GENLER, TESTLER ve HASTALIKLAR İÇİN ARAMA

NÖROLOJİ / KAS HASTALIKLARI

Test Adı: Kalıtsal Nörolojik Hastalık Paneli (549 Gen)

GEN ADIAAAS, 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
TEST KODUMGT0340
OMIM NUMARASI-1
KALITIM ŞEKLİ-1
SİNONİM-1
KLİNİK KULLANIM ALANIÇoğu nörolojik hastalık kalıtsal olmasa da, Alzheimer hastalığı, epilepsi ve Parkinson hastalığı başta olmak üzere kalıtsal olarak aktarılan pek çok nörolojik hastalık bulunmaktadır. Kapsamlı kalıtsal nörolojik hastalık paneli kapsamında 549 gen incelenerek pek çok nörolojik hastalık tek bir panel ile taranabilmektedir.
YÖNTEMYeni Nesil Dizileme (NGS)
MATERYAL TÜRÜEDTA'lı Kan
MATERYAL MİKTARI3 mL
RAPORLAMA SÜRESİ40 GÜN

İlgili Hastalıklar

    Test

    Form Gönderimi

    Tamam

    Bizden Haberdar Olmak İçin;

    KVKK'na uygun olarak kullanıcı deneyiminizi iyileştirmek için çerezler kullanıyoruz. Sitemizi ziyaret etmekle çerez ve gizlilik politikamızı kabul etmiş sayılırsınız. Daha fazla bilgi edinmek için KVKK - Aydınlatma Metni'ni inceleyebilirsiniz.

    KABUL ET DAHA FAZLA BİLGİ