Test Bilgileri
Numune Alınma Şekli
Anamnez&Onam formu doldurulması zorunludur.
Stabilite Özellikleri
2-8 °C de 2 gün
Numune Red Kriterleri / Testi Etkileyen Faktörler
Transport süresi ve koşullarına uygun olmayan numuneler, dondurulmuş numuneler, pıhtılı numuneler
Test Bilgisi
Semptomatik bireylerde dilate kardiyomiyopatinin (DCM) ve hipertrofik kardiyomiyopati (HCM) etiyolojisini belirlemek için kullanılır. Ailesinde DCM, HCM veya ani kardiyak ölüm öyküsü olan kişilerde presemptomatik testler için kullanışlıdır. Panel kapsamında çalışılan genler; ABCC9, ACADVL, ACTC1, ACTN2, AGL, ALMS1, ALPK3, BAG3, BRAF, CACNA1C, CACNA1D, CALM1, CALM2, CALM3, CASQ2, CBL, CDH2, CPT2, CRYAB, CSRP3, DES, DMD, DNAJC19, DOLK, DSC2, DSG2, DSP, ELAC2, EMD, EYA4, FHL1, FKRP, FKTN, FLNC, GAA, GATA4, GATA5, GJA5, GLA, HCN4, HRAS, JUP, KCNE1, KCNH2, KCNJ2, KCNQ1, KRAS, LAMP2, LMNA, LZTR1, MAP2K1, MAP2K2, MRAS, MTO1, MYBPC3, MYH7, MYL2, MYL3, MYL4, MYLK3, NF1, NKX2-5, NRAS, PCCA, PCCB, PKP2, PLN, PPA2, PPCS, PPP1CB, PRKAG2, PTPN11, RAF1, RASA1, RBM20, RIT1, RYR2, SCN5A, SDHA, SGCD, SHOC2, SLC22A5, SOS1, SOS2, SPRED1, TAZ, TBX20, TCAP, TMEM43, TMEM70, TNNC1, TNNI3, TNNI3K, TNNT2, TPM1, TRDN, TRPM4, TTN, TTR, VCL, A2ML1, AKAP9, ANK2, ANKRD1, CACNA2D1, CACNB2, CALR3, CAV3, CHRM2, CTF1, CTNNA3, DTNA, FHL2, GATA6, GATAD1, GPD1L, HAND1, ILK, JPH2, KCNA5, KCND3, KCNE2, KCNE3, KCNE5, KCNJ5, KCNJ8, KCNK3, KIF20A, KLF10, LAMA4, LDB3, LRRC10, MAP3K8, MED12, MYH6, MYLK2, MYOM1, MYOZ2, MYPN, NEBL, NEXN, NPPA, PDLIM3, PLEKHM2, PRDM16, RANGRF, RASA2, RRAS, SCN10A, SCN1B, SCN2B, SCN3B, SCN4B, SLMAP, SNTA1, TMPO, TXNRD2, GLRA1, PHOX2B, TSPYL1, ASCL1, BDNF, EDN3, GDNF, KCND2, MAOA, PPP1R13L, RET, SLC6A4, CLCA2, TBX5, KCNK17, TBX3, DPP6, ADAMTS10, AGK, AGPS, ALDH18A1, B3GLCT, BCOR, BFSP1, BFSP2, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CYP27A1, CYP51A1, DHCR7, DNMBP, EED, EIF2B2, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, FAM126A, FOXE3, FTL, FYCO1, GALK1, GALT, GCNT2, GEMIN4, GJA3, GJA8, GNPAT, GTF2H5, HMX1, HSF4, HTRA2, INPP5K, JAM3, LCAT, LIM2, LONP1, LSS, MAF, MAN2B1, MIP, MIR184, MSMO1, MYH9, NDP, NF2, NHS, OCRL, OPA3, P3H2, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PITX3, PXDN, RAB18, RAB3GAP1, RAB3GAP2, SC5D, SIL1, SLC2A1, SLC33A1, SRD5A3, TDRD7, TFAP2A, VIM, VSX2, WFS1, WRN, XYLT2, ABHD12, ANAPC1, ATAD3A, COG4, COPB1, CTDP1, DYRK1A, FAR1, GALM, GFER, GLS, INTS1, MED27, NACC1, NUP188, PANK4, PGRMC1, PIK3C2A, PLOD3, POLG, PSMC3, RIC1, SIPA1L3, SLC16A12, SMG8, SREBF1, TKFC, VPS4A, ZNF526, ADAMTSL4, AKR1E2, AP4B1, B3GALNT2, B4GAT1, BEST1, BUB1B, CAPN15, CBS, CDKN2A, COL6A3, CRYGA, CRYGB, CRYGFP, DAG1, ESCO2, EYA1, FBN1, FLNB, FOXC1, FOXD3, FZD4, GJA1, GJC3, GJE1, GMPPB, HCCS, ISPD, KIAA1109, LARGE1, LCT, LMX1B, LRP5, LTBP2, LTBP3, MAFIP, MAN2A1, MFSD6L, MIPEP, MMP1, NECTIN3, NSUN2, OTX2, PEX5L, PISD, PITX2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRX, PTCH1, RECQL4, RNLS, RNPC3, SEC23A, SIX3, SIX5, SIX6, SOX2, SREBF2, TAF1A, TAPT1, TCF4, TMEM114, TMEM5, UBE2U, GNB5, TANGO2, SLC4A3, TECRL, ALG10, ALG10B, DLG1, NOS1AP, CAVIN4, TGFB3