Tests

Cystic Fibrosis; Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

Cystic Fibrosis

Cystic Fibrosis

Pseudohypoaldosteronsim Type 1 (autosomal recessive); Carbonic Anhydrase XII deficiency

Huntington Disease

Huntington Disease-Like 2 (HDL2)

Auto-inflammatory disorders
Genes: ACP5, ADAM17, ADAR, AP1S3, CARD14, ADA2, COPA, DNASE2, IFIH1, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OTULIN, PLCG2, POLA1, PSMB8*, PSTPIP1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH3BP2, SLC29A3, TMEM173, TNFAIP3, TNFRSF1A, TREX1, USP18

Complement deficiencies
Genes: C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C4BPA, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFI, CFP, FCN3, MASP2, SERPING1, THBD

Intrinsic/innate immune defects
Genes: APOL1, CARD9, CLCN7, CXCR4, CYBB, FCGR3A, HMOX1, IFIH1, IFNAR2, IFNGR1, IFNGR2, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK1, IRAK4, IRF3, IRF7, IRF8, ISG15, JAK1, MYD88, NBAS, NCSTN, OSTM1, PLEKHM1, PSEN1, PSENEN, RANBP2, RORC, RPSA, SNX10, STAT1, STAT2, TBK1, TCIRG1, TICAM1, TIRAP, TLR3, TMC6, TMC8, TNFRSF11A, TNFSF11, TRAF3, TRAF3IP2, TYK2, UNC93B1

Defects of phagocyte number and function
Genes: ACTB, CEBPE, CFTR, CLPB, CSF2RA, CSF2RB, CSF3R, CTSC, CYBA, CYBB, DNAJC21, ELANE, FERMT3, FPR1, G6PC3, G6PD, SLC37A4, GATA2, GFI1, HAX1, HYOU1, ITGB2, JAGN1, LAMTOR2, MKL1, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SMARCD2, SRP54, TAZ, USB1, VPS13B, VPS45, WAS, WDR1

Immune dysregulation
Genes: AIRE, AP3B1, AP3D1, BACH2, CASP10, CASP8, CD27, CD70, CTLA4, CTPS1, DNASE1L3, FAAP24, FADD, FASLG, FOXP3, IL10, IL10RA, IL10RB, IL2RA, ITCH, ITK, JAK1, LRBA, LYST, MAGT1, NFAT5, PEPD, PRF1, PRKCD, RAB27A, RASGRP1, CARMIL2, SH2D1A, STAT3, STX11, STXBP2, FAS, TPP2, UNC13D, XIAP, ZAP70

Antibody deficiencies
Genes: AICDA, ATP6AP1, BLNK, BTK, CARD11, CD19, CD79A, CD79B, CD81, CR2, IGLL1, IKZF1, INO80, IRF2BP2, MOGS, MS4A1, MSH6, NFKB1, NFKB2, PIK3CD, PIK3R1, PTEN, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37, UNG

Syndromic immunodeficiencies
Genes: ARPC1B, ATM, CARD11, CCBE1, CDCA7, CHD7, CTC1, DCLRE1B, DKC1, DNMT3B, EPG5, ERCC6L2, EXTL3, FAT4, FOXN1, GINS1, HELLS, RBCK1, RNF31, NFKBIA, KDM6A, KMT2D, LIG1, MCM4, MRE11, MTHFD1, MUS81, MYSM1, NBN, IKBKG, NHP2, NOP10, NSMCE2, NSMCE3, ORAI1, PARN, PGM3, PMS2, PNP, POLA1, POLE, POLE2, RAD50, BLM, RECQL4, RMRP, RNF168, RNU4ATAC, RTEL1, SAMD9, SAMD9L, SEMA3E, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STN1, TBX1, TCN2, TERC, TERT, TINF2, TPP1, TTC7A, WAS, WIPF1, WRAP53, ZBTB24

Combined immunodeficiencies
Genes: ADA, AK2, B2M, BCL10, BCL11B, CARD11, CD247, CD3D, CD3E, CD3G, CD40, CD40LG, CD8A, CIITA, CORO1A, DCLRE1C, DOCK2, DOCK8, ICOS, IKBKB, IL21, IL21R, IL2RG, IL7R, JAK3, LAT, LCK, LIG4, MALT1, MAP3K14, MSN, NHEJ1, PRKDC, PTPRC, RAG1, RAG2, RELB, RFX5, RFXANK, RFXAP, RHOH, STK4, TAP1, TAP2, TAPBP, TFRC, TNFRSF4, ZAP70

Neonatal Respiratory Distress; ABCA3-Related Surfactant Deficiency; Surfactant Protein B Deficiency; Surfactant Protein C Deficiency; Alveolar Capillary Displasia with Misalignment of Pulmonary Veins; Choreoathetosis, Congenital Hypothyroidism, Neonatal Respiratory Distress Syndrome

Diffuse lung disease

Mucociliary disorders
Genes: ARMC4, CFAP298, CFAP300, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, CFTR, DNAAF1, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAH1, DNAH9, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, GAS8, HYDIN, LRRC6, MCIDAS, NME8, OFD1, PIH1D3, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, SPZ1, TTC25, ZMYND10

Interstitial lung disease
Genes: ABCA3, AP3B1, COPA, CSF2RA, CSF2RB, DKC1, ELMOD2, FLCN, FLNA, FOXF1, GATA2, GBA, HPS1, HPS4, IDUA, MARS, NAF1, NF1, NKX2-1, NPC2, OAS1, PARN, RTEL1, SFTPA1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, STAT3, TERC, TERT, TINF2, TMEM173, TSC1, TSC2

Pulmonary vascular disorders
Genes: ACVRL1, BMPR1B, BMPR2, CA12, CAV1, COL1A1, COL3A1, EIF2AK4, ENG, FBN1, FOXF1, GDF2, KCNA5, KCNK3, RASA1, SMAD9

Glomerular diseases and complement genes

Genes: ACE, ACTN4, ADAMTS13, COQ8B, ALG1, ALMS1, ANLN, APOE, APOL1, AQP2, ARHGAP24, ARHGDIA, AVPR2, C1QA, C1QB, C1QC, C1R, C1S, C2, C2CD3, C3, C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C6, C7, C8A, C8B, C8G, C9, CD151, CD2AP, CD46, CD55, CD59, CD93, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CLU, COL4A1, COL4A3, COL4A4, COL4A5, COL4A6, COQ2, COQ6, CR1, CR2, CRB2, CUBN, DGKE, ELANE, EMP2, ENPP1, F2, FAT1, FCN1, FCN2, FCN3, FGA, FN1, GLA, GLIS3, GREM1, HNF1B, HNF4A, INF2, ITGA3, ITGAM, ITGAX, ITGB2, ITGB4, LAMB2, LMX1B, MBL2, MEFV, MMACHC, MYH9, MYO1E, NPHS1, NPHS2, NUP107, NUP205, NUP93, OCRL, PAX2, PDSS2, PLCE1, PLCG2, PODXL, REN, SCARB2, SERPING1, SGPL1, SLC17A5, SLC5A1, SLC5A2, SMARCAL1, THBD, TNFRSF1A, TRPC6, VEGFA, VSIG4, VTN, WDR73, WT1

Disorders of ion transport, nephrolithiasis, and nephrocalcinosis

Genes: ACE, ADCY10, AGT, AGTR1, AGXT, APRT, AQP2, ATP6V0A4, ATP6V1B1, ATP7B, AVPR2, BSND, CACNA1D, CA2, CACNA1H, CACNA1S, CASR, CDC73, CLCN5, CLCNKA, CLCNKB, CLDN16, CLDN19, CNNM2, CUL3, CYP11B1, CYP11B2, CYP24A1, DMP1, EGF, EHHADH, ENPP1, FAH, FGF23, FXYD2, GATA3, GRHPR, HNF4A, HOGA1, HPRT1, HSD11B2, KCNJ1, KCNJ10, KCNJ2, KCNJ5, KLHL3, LRP5, MAGED2, NEDD4L, NOTCH2, NR3C2, OCRL, PHEX, PLG, REN, SARS2, SCN4A, SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A3, SLC22A12, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC4A4, SLC7A9, SLC9A3R1, TRPM6, VDR, WNK1, WNK4, XDH

CAKUT, ciliopathies, tubulointerstitial diseases, and other

Genes: ACE, COQ8A, AGT, AGTR1, AHI1, ALG9, ALMS1, ANKS6, APOA1, ARL13B, ARL6, B2M, B9D1, B9D2, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BICC1, BMP4, BMPER, CPLANE1, C8orf37, CC2D2A, CDC73, CEP104, CEP120, CEP164, CEP290, CEP41, CEP83, CHD1L, CHD7, CLCN5, COLEC10, COLEC11, CREBBP, CSPP1, CTNS, DACH1, DCDC2, DHCR7, DHTKD1, DLC1, DLG1, DNAJB11, DSTYK, DYNC2H1, E2F3, EYA1, FAH, FAN1, FAT1, FGA, FGF20, FGFR1, FOXP1, FRAS1, FREM1, FREM2, GANAB, GATA3, GDNF, GLI3, GLIS2, GLIS3, GPC3, GRIP1, GSN, HNF1B, IFT122, IFT140, IFT172, IFT27, IFT43, IFT74, IFT80, INPP5E, INVS, IQCB1, ITGA8, ITGB2, JAG1, KCTD1, KIAA0556, KIAA0586, KIF12, KIF14, KIF7, LMNA, LRP5, LYZ, LZTFL1, MASP1, MASP2, MEFV, MKKS, MKS1, MUC1, NEIL1, NEK1, NEK8, NLRP3, NOTCH2, NPHP1, NPHP3, NPHP4, OFD1, PAX2, PBX1, PDE6D, PKD1, PKD2, PKHD1, PMM2, REN, RET, ROBO2, RPGRIP1L, SALL1, SALL4, SARS2, SDCCAG8, SEC61A1, SEMA3E, SIX1, SIX2, SIX5, SLC2A2, SLC41A1, SLIT2, SOX17, SRGAP1, TBX18, TCTN1, TCTN2, TCTN3, TFAP2A, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TNXB, TRAP1, TRIM32, TSC1, TSC2, TTC21B, TTC8, TTR, UMOD, UPK3A, UPK3B, VHL, VIPAS39, VPS33B, WDPCP, WDR19, WDR35, WNT4, WT1, XPNPEP3, ZMPSTE24, ZNF423

Skeletal dysplasias and craniosynostoses

Genes: ALPL, ALX1, ALX3, ALX4, ASXL1, BMP4, CDC45, CYP26B1, DHODH, EFNB1, EFTUD2, ERF, ESCO2, FBN1, FGFR1, FGFR2, FGFR3, FREM1, GJA1, GLI3, IFT122, IFT140, IFT43, IHH, IL11RA, IMPAD1, IRX5, KRAS, MASP1, MEGF8, MSX2, P4HB, PEX7, PHF8, POLR1C, POLR1D, POR, RAB23, RECQL4, RSPRY1, RUNX2, SCARF2, SEC24D, SKI, SLC25A24, SMO, SOX9, TCF12, TCOF1, TGFBR1, TGFBR2, TMCO1, TWIST1, WDR19, WDR35, ZIC1

Osteogenesis imperfecta

Genes: BMP1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, CREB3L1, CRTAP, FKBP10, IFITM5, MBTPS2, P3H1, PPIB, SERPINF1, SERPINH1, SP7, SPARC, TENT5A, TMEM38B, WNT1

Connective Tissue

Telomere shortening disorders