Broj gena
380
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
Genome panel za neurostrukturne poremećaje uključuje gene povezane sa abnormalnostima u razvoju cerebralne arhitekture, atrofijom mozga, cerebralnim angiopatijama, cerebralnim malformacijama, intrakerebralnom kalcifikacijom i abnormalnostima bijele tvari. Panel uključuje skrining ekspanzije ponavljanja za gene: ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, C9orf72, CACNA1A, CSTB, FMR1, FXN, HTT, NOP56, PPP2R2B, PRNP, TBP.
Geni
AAAS, AARS1, ABCB7, ABCC6, ABCD1, ABHD12, ACE, ACOX1, ACP5, ACTA2, ACVRL1, ADA2, ADAR, ADGRG1, AFG3L2, AIMP1, ALAS2, ALX1, ALX3, ALX4, AMPD2, ANKLE2, ANO10, ANTXR1, AP1S2, APOE, APP, APTX, ARFGEF2, ARSA, ARX, ASPA, ASPM, ATAD3A, ATCAY, ATM, ATN1, ATP1A3, ATP2B3, ATP7A, ATP8A2, ATR, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, B3GALNT2, B4GAT1, BEAN1, BIN1, BRF1, C9orf72, CA2, CA8, CACNA1A, CACNA1G, CACNA2D2, CAMTA1, CASK, CBL, CCDC88C, CCM2, CDH2, CDK5, CDON, CEP152, CEP63, CHCHD10, CHD4, CHMP1A, CHMP2B, CLCN2, CLN6, CLP1, CNOT3, COASY, COG5, COL18A1, COL3A1, COL4A1, COL4A2, COL5A1, COQ8A, COX20, CP, CPAP, CRB1, CRPPA, CSF1R, CST3, CSTB, CTC1, CTSA, CTSF, CUL4B, CWF19L1, CYLD, CYP27A1, CYP2U1, DAG1, DAGLA, DARS2, DCC, DCX, DDHD2, DDX3X, DKC1, DMXL2, DNA2, DNAJC19, DNAJC5, DNMT1, DYNC1H1, EARS2, EEF2, EFEMP1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELN, ELOVL4, ELOVL5, EMX2, ENG, EPHB4, EPM2A, ERCC2, ERCC6, EXOSC3, EXOSC8, FARSA, FARSB, FBN1, FGF14, FGFR1, FKRP, FKTN, FLNA, FLT4, FLVCR1, FLVCR2, FMR1, FOLR1, FOXC1, FOXF1, FOXG1, FRMD4A, FUS, FXN, GALC, GBA2, GDF2, GFAP, GJC2, GLA, GLMN, GMPPB, GNAQ, GOSR2, GPAA1, GRID2, GRM1, GRN, GUCY1A1, HAAO, HBB, HEXA, HEXB, HMGA2, HTRA1, HTT, IFIH1, IL6, ITM2B, ITPR1, JAG1, JAM3, KANSL1, KCNA1, KCNC3, KCND3, KCNJ10, KDR, KIF1C, KIF26A, KIFBP, KRIT1, L1CAM, LAMB1, LAMC3, LARGE1, MACF1, MAN2C1, MAPT, MARS2, MAT1A, MEF2C, MMACHC, MRE11, MSX2, MT-ATP6, MTPAP, MTTP, MVK, MYH11, MYORG, NAGLU, NDE1, NF1, NFASC, NHLRC1, NKX6-2, NOP56, NOTCH3, NPC1, NPC2, NRROS, NUS1, OCLN, OFD1, OPA3, OPHN1, OPTN, OTX2, PAFAH1B1, PANX1, PAX2, PAX6, PCDH12, PCLO, PCNT, PDCD10, PDGFB, PDGFRB, PDYN, PEX16, PHGDH, PI4KA, PIK3CA, PIK3R2, PITX2, PKD1, PKD2, PLA2G6, PLCG2, PLP1, PMPCA, PNKP, PNPLA6, POLG, POLR3A, POLR3B, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PPP2R2B, PRDM13, PRICKLE1, PRKCG, PRNP, PRRT2, PSEN1, PSEN2, PTEN, PTF1A, QRICH1, RAB3GAP1, RARS2, RASA1, RBBP8, RELN, RIN2, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF170, RNF213, RNF216, ROBO1, ROBO3, RTTN, RXYLT1, SACS, SAMHD1, SAR1B, SATB2, SCN2A, SCN8A, SCP2, SEMA3A, SEPSECS, SETD5, SETX, SIL1, SLC1A3, SLC20A2, SLC2A1, SLC2A10, SLC9A6, SMAD3, SMAD4, SMAD9, SMARCAL1, SMPD4, SNORD118, SNX14, SORL1, SOX10, SPG7, SPTBN2, SQSTM1, SRD5A3, STAMBP, STUB1, SUMF1, SURF1, SYNE1, TARDBP, TBK1, TBP, TDP1, TEK, TERT, TGFB2, TGFBR1, TGFBR2, TGM6, THSD1, TINF2, TMEM106B, TMEM240, TOE1, TPP1, TRAIP, TREM2, TREX1, TSC1, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TTR, TUBA1A, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TWNK, UBQLN2, UCHL1, USP18, VAMP1, VCAN, VCP, VLDLR, VPS13D, VPS35L, VPS53, VRK1, WBP2, WDR73, WDR81, WFS1, WNT7A, WWOX, XPR1, YY1AP1, ZFYVE26