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Respiratory / pulmonary (pneumological) diseases

BRONCHIECTASIA: 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

CONGENITAL CENTRAL HYPOVENTILATION SYNDROME: 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

CONGENITAL DIAPHRAGMATIC HERNIA: 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

GLOBAL LUNG/PNEUMOLOGICAL DISEASES: 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

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

INTERSTITIAL LUNG DISEASE: 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

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

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

NEONATAL RESPIRATORY DIFFICULTY: 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

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 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 SURFACTANT DEFICIENCY: 7 genes – Delivery time: 3-4 weeks

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

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