• Primer Silyer Diskinezi (Panel)

    DNAI1, DNAAF2, DNAAF3, DNAAF5, DNAH5, HYDIN, NME8, DNAH11, DNAI2, RSPH4A, RSPH9, DNAAF1, CCDC39, CCDC40, DNAL1, CCDC103, LRRC6, CCDC114


    Progresif Eksternal Oftalmopleji (Panel)

    DGUOK, DNA2, OPA1, POLG, POLG2, RRM2B, SLC25A4, TK2, TWNK, TYMP


    Progresif Eksternal Oftalmopleji (Delesyon&Duplikasyon)

    TWNK, POLG2, RRM2B, POLG, OPA1, SLC25A4, DGUOK, TK2


    Pankreatit (Panel)

    CFTR, CPA1, CTRC, PRSS1, SPINK1


    Pankreatit (Delesyon&Duplikasyon)

    SPINK1, CFTR, PRSS1


    Parkinson Hastalığı (Panel)

    ATP13A2, ATP1A3, ATP6AP2, DCTN1, DNAJC6, FBXO7, FTL, FUS, GBA, GCH1, GIGYF2, HTRA2, LRRK2, MAPT, PARK2, PARK7, PINK1, PLA2G6, PRKRA, SLC30A10, SLC6A3, SNCA, SNCB, SPR, SYNJ1, TAF1, TH, TMEM230, UCHL1, VPS35


    Parkinson Hastalığı (Delesyon&Duplikasyon)

    PRKRA, ATP1A3, GCH1, UCHL1, TH, MAPT, PLA2G6, PINK1, ATP13A2, PARK7, LRRK2, SNCA, PARK2


    Periyodik Ateş Sendromu (Panel)

    ELANE, LPIN2, MEFV, MVK, NLRP3, PSTPIP1, TNFRSF1A


    Polikistik Böbrek (Panel)

    BICC1, PKD1, PKD2, NOTCH2, PKHD1


    Pontoserebellar Hipoplazi (Panel)

    CASK, TSEN2, TSEN34, TSEN54, OPHN1, RARS2, VRK1, EXOSC3, CHMP1A


    Primer Antikor Eksikliği (Panel)

    ADA, AICDA, ATM, BLNK, BTK, CD19, CD40, CD40LG, CD79A, CD79B, CD81, CR2, DCLRE1C, ICOS, IGHM, IGLL1, IKBKG, IL2RG, LRBA, LRRC8A, MS4A1, NCF1, NFKB2, NFKBIA, PIK3CD, PIK3R1, PLCG2, PRKDC, PTPRC, RAG1, RAG2, SH2D1A, TNFRSF13B, TNFRSF13C, UNG, XIAP


    Primer Antikor Eksikliği (Delesyon&Duplikasyon)

    XIAP, RAG2, SH2D1A, ATM, PLCG2, DCLRE1C, BTK


    Psödohipoaldosteronizm (Panel)

    CUL3, HSD11B2, KLHL3, NR3C2, SCNN1A, SCNN1B, SCNN1G, WNK1, WNK4


    Pulmoner Hipertansiyon (Panel)

    ACVRL1, BMPR1B, BMPR2, CAV1, EIF2AK4, ENG, FOXF1, GDF2, KCNA5, KCNK3, SMAD9


    Piruvat Metabolizma Bozuklukları (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;14 Gen + mtDNA)

    BTD (609019), DLAT (608770), DLD (238331), HLCS (609018), LDHB (150100), LIAS (607031), LIPT1 (610284), PC (608786), PDHA1 (300502), PDHB (179060), PDHX (608769), PDK3 (602526), PDP1 (605993), SLC19A3 (606152).


    Primer Distoni (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;20 Gen)

    ADAR (146920), ALS2 (606352), ATP1A3 (182350), BICD2 (609797), DPYS (613326), DRD5 (126453), DYNC1H1 (600112), GCH1 (600225), PNKD (609023), PRKRA (603424), SGCE (604149), SLC2A1 (138140), SLC30A10 (611146), SLC39A14 (608736), SLC6A3 (126455), SPR (182125), TAF1 (313650), THAP1 (609520), TOR1A (605204), TUBB4 (602662).


    Porphyria Disorders (NextGen Sequencing Panel and Copy Number Analysis; 11 Genes)

    ALAD (125270), ALAS2 (301300), C15ORF41 (615626), CPOX (612732), FECH (612386), HFE (613609), HMBS (609806), PPOX (600923), SLC19A2 (603941), URod (613521), UROS (606938).


    Peroksizomal Hastalık (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;32 Gen)

    ABCD1 (300371), ABCD3 (170995), ACOX1 (609751), AGPS (603051), AGXT (604285), AMACR (NA), CAT (115500), DNM1L (603850), EBP (300205), EHHADH (607037), GNPAT (602744), GRHPR (604296), HSD17B4 (601860), PEX1 (602136), PEX10 (602859), PEX11B (614920), PEX12 (601758), PEX13 (601789), PEX14 (601791), PEX16 (603360), PEX19 (600279), PEX2 (266510), PEX26 (608666), PEX3 (603164), PEX5 (600414), PEX6 (601498), PEX7 (601757), PHYH (602026), SCP2 (184755), C7orf10 (609187), TPO (606765), TRIM37 (605073).


    PDH/Tricarboxylic Acid Cycle (TCA) Defects (NextGen Sequencing Panel and Copy Number Analysis; 23 Genes + mtDNA)

    ACO2 (100850), BTD (609019), DLAT (608770), DLD (238331), FH (136850), HLCS (609018), IDH1 (147700), IDH2 (147650), IDH3B (604526), LDHB (150100), LIAS (607031), LIPT1 (610284), MDH2 (154100), BRP44L (614738), OGDH (613022), PC (608786), PDHA1 (300502), PDHB (179060), PDHX (608769), PDK3 (300906), PDP1 (605993), SLC19A3 (606152), SUCLA2 (603921).


    Parkinson Hastalığı / Parkinsonizm (Yeni Nesil Dizileme Paneli ve Kopya Sayısı Varyasyon Analizi;75 Gen)

    ADH1C (103730), AFG3L2 (604581), APOE (107741), APP (104760), ATP13A2 (610513), ATP1A3 (182350), ATXN2 (601517), C10ORF2 (606075), C19orf12 (614297), C9orf72 (614260), CHCHD10 (615903), CLN3 (607042), CP (117700), CSF1R (164770), CYP2D6 (124030), DCAF17 (612515), DCTN1 (601143), DDC (107930), DNAJC12 (606060), DNAJC5 (611203), DNAJC6 (608375), EIF4G1 (600495), ERCC8 (609412), FBXO7 (605648), FMR1 (309550), FTL (134790), GBA (606463), GBA2 (609471), GCH1 (600225), GIGYF2 (612003), GRN (138945), HTRA2 (606441), KIF1C (603060), KIF5A (602821), LRRK2 (609007), LYST (606897), MAPT (157140), MCCC1 (609010), MECP2 (300005), MICU1 (605084), MPV17 (137960), APOA1BP (608862), NPC1 (607623), PARK2 (602544), PARK7 (602533), PDGFB (190040), PDGFRB (173410), PINK1 (608309), PITX3 (602669), PLA2G6 (603604), POLG (174763), PRKRA (603424), PRNP (176640), PSEN1 (104311), PTEN (601728), PTS (612719), QDPR (612676), SETD1A (611052), SLC20A2 (158378), SLC6A3 (126455), SMPD1 (607608), SNCA (163890), SNCB (602569), SNORD118 (616663), SPG11 (610844), SPR (182125), STX1B (601485), SYNJ1 (604297), TAF1 (313650), TARDBP (605078), TBP (600075), TH (191290), UCHL1 (191342), VPS35 (601501), WDR45 (300526).


    Pankreas Kanser Paneli, Hedef Mutasyon

    APC, ATM, BMPR1A, CDKN2A, EPCAM, MLH1, MSH2, MSH6, PALB2, PMS1, PMS2, PRSS1, SMAD4, STK11


    PGL / PCC / GIST Panel, Hedef Mutasyon

    GDNF, KIF1B, MAX, MEN1, NF1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TMEM127, TP53, VHL


    Prostat Kanseri Paneli

    BRCA1, BRCA2, CHEK2, HOXB13, MLH1, MSH2, MSH6, NBN, PTEN, TP53