• Lökodistrofi ve Peroksizom Biyogenez Bozuklukları (Panel)

    ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP


    Lökodistrofi ve Peroksizom Biyogenez Bozuklukları (Panel + Delesyon&Duplikasyon)

    ABCD1, AIMP1, ARSA, ASPA, BEST1, CSF1R, CYP27A1, DARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, FA2H, FAM126A, GALC, GFAP, GJC2, HEPACAM, HSPD1, MLC1, NDUFV1, NOTCH3, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR3A, POLR3B, PSAP, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, SDHA, SLC16A2, SOX10, SUMF1, TREM2, TREX1, HSD17B4, LMNB1, PEX11B, PHYH, SCP2, SDHAF1, TYROBP + MLPA (TREX1, PEX11B, PLP1, NOTCH3, BEST1, RNASEH2B, MLC1, SAMHD1, SDHAF1, LMNB1, RNASEH2A, SOX10, RNASEH2C, ASPA, SDHA, GALC, ABCD1)


    Lökodistrofi ve Peroksizom Biyogenez Bozuklukları (Delesyon&Duplikasyon)

    TREX1, PEX11B, PLP1, NOTCH3, BEST1, RNASEH2B, MLC1, SAMHD1, SDHAF1, LMNB1, RNASEH2A, SOX10, RNASEH2C, ASPA, SDHA, GALC, ABCD1


    Leber'in Konjenital Amarozu (Panel)

    AIPL1, CABP4, CEP290, CRB1, CRX, GUCY2D, IMPDH1, IQCB1, KCNJ13, LCA5, LRAT, NMNAT1, OTX2, RD3, RDH12, RPE65, RPGRIP1, SPATA7, TULP1


    Leber'in Konjenital Amarozu (Delesyon&Duplikasyon)

    RPE65, GUCY2D, CRX, RPGRIP1, IMPDH1, CEP290, LCA5, RDH12, AIPL1, CRB1


    Leber'in Herediter Optik Atrofisi (Panel)

    MT-ATP6, MT-CO1, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND4, MT-ND4L, MT-ND5, MT-ND6


    Leigh Sendromu ve Mitokondriyal Ensefalopati (Panel)

    ACAD9, COQ8A, AIFM1, APTX, ATPAF2, BCS1L, C10orf2, NDUFAF6, COQ2, COQ9, COX10, COX15, COX6B1, DARS2, DGUOK, DLAT, DLD, DNM1L, ETFDH, ETHE1, FASTKD2, FH, FOXRED1, GFER, GFM1, LRPPRC, MPV17, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFA13, NDUFAF1, NDUFAF2, NDUFAF4, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NUBPL, NDUFA12, NDUFA9, NDUFAF5, SDHA, PC, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, RARS2, SCO1, SCO2, SDHAF1, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TSFM, TTC19, TUFM, TYMP


    Leigh Sendromu ve Mitokondriyal Ensefalopati (Delesyon&Duplikasyon)

    TWNK, SDHAF1, SUCLA2, COX10, APTX, SUCLG1, MPV17, DGUOK, PDHA1, SDHA, FH, TK2


    Lipodistrofi (Panel)

    AGPAT2, BSCL2, CAV1, CIDEC, LIPE, LMNA, PIK3R1, PLIN1, PPARG, PTRF


    Lissensefali ve Beyin Malformasyonu (Panel)

    ACTB, ACTG1, ADGRG1, ARX, CDK5, COL6A1, COL6A2, COL6A3, DCX, DYNC1H1, EOMES, FKRP, FKTN, ISPD, KATNB1, KIF2A, KIF5C, LAMA2, LAMB1, LARGE, LMNA, NDE1, PAFAH1B1, POMGNT1, POMT1, POMT2, RELN, SEPN1, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, VLDLR, WDR62, YWHAE


    Lissensefali ve Beyin Malformasyonu (Delesyon&Duplikasyon)

    ARX, POMGNT1, DCX, LARGE, LAMA2, POMT1, FKRP, VLDLR, LMNA, POMT2, YWHAE, PAFAH1B1, FKTN


    Lizozomal Depo Hastalığı (Panel)

    ARSA, FUCA1, GALC, GBA, GLB1, GNPTAB, GUSB, HEXA, HEXB, MAN2B1, MANBA, NAGA, SMPD1


    Lizozomal Depo Hastalığı (Delesyon&Duplikasyon)

    IDS, GAA, GLA, NPC1, NPC2, HEXA, SMPD1, GALC


    Lysosomal Disease (NextGen Sequencing Panel and Copy Number Analysis; 72 Genes)

    ADAMTSL2 (612277), AGA (613228), ANTXR2 (608041), ARSA (607574), ARSB (611542), ASAH1 (613468), ATP13A2 (610513), ATP7A (300011), ATP7B (606882), CERS1 (606919), CLN3 (607042), CLN5 (608102), CLN6 (606725), CLN8 (607837), COL11A2 (120290), COL2A1 (120140), CTNS (606272), CTSA (613111), CTSC (602365), CTSD (116840), CTSF (603539), CTSK (601105), DHCR7 (602858), DNAJC5 (611203), DYM (607461), FUCA1 (612280), GAA (606800), GALC (606890), GALNS (612222), GBA (606463), GLA (300644), GLB1 (611458), GM2A (613109), GNE (603824), GNPTAB (607840), GNPTG (607838), GNS (607664), GPC3 (300037), GRN (138945), GUSB (611499), HEXA (606869), HEXB (606873), HGSNAT (610453), HRAS (190020), HYAL1 (607071), IDS (300823), IDUA (252800), KCTD7 (611725), KDM6A (300128), MLL2 (602113), LAMP2 (309060), LIPA (613497), LMBRD1 (612625), LYST (606897), MAN2B1 (609458), MANBA (609489), MCOLN1 (605248), MFSD8 (611124), NAGA (104170), NAGLU (609701), NEU1 (608272), NPC1 (607623), NPC2 (601015), PPT1 (600722), PSAP (176801), RAI1 (607642), SGSH (605270), SLC17A5 (604322), SMPD1 (607608), SUMF1 (607939), TCF4 (602272), TPP1 (607998).


    Limb-Girdle Musküler Distrofi (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 29 Gen)

    ANO5 (608662), CAPN3 (114240), CAV3 (601253), DES (125660), DMD (300377), DNAJB6 (611332), DYSF (603009), FKRP (606596), FKTN (607440), GMPPB (615320), HNRPDL (607137), ISPD (614631), LMNA (150330), MYOT (604103), PLEC (601282), PNPLA2 (609059), POMGNT1 (606822), SGK196 (615247), POMT1 (607423), POMT2 (607439), SGCA (600119), SGCB (600900), SGCD (601411), SGCG (608896), TCAP (604488), TNPO3 (610032), TOR1AIP1 (614512), TRIM32 (602290), TTN (188840).


    Leigh Hastalığı (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 74 Gen + mtDNA)

    AIFM1 (300169), ALDH5A1 (610045), ARX (300382), BCS1L (603647), C12orf65 (613541), COA5 (613920), COX10 (602125), C12ORF62 (614478), COX15 (603646), COX6B1 (124089), CPT2 (600650), DLAT (608770), DLD (238331), ETHE1 (608451), FARS2 (611592), FASTKD2 (612322), FBXL4 (605654), FOXRED1 (613622), GCDH (608801), KCNQ2 (602235), LIAS (607031), LRPPRC (607544), MTFMT (611766), MUT (609058), NDUFA1 (300078), NDUFA10 (603835), NDUFA11 (612638), NDUFA12 (614530), NDUFA2 (602137), NDUFA9 (603834), NDUFAF1 (606934), NDUFAF2 (609653), NDUFAF3 (612911), NDUFAF4 (611776), C20ORF7 (612360), C8ORF38 (612392), NDUFB3 (603839), NDUFS1 (157655), NDUFS2 (602985), NDUFS3 (603846), NDUFS4 (602694), NDUFS6 (603848), NDUFS7 (601825), NDUFS8 (602141), NDUFV1 (161015), NDUFV2 (600532), NUBPL (613621), PC (608786), PDHA1 (300502), PDHB (179060), PDHX (608769), PDP1 (605993), PDSS2 (610564), PNPT1 (610316), POLG (174763), SCO1 (603644), SCO2 (604272), SCP2 (184755), SDHA (600857), SDHAF1 (612848), SERAC1 (614725), SLC19A3 (606152), SLC25A19 (606521), SUCLA2 (603921), SUCLG1 (611224), SUOX (606887), SURF1 (185620), TACO1 (612958), TARS2 (612805), TLR3 (603029), TPK1 (606370), TTC19 (613814), UQCRB (191330), UQCRQ (612080).


    Left Ventricular Noncompaction Cardiomyopathy Syndromes (NextGen Sequencing Panel and Copy Number Analysis; 7 Genes)

    ACTC1 (102540), DTNA (601239), ITGA7 (600536), LDB3 (605906), MYH7 (160760), PRDM16 (605557), TNNT2 (191045).