Elenco analisi genetiche e modulistica
Totale 365 elementi
Patologia: Ipertermia maligna
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: RYR1, CACNA1S
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: RYR1, CACNA1S
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Ipoacusie isolate e sindromiche
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ARSG, ATP2B2, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME (DFNA5), HARS1 (HARS), HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1 (KARS), KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LOXL3, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX6, PJVK (DFNB59), PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2 (FAM65B), ROR1, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLC4A11, SLITRK6, SMPX, SNAI2, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TECTB, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK (C10ORF2), USH1C, USH1G (SANS), USH2A, WBP2, WFS1, WHRN (DFNB31)
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: ACTB, ACTG1, ADCY1, ADGRV1 (GPR98), AIFM1, ALMS1, ARSG, ATP2B2, ATP6V1B1, BDP1, BSND, CABP2, CACNA1D, CCDC50, CD164, CDC14A, CDH23, CEACAM16, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A3, COL4A4, COL4A5, COL4A6, COL9A1, COL9A2, CRYM, DCDC2, DIABLO, DIAPH1, DIAPH3, DMXL2, EDN3, EDNRB, ELMOD3, EPS8, EPS8L2, ERAL1, ESPN, ESRP1, ESRRB, EYA1, EYA4, FGF3, FOXI1, GAB1, GATA3, GIPC3, GJB2, GJB3, GJB6, GPRASP2, GPSM2, GRAP, GRHL2, GRXCR1, GRXCR2, GSDME (DFNA5), HARS1 (HARS), HARS2, HGF, HOMER2, HSD17B4, ILDR1, KARS1 (KARS), KCNE1, KCNJ10, KCNQ1, KCNQ4, KIT, KITLG, LARS2, LHFPL5, LMX1A, LOXHD1, LOXL3, LRTOMT, MARVELD2, MCM2, MET, MIR96, MITF, MPZL2, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NARS2, NLRP3, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX3, PCDH15, PDE1C, PDZD7, PEX1, PEX6, PJVK (DFNB59), PLS1, PNPT1, POU3F4, POU4F3, PPIP5K2, PRPS1, PTPRQ, RDX, REST, RIPOR2 (FAM65B), ROR1, S1PR2, SERPINB6, SIX1, SIX5, SLC17A8, SLC22A4, SLC26A4, SLC26A5, SLC44A4, SLC4A11, SLITRK6, SMPX, SNAI2, SOX10, SPNS2, STRC, SYNE4, TBC1D24, TECTA, TECTB, TIMM8A, TMC1, TMEM132E, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TRRAP, TSPEAR, TWNK (C10ORF2), USH1C, USH1G (SANS), USH2A, WBP2, WFS1, WHRN (DFNB31)
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Malattie ereditarie dell'asse ipotalamo ipofisi e condizioni correlate
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: lista dei geni disponibile su richiesta
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: lista dei geni disponibile su richiesta
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Immunodeficienze
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, AP3B1, AP3D1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C17ORF62, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CDK9, CEBPE, CECR1, CFB, CFD, CFP, CFTR, CIITA, CLCN7, CLPB, COG6, COLEC11, COPA, CORO1A, CR2, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYP27A1, DBR1, DCLRE1C, DDX58, DGAT1, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DSG1, EFL1, ELANE, EPG5, ERCC6L2, EXTL3, FADD, FANCA, FAS, FASLG, FCGR3A, FCHO1, FERMT3, FOXN1, FOXP3, G6PC3, GATA2, GFI1, GINS1, GUCY2C, HAX1, HELLS, HMOX1, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, IRAK4, IRF2BP2, IRF7, IRF8, ISG15, ITGB2, ITK, JAGN1, JAK1, JAK3, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NSMCE3, ORAI1, OTULIN, PARN , PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PNP, POLE2, POMP, PRF1, PRG4, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RECQL4, RELA , RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RLTPR, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SMARCAL1, SMARCD2, SP110, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, TGFB1, THBD, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, ALPI, AP3B1, AP3D1, ARHGEF1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BTK, C17ORF62, C1QA, C1QB, C1QC, C1S, C2, C3, C5, C6, C7, C8A, C8B, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CDK9, CEBPE, CECR1, CFB, CFD, CFP, CFTR, CIITA, CLCN7, CLPB, COG6, COLEC11, COPA, CORO1A, CR2, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, CYP27A1, DBR1, DCLRE1C, DDX58, DGAT1, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DSG1, EFL1, ELANE, EPG5, ERCC6L2, EXTL3, FADD, FANCA, FAS, FASLG, FCGR3A, FCHO1, FERMT3, FOXN1, FOXP3, G6PC3, GATA2, GFI1, GINS1, GUCY2C, HAX1, HELLS, HMOX1, HYOU1, ICOS, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RB, IL2RG, IL36RN, IL6R, IL6ST, IL7, IL7R, IRAK4, IRF2BP2, IRF7, IRF8, ISG15, ITGB2, ITK, JAGN1, JAK1, JAK3, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP1, MEFV, MKL1, MOGS, MRE11A, MSN, MTHFD1, MVK, MYD88, MYO5A, NBN, NCF1, NCF2, NCF4, NCSTN, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NSMCE3, ORAI1, OTULIN, PARN , PEPD, PGM3, PIK3CD, PIK3R1, PLCG2, PNP, POLE2, POMP, PRF1, PRG4, PRKCD, PRKDC, PSENEN, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RECQL4, RELA , RELB, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RLTPR, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SBDS, SEC61A1, SERPING1, SH2D1A, SLC29A3, SLC35C1, SLC39A7, SLC46A1, SMARCAL1, SMARCD2, SP110, SPINK5, SPPL2A, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5B, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TBX1, TCF3, TCN2, TERC, TERT, TFRC, TGFB1, THBD, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF1A, TNFRSF4, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, XIAP, ZAP70, ZBTB24, ZNF341
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Ipomagnesiemia
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, TRPM6
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: CLDN16, CLDN19, CNNM2, EGF, FXYD2, KCNA1, TRPM6
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Ittiosi isolate e sindromiche
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AARS, ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CLDN1, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GTF2H5, GJB2, GJB3, GJB4, GJB6, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MARS, MPLKIP, NIPAL4, PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, RNF113A, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AARS, ABCA12, ABHD5, AGPS, ALDH3A2, ALOX12B, ALOXE3, AP1S1, ARSE, CLDN1, CYP4F22, EBP, ELOVL4, ERCC2, ERCC3, FLG, GTF2H5, GJB2, GJB3, GJB4, GJB6, KRT1, KRT10, KRT2, KRT9, LIPN, LOR, MARS, MPLKIP, NIPAL4, PEX7, PHGDH, PHYH, PNPLA1, PNPLA2, POMP, PSAT1, RNF113A, SLC27A4, SNAP29, SPINK5, ST14, STS, TGM1, TGM5, VPS33B, ZMPSTE24
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Iperfenilalaninemie e condizioni correlate
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: DDC, DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: DDC, DNAJC12, GCH1, PAH, PCBD1, PTS, QDPR, SPR
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Infezioni broncopolmonari ricorrenti
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AGR2, BRWD1, CCDC39, CCNO, CFAP221, CFAP298, CFAP300, CFAP54, CFAP74, CFTR, CLXN, DAW1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH7, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DRC4, FOXJ1, GAS2L2, HYDIN, LRRC56, MCIDAS, NEK10, NFKB1, NFKB2, NME5, NME8, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PIK3CD, PIK3R1, RAG1, RAG2, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, STK36, TP73, TTC12, USB1, ZMYND10.
Note: compilare Modulo Clinico di Supporto alla Richiesta del Test Genetico. ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AGR2, BRWD1, CCDC39, CCNO, CFAP221, CFAP298, CFAP300, CFAP54, CFAP74, CFTR, CLXN, DAW1, DNAAF1, DNAAF11, DNAAF19, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH7, DNAH9, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DRC4, FOXJ1, GAS2L2, HYDIN, LRRC56, MCIDAS, NEK10, NFKB1, NFKB2, NME5, NME8, ODAD1, ODAD2, ODAD3, ODAD4, OFD1, PIK3CD, PIK3R1, RAG1, RAG2, RSPH1, RSPH3, RSPH4A, RSPH9, SCNN1A, SCNN1B, SCNN1G, SPAG1, STK36, TP73, TTC12, USB1, ZMYND10.
Note: compilare Modulo Clinico di Supporto alla Richiesta del Test Genetico. ALLEGARE RELAZIONE CLINICA
Patologia: Sindromi da iperaccrescimento
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AKT1, AKT2, AKT3, ASXL2, BRWD3, CCND2, CHD8, DIS3L2, DNMT3A, EED, EZH2, GPC3, GPC4, H1-4 (HIST1H1E), HEPACAM, MLC1, MTOR, NFIB, NFIX, NSD1, PIK3CA, PIK3R2, PTEN, PTPN11, RAF1, SOS1, STRADA, SUZ12, TBC1D7, TRIP12
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: AKT1, AKT2, AKT3, ASXL2, BRWD3, CCND2, CHD8, DIS3L2, DNMT3A, EED, EZH2, GPC3, GPC4, H1-4 (HIST1H1E), HEPACAM, MLC1, MTOR, NFIB, NFIX, NSD1, PIK3CA, PIK3R2, PTEN, PTPN11, RAF1, SOS1, STRADA, SUZ12, TBC1D7, TRIP12
Note: ALLEGARE RELAZIONE CLINICA
Patologia: Aciduria idossimetilglutarica
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: HMGCL
Note: ALLEGARE RELAZIONE CLINICA
Tecnica di analisi: Sequenziamento NGS
Geni analizzati: HMGCL
Note: ALLEGARE RELAZIONE CLINICA
Totale 365 elementi
Data di pubblicazione: 14 maggio 2026
Ultimo aggiornamento: 18 giugno 2026 17:32