• Erken Çocukluk Epileptik Ensefalopati (Panel)

    AARS, ALG13, ARHGEF9, ARV1, ARX, CACNA1A, CDKL5, DNM1, DOCK7, EEF1A2, FRRS1L, GABRA1, GABRB3, GNAO1, GRIN2B, GUF1, HCN1, ITPA, KCNA2, KCNB1, KCNQ2, KCNT1, NECAP1, PCDH19, PIGA, PLCB1, PNKP, SCN1A, SCN2A, SCN8A, SCN9A, SLC12A5, SLC13A5, SLC1A2, SLC25A12, SLC25A22, SLC35A2, SPTAN1, ST3GAL3, STXBP1, SZT2, TBC1D24, WWOX


    Erken Çocukluk Epileptik Ensefalopati (Delesyon&Duplikasyon)

    ARX, SCN1A, CDKL5, KCNQ2, PCDH19, GRIN2B, WWOX, CACNA1A, GABRB3


    Ehlers-Danlos Sendromu ve İlgili Bozukluklar (Panel)

    ADAMTS2, ATP7A, B3GALT6, B3GAT3, B4GALT7, CHST14, COL12A1, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, DSE, EFEMP2, ELN, FBLN5, FBN1, FKBP14, FLNA, GORAB, LTBP4, PLOD1, PRDM5, PYCR1, RIN2, SLC39A13, TNXB, ZNF469


    Ehlers-Danlos Sendromu ve İlgili Bozukluklar (Delesyon&Duplikasyon)

    ELN, FBN1, COL1A1, FLNA, TNXB, COL5A1, PLOD1, COL1A2, COL3A1, ATP7A


    Epidermolizis Bülloza (Panel)

    CHST8, COL17A1, COL7A1, CSTA, DSG1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KRT14, KRT5, LAMA3, LAMB3, LAMC2, MMP1, PKP1, PLEC, TGM5


    Epilepsi (kısmi) Kalıtsal (Panel)

    CACNA1H, CACNB4, CHRNA2, CHRNA4, CHRNB2, CLCN2, CPA6, DEPDC5, EFHC1, GABRA1, GABRB3, GABRD, GABRG2, JRK, KCNMA1, KCNQ2, KCNQ3, KCNT1, LGI1, MT-ATP6, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC2A1, SRPX2


    Epilepsi (kısmi) Kalıtsal (Delesyon&Duplikasyon)

    SCN1A, LGI1, KCNQ3, KCNQ2, CHRNA4, CHRNB2, SLC2A1, GABRB3


    Epileptik Ensefalopati (Panel)

    ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2


    Epileptik Ensefalopati (Delesyon&Duplikasyon)

    GRIN2B, ARX, AMT, SCN1A, RNASEH2A, TREX1, MECP2, ZEB2, FOXG1, KCNQ2, RNASEH2C, GCSH, TCF4, RNASEH2B, UBE3A, GLDC, CDKL5, SAMHD1, NRXN1, SLC2A1, MTHFR, PCDH19, GRIN2A


    Episodik Ataksi (Panel)

    CACNA1A, CACNB4, KCNA1, SLC1A3


    Erkek İnfertilitesi (Panel)

    AR, CATSPER1, CFTR, FSHR, LHCGR


    Epileptik Ensefalopati (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 137 Gen)

    AARS (601065), ABAT (137150), ACY1 (104620), ALDH7A1 (107323), ALG13 (300776), AMACR (604489), AMT (238310), ARHGEF9 (300429), ARX (300382), ASNS (108370), ASXL2 (612991), ATP5A1 (164360), BCL11B (606558), BOLA3 (613183), BSCL2 (606158), C10ORF2 (606075), CACNA1A (601011), CACNA2D2 (607082), CAD (114010), CARS2 (612800), CDKL5 (300203), CHD2 (602119), CLP1 (608757), COG7 (606978), COG8 (606979), COQ2 (609825), COQ4 (612898), COQ9 (612837), CPT1A (600528), CPT2 (600650), D2HGDH (609186), DENND5A (617278), DGUOK (601465), DLD (238331), DNM1 (602377), DNM1L (603850), DOCK7 (615730), DPYS (613326), EEF1A2 (602959), EIF2B1 (606686), EIF2B2 (606454), EIF2B3 (606273), EIF2B4 (606687), EIF2B5 (603945), ETHE1 (608451), FARS2 (611592), FASTKD2 (612322), FBXL4 (605654), FGF12 (601513), FH (136850), FKTN (607440), FOLR1 (136430), FOXG1 (164874), FOXRED1 (613622), C9ORF4 (604574), GABRA1 (137160), GABRB3 (137192), GCDH (608801), GCK (138079), GCSH (238330), GFM1 (606639), GLDC (238300), GLUL (138290), GNAO1 (139311), GRIN1 (138249), GRIN2A (138253), GRIN2B (138252), GRIN2D (602717), GUF1 (617064), HADH (601609), HCFC1 (300019), HCN1 (602780), IBA57 (615316), IER3IP1 (609382), ITPA (147520), KCNB1 (600397), KCNQ2 (602235), KCNQ3 (602232), KCNT1 (608167), L2HGDH (609584), LAMB1 (150240), LIAS (607031), MECP2 (300005), MEF2C (600662), MLC1 (605908), MOCS1 (603707), MOCS2 (603708), MRPS22 (605810), APOA1BP (608862), NECAP1 (611623), NPRL3 (600928), NRXN1 (600565), OCLN (602876), PDSS2 (610564), PHGDH (606879), PIGA (311770), PIGO (614730), PIK3R2 (603157), PLCB1 (607120), PNPO (603287), POLG (174763), PURA (600473), RMND1 (614917), ROGDI (614574), SCN1A (182389), SCN1B (600235), SCN2A (182390), SCN3A (182391), SCN8A (600702), SERPINI1 (602445), SLC13A5 (608305), SLC19A3 (606152), SLC1A2 (600300), SLC25A1 (190315), SLC25A12 (603667), SLC25A22 (609302), SLC35A2 (314375), SLC6A9 (601019), SLC9A6 (300231), SMC1A (300040), SON (182465), SPR (182125), SPTAN1 (182810), ST3GAL3 (606494), ST3GAL5 (604402), STXBP1 (602926), SUCLA2 (603921), SYNGAP1 (603384), SZT2 (615463), TBC1D24 (613577), TBCD (604649), TMTC3 (617218), TREX1 (606609), TSC1 (605284), TSC2 (191092), TSFM (604723), WWOX (605131).


    Emery-Dreifuss Musküler Distrofisi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 8 Gen)

    DMD (300377), EMD (300384), FHL1 (300163), LMNA (150330), SYNE1 (608441), SYNE2 (608442), TMEM43 (612048), TTN (188840).


    Ehlers Danlos, Ehlers Danlos Benzeri Sendromlar ve Anevrizma Sendromları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 46 Gen)

    ABCC6 (603234), ACTA2 (102620), ADAMTS2 (604539), ALDH18A1 (138250), ATP6V0A2 (611716), B3GALT6 (615291), B4GALT7 (604327), CHST14 (608429), COG7 (606978), COL1A1 (120150), COL1A2 (120160), COL3A1 (120180), COL4A1 (120130), COL5A1 (120215), COL5A2 (120190), DOCK8 (611432), EFEMP2 (604633), ELN (130160), ENG (131195), FBLN5 (604580), FBN1 (134797), FKBP14 (614505), GAA (606800), JAG1 (601920), LTBP4 (604710), MED12 (300188), MYH11 (160745), MYLK (600922), NF1 (613113), NOTCH1 (190198), PKD1 (601313), PKD2 (173910), PLOD1 (153454), PLOD3 (603066), PRKG1 (176894), PYCR1 (179035), RNF213 (613768), SAMHD1 (606754), SLC2A10 (606145), SLC39A13 (608735), SMAD3 (603109), SRCAP (611421), TGFB2 (190220), TGFBR1 (190181), TGFBR2 (190182), TNXB (600985).