• Yarık Dudak / PaLate (Panel)

    BMP4, IRF6, MSX1, PVRL1, SUMO1, TP63


    Yaygın Değişken İmmün Yetmezliği (Panel)

    ICOS, NFKB2, TNFRSF13B, TNFRSF13C


    Yağ Asidi Oksidasyon Bozukluğu (Panel + Delesyon&Duplikasyon)

    ACAD9, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HSD17B10, PPARG, SLC22A5, SLC25A20, TAZ


    Yenidoğan Mitokondriyal Hepatopatiler (Panel)

    BCS1L, DGUOK, FAH, GFM1, HAMP, MPV17, NBAS, POLG, RRM2B, TFR2, TRMU


    Yağ Metabolizması Eksikliği (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi; 46 Gen+ mtDNA)

    ABCD1 (300371), ACACA (200350), ACAD9 (611103), ACADM (607008), ACADS (606885), ACADSB (600301), ACADVL (609575), ACAT1 (607809), ACAT2 (100678), ACOX1 (609751), ACOX2 (601641), ACP6 (611471), ACSF3 (614245), ACSL4 (300157), ALDH3A2 (609523), BAAT (602938), BTD (609019), CHKB (612395), CPT1A (600528), CPT1C (608846), CPT2 (600650), ECHS1 (602292), EHHADH (607037), ELOVL4 (605512), ELOVL5 (611805), GPD1 (138420), GPD2 (138430), HADH (601609), HADHA (600890), HADHB (143450), HLCS (609018), HMGCL (613898), HMGCS2 (600234), LIPE (151750), MLYCD (606761), OPA3 (606580), OXCT1 (601424), PNPLA2 (609059), PPARGC1B (608886), SCP2 (184755), SLC22A5 (603377), SLC25A20 (613698), SLC27A4 (604194), SLC33A1 (603690), TECR (610057), TMLHE (300777).


    Yumurtalık Kanser Paneli, Hedef Mutasyon

    BARD1, BRCA1, BRCA2, BRIP1, EPCAM, MLH1, MRE11A, MSH2, MSH6, NBN, PMS1, PMS2, RAD50, RAD51C, RAD51D, STK11, TP53