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Nefroloji Paneli
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ACTN4, ATP6V0A4, ATP6V1B1, BSND, CD2AP, CLDN16, CLCN5, CLCNKA, CLCNKB, CTNS, KCNJ1, LAMB2, NPHP1, NPHS1, NPHS2, PLCE1, SLC12A1, SLC12A3, SLC4A1, TRPC6, WT1
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Periyodik Ateş Paneli
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MEFV, MVK, NLRP3, PSTPIP1, SERPING1, TNFRSF1A
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Polikistik Böbrek Paneli
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PKD1, PKD2, PKHD1
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Alport Paneli
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COL4A3, COL4A4, COL4A5
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Konjenital Diare Paneli
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ADAM17, CYP27A1, DGAT1, EPCAM, FOXP3, GUCY2C, IL10, IL10RA, IL10RB, IL21, LCT, LIPA, MVK, MYO5B, NCF2, NEUROG3, SAR1B, SI, SKIV2L, SLC5A1, SLC9A3, SLC10A2, SLC26A3, SPINT2, STX3, TTC7A, TTC37, XIAP
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Konjenital Nötropeni Paneli
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CSF3R, CXCR4, ELANE, G6PC3, GFI1, HAX1, JAGN1, RAC2, SBDS, VPS45, WAS
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Neonatal Kolestaz Paneli
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ABCB11, ABCB4, ABCC2, ABCG5, ABCG8, AKR1D1, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, CYP27A1, CYP7A1, CYP7B1, DGUOK, DHCR7, FAH, GALE, GALK1, GALT, HNF1B, HPD, HSD3B7, INVS, JAG1, LIPA, MKS1, MPV17, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKHD1, POLG, SERPINA1, SLC25A13, SLC27A5, SMPD1, TAT, TJP2, TMEM216, TRMU, UGT1A1, VIPAS39, VPS33B
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Obezite Paneli
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ADD1, ADIPOQ, ADRB2, ADRB3, AGRP, BDNF, CARTPT, CCK, CFD, DYRK1B, ENPP1, FTO, GHRL, GIPR, IRS1, LEP, LEPR, MC3R, MC4R, NAMPT, NEGR1, NPY, NR0B2, NTRK2, PCSK1, POMC, PPARG, PPARGC1A, PPARGC1B, PTPN1, PYY, RETN, SDC3, SH2B1, SIM1, SLC22A1, SLC2A4, SREBF1, TMEM18, UCP1, UCP3
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Rasopati Paneli
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BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PIK3CA, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1
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Hemokromatozis Paneli
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FTH1, HAMP, HFE, HJV, TFR2, SLC40A1
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MODY Paneli
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ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1
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Nörofibromatozis paneli
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NF1, NF2
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Epilepsi Paneli
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ACY1, ADSL, ALDH7A1, AMT, ARHGEF15, ARHGEF9, ARX, ASAH1, CACNA1H, CACNB4, CDKL5, CERS1, CHRNA2, CHRNA4, CHRNB2, CLCN2, CNTNAP2, CPA6, CPT2, CSTB, DEPDC5, DRD2, EFHC1, EPM2A, FOLR1, FOXG1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GCSH, GLDC, GOSR2, GRIN2A, GRIN2B, JRK, KCNJ10, KCNMA1, KCNQ2, KCNQ3, KCNT1, KCTD7, LGI1, MAPK10, MBD5, MECP2, MEF2C, MFSD8, MTHFR, MTOR, NEDD4L, NEU1, NHLRC1, NOL3,NRXN1, PCDH19, PIGA, PIGO, PIGV, PLCB1, PNKP, PNPO, POLG, PPT1, PRICKLE1, PRICKLE2, PRRT2, QARS, RBFOX1, RBFOX3, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, SAMHD1, SCARB2, SCN1A, SCN1B, SCN2A, SCN3A, SCN8A, SCN9A, SGCE, SLC13A5, SLC19A3, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC6A8, SLC9A6, SPTAN1, SRPX2, ST3GAL3, ST3GAL5, STXBP1, SYN1, SYNGAP1, SZT2, TBC1D24, TBCE, TCF4, TPP1, TREX1, TSC1, TSC2, UBE3A, WWOX, ZEB2
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Ataksi Paneli
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ABCB7, ABHD12, ABHD5, ACADVL, ATN1, ATP1A3, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, COQ8A, AFG3L2, ANO10, APTX, ATCAY, ATM, ATP2B3, BEAN1, C10orf2, CA8, CACNA1A, CACNA1G, CCDC88C, CWF19L1, DNMT1, EEF2, ELOVL4, ELOVL5, FGF12, FGF14, FXN, GRID2, GRM1, ITPR1, KCNC3, KCND3, NOP56, POLG, PDYN, PPP2R2B, PRKCG, RUBCN, SACS, SCA25, SETX, SIL1, SLC1A3, SPTBN2, STUB1, SYNE1, SYT14, TBP, TDP1, TGM6, TMEM240, TTPA, TPP1, TTBK2, TTPA, TUBB4A, VAMP1, VLDLR, WWOX, ZNF592, FRDA
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Metabolik Panel
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ABCD4, ACADM, ACADS, ACADSB, ACADVL, ACSF3, AGPAT2, AKT2, ALDH18A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, AMN, ARG1, ARSB, ASL, ASS1, B4GALT1, BSCL2, CAV1, CD320, COG1, COG4, COG5, COG6, COG7, OG8, CPS1, CPT1A, CPT2, CUBN, DOLK, DPAGT1, DPM1, DPM2, DPM3, ETFA, ETFB, ETFDH, GALNS, GIF, GLB1, GNS, GUSB, HADH, HADHA, HADHB, HCFC1, HGSNAT, HMGCL, HSD17B4, IDS, IDUA, LMBRD1, LMNA, LMNB2, MCEE, MGAT2, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOGS, MPDU1, MPI, MUT, NAGLU, NAGS, OAT, OTC, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PGM1, PMM2, PPARG, PTRF, RFT1, SGSH, SLC22A5, SLC25A13, SLC25A15, SLC25A20 ,SRD5A3, SUCLA2, SUCLG1, TBC1D4 ,ZMPSTE24
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Diğer Tek Gen Hastalıkları
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Marfan Sendromu (FBN1)
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Wilson Sendromu (ATP7B)
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Gilbert/Criggler Najjar Sendromu (UGT1A1)
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Akondroplazi/Hipokondroplazi (FGFR3)
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Rett Sendromu (MECP2)
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