GC_19 Bronchiectasis
Bronchiectasis is a chronic airway disorder characterized by irreversible bronchial dilation, recurrent respiratory infections, impaired mucus clearance, and progressive lung damage. Hereditary bronchiectasis may result from abnormalities of mucociliary clearance, epithelial ion transport, immune function, or other pathways involved in airway defense.
This panel includes genes associated with the major genetic causes of bronchiectasis, including primary ciliary dyskinesia, cystic fibrosis and CFTR-related disorders, epithelial sodium-channel disorders, and selected primary immunodeficiencies.
This panel is recommended for patients with early-onset, familial, or otherwise unexplained bronchiectasis when more than one underlying disease mechanism is being considered. It is particularly appropriate when the phenotype may be compatible with primary ciliary dyskinesia but cystic fibrosis, immune deficiency, epithelial ion-transport disorders, or other hereditary causes of bronchiectasis also remain in the differential diagnosis. When the clinical and functional findings specifically indicate a motile ciliopathy, GC_24 – Primary Ciliary Dyskinesia Panel may be preferred.
Last update: 26.01.2026
AGPAT2, AGR2, AK7, ARHGEF1, BRWD1, C11ORF70, C21ORF59, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP164, CFAP221, CFAP298, CFAP300, CFAP52, CFAP54, CFAP57, CFAP74, CFTR, CLXN, DAW1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH6, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, INVS, LRRC56, LZTFL1, MCIDAS, NEK10, NFKB1, NFKB2, NME5, NME8, NOTCH2, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PIK3CD, PIK3R1, POLD1, RAG1, RAG2, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, SPEF2, STK36, TAPT1, TP73, TTC12, TUBB4B, WFDC2, ZMYND10
ClinVar P/LP variants (IDs) not covered: CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | DNAI1:[4526740] | OFD1:[375728]
GC_24 Primary ciliary dyskinesia
Primary ciliary dyskinesia (PCD) is an inherited disorder of motile cilia characterized by chronic sinopulmonary disease, recurrent respiratory infections, bronchiectasis, neonatal respiratory distress, and frequently laterality defects. Some individuals also develop infertility due to impaired motile cilia function.
This panel includes genes associated with abnormalities of motile ciliary structure, assembly, regulation, and function, including defects involving the dynein arms, radial spoke apparatus, nexin-dynein regulatory complex, and multiciliated-cell development. Representative genes include DNAH5, DNAH11, DNAI1, DNAAF genes, CCDC39, CCDC40, RSPH genes, CCNO, MCIDAS, and FOXJ1.
This panel is recommended for patients with a clinical presentation or functional testing suggestive of primary ciliary dyskinesia, such as chronic upper and lower respiratory disease, neonatal respiratory distress, laterality abnormalities, characteristic ciliary ultrastructural or functional findings, or persistently low nasal nitric oxide. It is the preferred targeted test when a motile ciliopathy is the primary diagnostic consideration rather than a broader range of hereditary causes of bronchiectasis.
Last update: 19.01.2026
AK7, C11ORF70, C21ORF59, CCDC103, CCDC39, CCDC40, CCDC65, CCNO, CENPF, CEP164, CFAP298, CFAP300, CFAP52, CFAP57, CFAP74, CFTR, CLXN, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, FOXJ1, GAS2L2, GAS8, HYDIN, INVS, LRRC56, LZTFL1, MCIDAS, NEK10, NME5, NME8, NOTCH2, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, SPEF2, STK36, TP73, TTC12, WFDC2, ZMYND10
ClinVar P/LP variants (IDs) not covered: CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | DNAI1:[4526740] | OFD1:[375728]
GC_25 Immune disorders
Primary immune disorders, also referred to as inborn errors of immunity, are inherited conditions affecting innate immunity, adaptive immunity, complement pathways, phagocyte function, immune regulation, or immune homeostasis. Clinical manifestations are highly variable and may include recurrent or severe infections, autoimmunity, autoinflammation, lymphoproliferation, cytopenias, severe allergy, and other manifestations of immune dysfunction.
This broad panel includes genes associated with the major categories of inborn errors of immunity, including combined immunodeficiencies, predominantly antibody deficiencies, complement defects, phagocytic disorders, immune dysregulation syndromes, autoinflammatory disorders, and syndromic immunodeficiencies.
This panel is recommended for patients with suspected inherited immune disease, particularly when the presentation is complex, multisystem, or does not clearly correspond to a single specific immunodeficiency or immune dysregulation syndrome.
Last update: 19.01.2026
11q23del, ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTB, ACTG1, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADAR1, ADGRE2, ADIPOQ, ADIPOR1, ADIPOR2, AGR2, AICDA, AIRE, AK2, AK7, ALAS2, ALG6, ALPI, ALPK1, ANGPT1, ANKRD11, ANKRD26, ANKZF1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ARPC5, ASAH1, ATAD3A, ATG4A, ATM, ATP6AP1, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BCO1, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRIP1, BTK, C1, C11ORF70, C15ORF41, C17ORF62, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C21ORF59, C2orf69, C3, C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CBLB, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNK, CCNO, CCR2, CD19, CD247, CD27, CD274, CD28, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDAN1, CDC42, CDCA7, CDK9, CDKN2A, CEBPA, CEBPE, CENPF, CEP164, CFAP298, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHEK2, CHUK, CIB1, CIITA, CLCN7, CLEC7A, CLPB, COG6, COL7A1, COLEC11, COPA, COPG1, CORO1A, CR2, CRACR2A, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CSFR2B, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYCS, CYP27A1, DBF4, DBR1, DCLRE1B, DCLRE1C, DDX11, DDX41, DDX58, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DRC1, DSG1, DTNBP1, DUOX2, DUT, EFL1, EIF2AK3, ELANE, ELF4, EP300, EPCAM, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ERN1, ETV6, EXTL3, F12, FAAP100, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGL2, FLG, FLI1, FLNA, FLT3LG, FMNL2, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FYB1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GBA, GCC2, GFI1, GFI1B, GIMAP5, GIMAP6, GINS1, GINS4, GLRX5, GMCSF, GNAI2, GNE, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GTF3A, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HMOX1, HNRNPK, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSPA1L, HSPA9, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFN, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFNs, IGHM, IGKC, IGLL1, IKBKB, IKBKE, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18BP, IL1R1, IL1RN, IL21, IL21R, IL23R, IL27, IL27RA, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7, IL7R, INO80, IPO8, IRAK1, IRAK4, IRF1, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2, ITGA2B, ITGAV, ITGB2, ITGB3, ITK, ITPKB, ITPR3, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KARS1, KAT6A, KCNA5, KDM1A, KDM6A, KIF23, KLF1, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LSM11, LY96, LYN, LYST, LZTR1, MAD2L2, MAGT1, MALT1, MAN2B1, MAN2B2, MANBA, MAP1LC3B2, MAP2K1, MAP2K2, MAP3K14, MAP3K8, MAP3K9, MAPK8, MASP1, MASP2, MASTL, MAT2A, MBL2, MCIDAS, MCM10, MCM4, MCTS1, MECOM, MEFV, MLH1, MLPH, MOGS, MPEG1, MPL, MPLKIP, MPO, MRAS, MRE11, MRTFA, MS4A1, MSH2, MSH6, MSN, MTHFD1, MTR, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NAF1, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NEUROG3, NF1, NFAT5, NFATC1, NFATC2, NFE2L2, NFIL3, NFKB1, NFKB2, NFKBIA, CONTENTS NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NOS2, NOTCH2, NPC1, NRAS, NSMCE2, NSMCE3, NUDCD3, NUP214, OAS1, OAS2, ODAD1, ODAD2, ODAD3, OFD1, ORAI1, OSTM1, OTUD6B, OTULIN, PALB2, PARN, PAX1, PAX5, PDCD1, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMVK, PNLIP, PNP, POLA1, POLD1, POLD2, POLD3, POLE, POLE1, POLE2, POLR3A, POLR3C, POLR3F, POMP, POT1, POU2AF1, PPP1CB, PRF1, PRG4, PRIM1, PRKACG, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, PTCRA, PTEN, PTPN11, PTPN2, PTPRC, PTX3, PUS1, QSOX2, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAF1, RAG1, RAG2, RANBP2, RAP1A, RAP1B, RASA2, RASGRP1, RBCK1, RBM8A, RC3H1, RECQL4, REL, RELA, RELB, REXO2, RFWD3, RFX5, RFXANK, RFXAP, RHBDF2, RHOG, RHOH, RIPK1, RIPK3, RIT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNF113A, RNF168, RNF31, RNU4ATAC, RNU7-1, RNU71, RORC, RPGR, RPL10, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL35A, RPL36, RPL5, RPL9, RPS10, RPS14, RPS15, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RRAS, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SASH3, SBDS, SBF2, SCGN, SCO2, SEC23B, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SH3KBP1, SHARPIN, SHOC2, SI, SIAE, SKIV2L, SLC10A2, SLC19A1, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC30A2, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLCO2A1, SLFN14, SLX4, SMARCAL1, SMARCD2, SNORA31, SNX10, SOCS1, SOS1, SOS2, SP110, SPAG1, SPI1, SPINK5, SPINT2, SPPL2A, SPRED1, SRC, SRP19, SRP54, SRP72, SRPRA, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, STXBP3, SYK, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TASP1, TBK1, TBX1, TBX2, TBX21, TCF3, TCIRG1, TCN2, TERC, TERF2, TERF2IP, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, THRA, THRB, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TLR4, TLR7, TLR8, TMC6, TMC8, TMEFF1, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TNFSF9, TONSL, TOP2B, TP53, TP63, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TSR2, TTC37, TTC7A, TUBB1, TYK2, UBA1, UBE2T, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1
ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | CHEK2:[2035246] | DNAI1:[4526740] | ETV6:[4020046] | GNE:[4068787] | HPS1:[4077138] | IL1RN:[14674] | LYST:[3602577] | MAN2B1:[3024226] | MSH2:[2453487] | NF1:[242478]; [3404745] | OFD1:[375728] | POT1:[3226648] | PTEN:[2587202] | RAD51C:[3228945]; [2625143]
GC_57 Autoinflammatory disorders
Monogenic autoinflammatory and immune dysregulation disorders are inherited immune conditions characterized by recurrent, persistent, or otherwise unexplained inflammation in the absence of infection. These disorders may result from excessive activation of innate immune pathways, impaired regulation of adaptive immunity, or both.
Clinical manifestations may include periodic or persistent fever, rash, serositis, inflammatory bowel disease, vasculitis, cytopenias, lymphoproliferation, autoimmunity, and other features of systemic immune dysregulation.
This targeted panel includes genes associated with autoinflammatory syndromes, interferonopathies, inflammasome disorders, immune dysregulation syndromes, and selected primary immunodeficiencies with prominent hyperinflammatory manifestations.
This panel is recommended for patients with recurrent unexplained systemic inflammation, periodic fever, early-onset or severe autoimmunity, lymphoproliferation, cytopenias, or other findings suggestive of an inherited immune dysregulation disorder, particularly after infectious causes have been excluded.
Last update: 11.01.2026
ACP5, ADA, ADA2, ADAM17, ADAR, ADAR1, AICDA, ALPI, ALPK1, ANKZF1, AP1S3, AP3B1, ARPC1B, ATAD3A, BACH2, BTK, C17ORF62, C2orf69, CARD11, CARD14, CARD8, CARMIL2, CD3G, CD40, CD40LG, CD55, CDC42, CEBPE, COPA, CTLA4, CYBA, CYBB, DCLRE1C, DDX58, DKC1, DNASE1L3, DNASE2, DOCK8, DPP9, DUOX2, ELANE, ELF4, FCHO1, FOXP3, G6PC3, GATA2, HAVCR2, HCK, ICOS, IFIH1, IKBKG, IL10, IL10RA, IL10RB, IL17RA, IL1R1, IL1RN, IL21, IL2RA, IL2RB, IL2RG, IL36RN, IL6ST, ISG15, ITCH, ITGB2, JAK1, LACC1, LIG4, LPIN2, LRBA, LSM11, LYN, LYST, MEFV, MVK, NCF2, NCF4, NCKAP1L, NFAT5, NFKB1, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, OAS1, OGFRL1, OTULIN, PDGFRA, PDGFRB, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PMVK, POLA1, POMP, PRF1, PRG4, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, RAB27A, RAG1, RAG2, RBCK1, RC3H1, RELA, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNU71, RTEL1, SAMHD1, SH2D1A, SH3BP2, SHARPIN, SI, SKIV2L, SLC29A3, SLC37A4, SLC7A7, SOCS1, STAT1, STAT2, STAT3, STAT4, STAT6, STIM1, STING1, STX11, STXBP2, SYK, TBK1, TGFB1, TGFBR1, TGFBR2, TLR8, TNFAIP3, TNFRSF1A, TREX1, TRIM22, TRNT1, TTC37, TTC7A, UBA1, UNC13D, USP18, WAS, XIAP, ZAP70, ZNF341
ClinVar P/LP variants (IDs) not covered: IL1RN:[14674] | LYST:[3602577]
GC_80 Periodic fever syndrome
Hereditary periodic fever syndromes are autoinflammatory disorders characterized predominantly by recurrent episodes of fever and systemic inflammation without an infectious cause. Clinical manifestations may include serositis, rash, arthritis, abdominal pain, oral ulcers, lymphadenopathy, and elevated inflammatory markers during attacks.
This panel includes genes associated with the major hereditary periodic fever syndromes, including familial Mediterranean fever, mevalonate kinase deficiency, TNF receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, deficiency of the IL-1 receptor antagonist, and related monogenic autoinflammatory disorders.
This panel is recommended for patients with recurrent unexplained fever and systemic inflammation after exclusion of common infectious and malignant causes, particularly when the clinical pattern suggests a hereditary periodic fever syndrome.
Last update: 07.01.2026
ADA2, APOA1, APOA2, APOC2, APOC3, ASAH1, ELANE, F12, FGA, GSN, IL1RN, IL36RN, LPIN2, LYZ, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, OSMR, OTULIN, POMP, PSMA3, PSMB4, PSMB8, PSMG2, PSTPIP1, SCO2, TNFAIP3, TNFRSF1A, TRNT1, TTR
ClinVar P/LP variants (IDs) not covered: IL1RN:[14674]