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Doenças Autossômicas Recessivas, Painel para Compatibilidade Genética para Casais |
Painel por Sequenciamento de Próxima Geração + Análise de Deleção/Duplicação |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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Colestase Intra-Hepática Progressiva Familiar (PFIC) |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCB4, ABCC2, ACTG2, ADA, ADK, AICDA, AKR1D1, ALDOB, ATP7B, ATP8B1, ATRX, BAAT, BTK, CC2D2A, CD3G, CD40LG, CDX1, CFTR, CLDN1, CLMP, COG7, COL7A1, CTLA4, CYBA, CYBB, CYP27A1, DCDC2, DCLRE1C, DES, DGUOK, DMD, DOCK8, EDN3, EDNRB, EPCAM, FAH, FAM58A, FANCB, FERMT1, FLNA, FOXF1, FOXP3, G6PC3, GALT, GBA, GBE1, GLI3, GUCY2C, HADHA, HNF1B, HPS1, HPS4, HPS6, HSD3B7, ICOS, IDS, IKBKG, IL10, IL10RA, IL10RB, IL2RA, IL2RG, INVS, ITGB2, JAG1, KIF1BP (KIAA1279), L1CAM, LIG4, LIPA, LRBA, MED12, MEFV, MID1, MNX1, MPI, MPV17, MVK, MYO5B, NCF1, NCF2, NOTCH2, NPC1, NPC2, NR1H4, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX6, PHOX2B, PIK3CD, POLG, PTEN, RAG1, RAG2, RECQL4, RET, RRM2B, RTEL1, SALL1, SAMD9, SCN11A, SH2D1A, SKIV2L, SLC25A13, SLC37A4, SMPD1, SOX10, STAT1, STAT3, STXBP2, TALDO1, TGFBR1, TGFBR2, TJP2, TMEM70, TRMU, TTC37, TTC7A, TYMP, UGT1A1, VIPAS39, VPS33B, WAS, XIAP, ZEB2. ZIC3 |
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Imunodeficiência Combinada Grave |
Painel por Sequenciamento de Próxima Geração |
ADA, AK2, CD3D, CD3E, CD247, DCLRE1C, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, STAT5B, STIM1, TBX1, ZAP70 |
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Painel para Detecção de Portadores Assintomáticos de Doenças Genéticas Frequentes em Judeus |
Painel por Sequenciamento de Próxima Geração |
ABCB11, ABCC8, ABCD1, ACAD9, ACADM, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, AGA, AGL, AGPS, AGXT, AIRE, ALDH3A2, ALDOB, ALG6, ALMS1, ALPL, AMT, AQP2, ARG1, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP6V1B1, ATP7A, ATP7B, ATRX, BBS1, BBS10, BBS12, BBS2, BCKDHA, BCKDHB, BCS1L, BLM, BSND, CAPN3, CBS, CDH23, CEP290, CERKL, CFTR, CHM, CHRNE, CIITA, CLN3, CLN5, CLN6, CLN8, CLRN1, CNGB3, COL27A1, COL4A3, COL4A4, COL4A5, COL7A1, CPS1, CPT1A, CPT2, CRB1, CTNS, CTSK, CYBA, CYBB, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP27A1, DBT, DCLRE1C, DHCR7, DHDDS, DLD, DMD, DNAH5, DNAI1, DNAI2, DYSF, EDA, EIF2B5, ELP1, EMD, ERCC6, ERCC8, ESCO2, ETFA, ETFDH, ETHE1, EVC, EVC2, EYS, F9, FAH, FAM161A, FANCA, FANCC, FANCG, FH, FKRP, FKTN, FMR1, G6PC, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GFM1, GJB1, GJB2, GLA, GLB1, GLDC, GLE1, GNE, GNPTAB, GNPTG, GNS, GRHPR, HADHA, HAX1, HBA1, HBA2, HBB, HEXA, HEXB, HGSNAT, HJV, HLCS, HMGCL, HOGA1, HPS1, HPS3, HSD17B4, HSD3B2, HYAL1, HYLS1, IDS, IDUA, IL2RG, IVD, KCNJ11, LAMA2, LAMA3 |
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Linfohistiocitose Hemofagocitica Familiar |
Painel por Sequenciamento de Próxima Geração |
ADA, AP3B1, BLOC1S6, BTK, CD27, IL2RA, IL2RG, ITK, LYST, MAGT1, MVK, PNP, PRF1, RAB27A, SH2D1A, SLC7A7, STX11, STXBP2, UNC13D, WAS, XIAP |
