Prehľadávať katalóg:
-
Deficit pyruvátkinázy
Gen: PKLR -
Deficit pyruvátkinázy
Gen: PKLR_MLPA -
Deficit pyrimidin 5-nukleotidázy
Gen: NT5C3A -
Deficit proteínu S
Gen: PROS1 -
Deficit proteínu S
Gen: PROS1_MLPA -
Deficit proteínu C
Gen: PROC -
Dystónie
Gen: AARS, ABAT, ACOX1, ACSF3, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ALDH6A1, ANO3, AP3D1, ARSA, ARV1, ARX, ATM, ATP7B, ATP13A2, ATP1A2, ATP1A3, BCAP31, CACNA1A, CACNA1B, CACNA1G, CIZ1, CLCN1, CLN3, CLN6, COASY, COL6A3, CP, CYP27A1, DCAF17, DDC, DLAT, DRD2, DRD5, EARS2, ECHS1, FA2H, FASTKD2, FOXG1, FTL, FUCA1, GAMT, GBA, GCDH, GCH1, GM2A, GNAL, GNAO1, GRN, HEXA, HPCA, HPRT1, HTRA2, KCNA1, KCNA4, KCNMA1, KCNQ2, L2HGDH, MAPT, MARS2, MAT1A, MCEE, MCOLN1, MECP2, MED20, MMADHC, MPV17, NDUFA12, NPC1, NPC2, PANK2, PARK2, PDE10A, PDGFB, PDGFRB, PDHX, PINK1, PLA2G6, PLP1, PNKD, PNKP, PNPT1, POLG, POLR3B, PRKCG, PRKRA, PRRT2, PTS, RNASEH2C, SCN4A, SCP2, SDHAF1, SERAC1, SGCE, SLC16A2, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC6A3, SNCA, SPR, SQSTM1, SUCLA2, SUOX, SYNJ1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TREX1, TUBB4A, UBTF, VPS13A, WDR45, WDR73, YY1 -
Dilatačná kardiomyopatia
Gen: ACTC1, ACTN2, BAG3, DES, DSG2, DSP, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYPN, NEXN, PLN, RBM20, SCN5A, SGCD, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL -
Deficit MCAD
Gen: ACADM -
Deficit MCAD
Gen: ACADM_MLPA