Genetik Hastalıklar Tanı Merkezi

Nefroloji Paneli

ACTN4, ATP6V0A4, ATP6V1B1, BSND, CD2AP, CLDN16, CLCN5, CLCNKA, CLCNKB, CTNS, KCNJ1, LAMB2, NPHP1, NPHS1, NPHS2, PLCE1, SLC12A1, SLC12A3, SLC4A1, TRPC6, WT1

Periyodik Ateş Paneli

MEFV, MVK, NLRP3, PSTPIP1, SERPING1, TNFRSF1A

Polikistik Böbrek Paneli

PKD1, PKD2, PKHD1

Alport Paneli

COL4A3, COL4A4, COL4A5

Konjenital Diare Paneli

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

Konjenital Nötropeni   Paneli

CSF3R, CXCR4, ELANE, G6PC3, GFI1, HAX1, JAGN1, RAC2, SBDS, VPS45, WAS

Neonatal Kolestaz Paneli

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 

Obezite Paneli

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

Rasopati Paneli

BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NRAS, PIK3CA, PTPN11, RAF1, RASA1, RIT1, SHOC2, SOS1, SOS2, SPRED1

Hemokromatozis Paneli

FTH1, HAMP, HFE, HJV, TFR2, SLC40A1

MODY Paneli

ABCC8, APPL1, BLK, CEL, GCK, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, PAX4, PDX1

Nörofibromatozis paneli

NF1, NF2

Epilepsi Paneli

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

Ataksi Paneli

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

Metabolik Panel

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

Diğer Tek Gen Hastalıkları

Marfan Sendromu (FBN1)

Wilson Sendromu (ATP7B)

Gilbert/Criggler Najjar Sendromu (UGT1A1)

Akondroplazi/Hipokondroplazi (FGFR3)

Rett Sendromu (MECP2)