-4 weeks

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

PULMONARY SURFACTANT DYSFUNCTION: 7 genes – Delivery time: 3-4 weeks

ABCA3, CSF2RA, CSF2RB, FOXF1, NKX2-1, SFTPB, SFTPC

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