NÖROLOJİ / KAS HASTALIKLARI

Kalıtsal Nörolojik Hastalık Paneli (549 Gen)

  • TEST KODU
    MGP00280
  • GEN ADI
    AAAS, ABCA12, ABCA3, ABCB11, ABCB4, ABCC8, ABCD1, ACAD9, ACADL, ACADM, ACADVL, ACAT1, ACOX1, ACSL4, ADA, ADAMTS13, ADAMTSL2, ADCK3, AFF2, AGL, AGPS, AGTR2, AHI1, AIRE, ALDH3A2, ALDH5A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALPL, ALS2, AMACR, AMT, ANTXR2, AP1S2, AP3B1, APTX, AR, ARHGEF6, ARHGEF9, ARSA, ARSB, ARSE, ARX, ASL, ASPA, ASS1, ATM, ATP6V0A2, ATP7A, ATP7B, ATP8B1, ATR, ATRX, AUH, B4GALT1, BCKDHA, BCKDHB, BCOR, BCS1L, BLM, BRWD3, BTD, BTK, C10orf2, CA2, CASK, CASP10, CBS, CD19, CD247, CD3D, CD3E, CD3G, CD40LG, CDH23, CDKL5, CEP290, CFP, CFTR, CHRNA1, CHRND, CHRNG, CLCN5, CLCN7, CLDN1, CLDN19, CLN3, CLN5, CLN6, CLN8, CLRN1, COG1, COG7, COG8, COL1A1, COL1A2, COL6A1, COL6A2, COL6A3, COL17A1, COL4A3, COL4A4, COL4A5, COL7A1, COQ2, COQ9, COX10, COX15, COX6B1, CPS1, CPT1A, CPT2, CRLF1, CRTAP, CSTB, CTNS, CTSD, CTSK, CUL4B, CYP11A1, CYP11B1, CYP17A1, CYP21A2, CYP27A1, CYP27B1, DBT, DCLRE1C, DCX, DDB2, DDC, DGUOK, DHCR24, DHCR7, DKC1, DLD, DLG3, DLL3, DMD, DMP1, DNAJC19, DNMT3B, DOCK8, DOK7, DOLK, DPAGT1, DPM1, DPYD, DSP, DYNC2H1, EDA, EDN3, EDNRB, EFEMP2, EFNB1, EGR2, EIF2AK3, ENPP1, EPM2A, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, F8, F9, FAH, FAM126A, FAM20C, FANCC, FAS, FASLG, FASTKD2, FBLN5, FERMT3, FGA, FGD1, FGD4, FH, FKRP, FKTN, FOLR1, FOXG1, FOXN1, FOXP3, FRAS1, FREM2, FTSJ1, FUCA1, G6PC, G6PC3, G6PD, GAA, GALC, GALK1, GALT, GAMT, GBA, GBE1, GCDH, GCSH, GDAP1, GDI1, GFM1, GJB2, GJC2, GLA, GLB1, GLDC, GLE1, GNPTAB, GNRHR, GPC3, GPR98, GRIK2, GSS, GTF2H5, GUSB, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBB, HESX1, HEXA, HEXB, HFE2, HGSNAT, HIBCH, HLCS, HMGCL, HPD, HPRT1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSPG2, HUWE1, ICOS, IDS, IDUA, IFNGR1, IFNGR2, IFT80, IGHMBP2, IKBKAP, IKBKG, IL12B, IL12RB1, IL1RAPL1, IL1RN, IL2RG, INSR, INVS, IQCB1, ITGA6, ITGB4, IVD, JAK3, KCNJ1, KDM5C, L1CAM, LAMA2, LAMA3, LAMB2, LAMB3, LAMC2, LARGE, LBR, LEPRE1, LHCGR, LHX3, LIFR, LIG4, LMNA, LRP2, LRPPRC, LYST, MAN2B1, MBTPS2, MCOLN1, MECP2, MED12, MEFV, MFSD8, MGAT2, MID1, MKS1, MLC1, MMAA, MMAB, MMACHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPL, MPV17, MPZ, MRPS16, MRPS22, MTM1, MUT, MVK, MYD88, MYO5A, MYO7A, NAGLU, NAGS, NBN, NDP, NDUFA1, NDUFA7, NDUFAF2, NDUFAF4, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NEB, NEU1, NEUROG3, NHEJ1, NHLRC1, NHS, NLGN4X, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NR5A1, NSD1, NSUN2, NTRK1, NUP62, NXF5, OCRL, OFD1, OPA3, OPHN1, ORAI1, OSTM1, OTC, OXCT1, PAH, PAK3, PANK2, PC, PCCA, PCCB, PCDH19, PDHA1, PDHX, PDP1, PDSS1, PDSS2, PEX1, PEX10, PEX12, PEX13, PEX26, PEX5, PEX7, PKHD1, PKLR, PLA2G6, PLCE1, PLEC, PLEKHG5, PLG, PLOD1, PLP1, PMM2, PMP22, PNPO, POLG, POMGNT1, POMT1, POMT2, POR, POU1F1, PPT1, PQBP1, PRF1, PROP1, PRPS1, PRSS12, PRX, PSAP, PTEN, PTH1R, PYGM, RAB23, RAB27A, RAB39B, RAB3GAP1, RAB3GAP2, RAG1, RAG2, RAPSN, RELN, RFT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RPGRIP1L, RPL10, RPS6KA3, RRM2B, SACS, SAMHD1, SBDS, SC5DL, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SEPN1, SFTPB, SFTPC, SGSH, SH2D1A, SHROOM4, SIL1, SLC12A1, SLC12A6, SLC16A2, SLC17A5, SLC22A5, SLC25A15, SLC25A20, SLC25A22, SLC26A2, SLC35A1, SLC35C1, SLC35D1, SLC37A4, SLC4A11, SLC6A8, SLC9A6, SMN1, SMPD1, SMS, SNAP29, SOX3, SP110, SRD5A2, SRD5A3, ST3GAL3, ST3GAL5, STAR, STAT1, STIM1, STRA6, STX11, STXBP2, SUCLA2, SUCLG1, SUOX, SURF1, SYP, TAT, TAZ, TBCE, TCF4, TCIRG1, TGM1, TH, TIMM8A, TK2, TLR3, TMEM67, TNFRSF11B, TPP1, TRAPPC9, TREX1, TRIM37, TSEN54, TSFM, TSHB, TSPYL1, TTPA, TUBA1A, TUFM, TUSC3, TYK2, TYMP, UBA1, UBE2A, UBE3A, UBR1, UNC13D, UNC93B1, UPF3B, UQCRB, UQCRQ, UROS, USH1C, USH1G, USH2A, VDR, VIPAR, VLDLR, VPS13B, VPS33B, WAS, WNT10A, WNT3, WNT7A, XIAP, XPA, XPC, ZDHHC9, ZEB2, ZIC3, ZMPSTE24, ZNF41, ZNF469, ZNF674, ZNF711
  • OMIM NUMARASI
  • KALITIM ŞEKLİ
    -
  • SİNONİM
    -
  • KLİNİK KULLANIM ALANI
    -
  • YÖNTEM
    Yeni Nesil Dizileme
  • NUMUNE ALIM VE TRANSPORT KOŞULLARI
    EDTA’lı tüp / Oda sıcaklığı
  • NUMUNE RED KRİTERİ
    Yanlış tüpe alınmış, dondurulmuş örnekler
  • MATERYAL TÜRÜ
    EDTA'lı Kan
  • MATERYAL MİKTARI
    3 mL
  • RAPORLAMA SÜRESİ
    40 GÜN
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Form Gönderimi

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