Broj gena
379
TAT (radni dani)
25
Metoda
NGS uključujući analizu CNV-a
Uzorak
Puna krv
Opis
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. Varijante u genima ATN1, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, ATXN8OS, C9orf72, CACNA1A, CSTB, FMR1, FXN, HTT, NOP56, PPP2R2B, PRNP i TBP ispitane su samo kao sekvencijske varijante. Ako postoji klinička sumnja na poremećaj uzrokovan ekspanzijom ponavljanja u jednom ili više navedenih gena, preporučuje se Genome verzija ovog panela.
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, 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