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NGS analysis - Autoinflammatory diseases including periodic fever syndrome
Gene: ACP5, ADA2, ELANE, IL1RN, LPIN2, MEFV, MVK, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, PLCG2, PSMB8, PSTPIP1, TMEM173, TNFAIP3, TNFRSF1A, TRNT1
NGS analysis - Bardet-Biedl syndrome
Gene: ALMS1, ARL6, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP19, CPE, IFT172, IFT27, LZTF1, MKKS, MKS1, PNPLA6, SCAPER, SDCCAG8, TRIM32, TTC8, WDPCP
NGS analysis - Ataxia
Gene: AAAS, ABCB7, ABHD12, ACO2, ADGRG1, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG8, AMACR, ANO10, AP1S2, APTX, ARL3, ARSA, ATCAY, ATM, ATP1A2, ATP1A3, ATP13A2, ATP2B3, ATP8A2, B9D1, B9D2, BSCL2, BTD, C12orf65, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CAPN1, CASK, CC2D2A, CCDC88C, CEP120, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COG5, COG8, COQ2, COQ8A, COX20, CP, CSPP1, CSTB, CWF19L1, CYP27A1, CYP7B1, DAB1, DARS2, DKC1, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DPM1, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, FA2H, FAT2, FBXL4, FGF14, FLVCR1, FMR1, FTL, FXN, GALC, GBA2, GFAP, GJB1, GJC2, GOSR2, GRID2, GRM1, HARS2, HEPACAM, HEXA, HEXB, HIBCH, HSD17B4, IFRD1, INPP5E, ITM2B, ITPR1, KCNA1, KCNA2, KCND3, KCNJ10, KCNMA1, KIF1A, KIF1C, KIF7, L2HGDH, LAMA1, LARS2, LMNB1, LRPPRC, MAN2B1, MARS2, MKS1, MLC1, MMACHC, MME, MRE11, MTFMT, MTPAP, MTTP, NDUFS2, NDUFS7, NDUFV1, NHLRC1, NKX2-1, NOL3, NPC1, NPC2, NPHP1, NUBPL, OFD1, OPA1, OPA3, OPHN1, PAX6, PCNA, PDE6D, PDHX, PDSS2, PDYN, PEX10, PEX16, PEX2, PEX6, PEX7, PGM3, PHYH, PIK3R5, PLA2G6, PLD3, PLP1, PMM2, PNKP, PNPLA6, POLG, POLR3A, POLR3B, PRICKLE1, PRKCG, PRNP, PRRT2, PTF1A, PTRH2, RFC1, RNF170, RNF216, RORA, RPGRIP1L, RRM2B, RUBCN, SACS, SCN2A, SCN8A, SETX, SIL1, SLC1A3, SLC16A2, SLC17A5, SLC2A1, SLC20A2, SLC25A46, SLC35A1, SLC52A2, SLC6A19, SLC9A1, SLC9A6, SNX14, SPAST, SPG11, SPG7, SPTBN2, SQSTM1, SRD5A3, STUB1, SUFU, SYNE1, SYNGAP1, SYT14, TBC1D23, TCTN1, TCTN3, TDP1, TDP2, TGM6, TINF2, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRPC3, TSFM, TTBK2, TTC19, TTPA, TUBB2B, TUBB4A, TWNK, TXN2, UBTF, UCHL1, VAMP1, VLDLR, VRK1, VWA3B, WASHC5, WDR73, WDR81, WFS1, WWOX, XRCC1, ZFYVE26, ZNF423
NGS analysis - Aortopathy
Gene: ABL1, ACTA2, ADAMTSL4, ATP7A, BGN, CBS, COL3A1, COL4A5, EFEMP2, ELN, FBN1, FBN2, FLNA, FOXE3, HCN4, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2
NGS analysis - Arthrogryposis
Gene: ACTA1, ADCY6, AGRN, ALG14, ALG2, ALG3, BICD2, BIN1, CACNA1E, CNTN1, CNTNAP1, COASY, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, DHCR24, DNM2, DOK7, DPAGT1, DYNC1H1, ECEL1, ERBB3, ERCC1, ERCC5, ERCC6, ERCC8, EXOSC3, FBN1, FBN2, FKBP10, FKRP, FKTN, FLVCR2, GBA, GBE1, GFM2, GFPT1, GLE, GMPPB, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CHUK, IGF1, IGHMBP2, KAT6B, KBTBD13, KIAA1109, KLHL40, KLHL41, KLHL7, LGI4, LMNA, LMOD3, MAGEL2, MPZ, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH8, NALCN, NEB, PI4KA, PIEZO2, PIP5K1C, PLOD2, PMM2, POMGNT1, PPP3CA, RAPSN, RARS2, RIPK4, RYR1, SCN4A, SCO2, SKI, SLC25A1, SLC35A3, SLC39A13, SLC5A7, SLC6A9, SNAP25, SOX10, SYNE1, SYT2, TGFB3, TK2, TNNI2, TNNT1, TNNT3, TOR1A, TPM2, TPM3, TRPV4, TSEN2, TUBB2B, UBA1, VIPAS39, VPS33B, VRK1, ZBTB42, ZC4H2
NGS analysis - Arrhythmias
Gene: AKAP9, ANK2, CACNA1C, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, FLNC, GJA5, GLA, GPD1L, HCN4, JUP, KCNA5, KCND3, KCNE1, KCNE2, KCNE3, KCNE5, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LAMP2, LDB3, LMNA, MYH6, MYH7, NKX2-5, NPPA, PKP2, PRKAG2, RANGRF, RYR2, SCN1B, SCN2B, SCN3B, SCN4B, SCN5A, SCN10A, SEMA3A, SLMAP, SNTA1, TGFB3, TMEM43, TNNI3K, TRDN, TRPM4, TTR
NGS analysis - Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Gene: ANK2, CDH2, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LDB3, LMNA, PKP2, RYR2, SCN5A, TGFB3, TMEM43, TTN
NGS analysis - Achromatopsia
Gene: ATF6, CNGA3, CNGB3, GNAT2, PDE6C, PDE6H
NGS analysis - Albinism
Gene: AP3B1, AP3D1, BLOC1S3, BLOC1S6, CACNA1F, C10ORF11, DTNBP1, EDN3, EDNRB, GNAI3, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, KIT, LYST, MC1R, MITF, MLHP, MYO5A, OCA2, PAX3, RAB27A, SLC24A5, SLC38A8, SLC45A2, SNAI2, TYR, TYRP1
NGS analysis - Amyotrophic lateral sclerosis
Gene: ALS2, ANG, ANXA11, CHCHD10, CHMP2B, DAO, ERBB4, FIG4, FUS, GBE1, HEXA, HNRNPA1, HNRNPA2B1, MAPT, MATR3, OPTN, PFN1, PSEN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPART, SPG11, SQSTM1, TARDBP, TBK1, TFG, TUBA4A, UBQLN2, VAPB, VCP
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