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Neurology

NGS, with CNVs analysis

34900

–

433

AAAS, AARS, ABCA2, ABCB7, ABHD12, ACBD6, ACO2, ADCY5, ADGRG1, ADPRHL2, AFG3L2, AGTPBP1, AHI1, ALDH5A1, ALG1, ALG11, ALG12, ALG14, ALG3, ALG6, ALG8, ALG9, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARL3, ARMC9, ARSA, ASL, ATAD3A, ATCAY, ATG7, ATM, ATP1A2, ATP1A3, ATP2B3, ATP6AP1, ATP6V0A1, ATP6V0A2, ATP7B, ATP8A2, AUH, B3GALNT2, B3GALT6, B3GAT3, B3GLCT, B4GALNT1, B4GALT1, B4GALT7, B4GAT1, B9D2, BBS1, BRF1, C2CD3, C5orf42, CA8, CACNA1A, CACNA1G, CACNA2D2, CAD, CAMTA1, CAPN1, CAPRIN1, CASK, CBY1, CC2D2A, CCDC115, CENPF, CEP104, CEP290, CEP41, CHMP1A, CHP1, CHST14, CHST3, CHST6, CHSY1, CLCN2, CLN5, CLN6, CLP1, CLPP, COA7, COASY, COG1, COG3, COG4, COG5, COG6, COG7, COG8, COQ4, COQ8A, COX20, CP, CRB2, CSGALNACT1, CSPP1, CSTB, CTBP1, CWF19L1, CYP27A1, CYP2U1, DAG1, DAGLA, DARS2, DCC, DDHD2, DDOST, DDX59, DHCR7, DHDDS, DHRSX, DKC1, DLG4, DNAJC19, DNAJC3, DNAJC5, DNMT1, DOCK3, DOLK, DPAGT1, DPM1, DPM2, DPM3, DPYSL5, DYNC1H1, EBF3, EDEM3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EN1, EOGT, EPM2A, ERCC4, EVC, EVC2, EXOC3L2, EXOSC3, EXOSC5, EXOSC8, EXOSC9, EXT1, EXT2, FA2H, FAM149B1, FBXL4, FDXR, FEM1C, FGF14, FKRP, FKTN, FLVCR1, FOLR1, FRMD5, FUK, FUT8, FXN, G6PC3, GALC, GALNT2, GALNT3, GBA2, GDAP2, GEMIN5, GFAP, GFPT1, GJC2, GLI3, GLRA1, GLRB, GLS, GMPPA, GMPPB, GNE, GORAB, GOSR2, GPAA1, GRID2, GRM1, GRN, HARS, HEATR5B, HEXA, HEXB, HMBS, HYLS1, ICK, IFT74, INPP5E, INTS11, IRF2BPL, ISPD, ITPR1, KCNA1, KCNA2, KCNC3, KCND3, KCNJ10, KCNN2, KCNQ2, KCNQ3, KIAA0586, KIAA0753, KIF1A, KIF1C, KIF7, LAMA1, LARGE1, LARS2, LETM1, LFNG, LIG3, LNPK, MAG, MAGT1, MAN1B1, MAN2B2, MAPK8IP3, MARS2, MFN2, MGAT2, MINPP1, MKS1, MMACHC, MOGS, MORC2, MPDU1, MPI, MRE11, MSTO1, MT-ATP6, MTCL1, MTFMT, MTPAP, MTTP, MVK, NAA60, NAXE, NFASC, NGLY1, NHLRC1, NKX2-1, NKX6-2, NPC1, NPC2, NPHP1, NPHP3, NPTX1, OFD1, OGDHL, OPA1, OPA3, OPHN1, PACS2, PAX6, PDYN, PEX16, PEX2, PEX6, PGAP2, PGAP3, PGM1, PGM3, PHGDH, PI4KA, PIBF1, PIGA, PIGL, PIGM, PIGN, PIGO, PIGS, PIGT, PIGV, PIGW, PITRM1, PLA2G6, PMM2, PMPCA, PMPCB, PNKD, PNKP, PNPLA6, PNPT1, POC1B, POLG, POLR3A, POLR3B, POLR3K, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POU4F1, PRDM13, PRDX3, PRKCG, PRNP, PRPS1, PRRT2, PTF1A, PTRH2, PUM1, RARS2, RELN, RFT1, RFXANK, RNF170, RNF216, RNF220, ROBO3, RORA, RPGRIP1L, SACS, SAMD9L, SAR1B, SCLT1, SCN1A, SCN2A, SCN8A, SCYL1, SEC23B, SEPSECS, SETX, SIL1, SLC17A5, SLC1A3, SLC25A46, SLC2A1, SLC35A1, SLC35A2, SLC35C1, SLC35D1, SLC37A4, SLC39A8, SLC44A1, SLC52A2, SLC9A1, SLC9A6, SMPD4, SNAP25, SNX14, SPG7, SPR, SPTAN1, SPTBN2, SQSTM1, SRD5A3, SSR3, SSR4, ST3GAL3, ST3GAL5, STT3A, STUB1, SUFU, SVBP, SYNE1, SYNGAP1, TANGO2, TBC1D23, TCTN1, TCTN2, TCTN3, TDP1, TDP2, TECPR2, TERT, TGM6, THG1L, TINF2, TMEM106B, TMEM107, TMEM138, TMEM165, TMEM199, TMEM216, TMEM218, TMEM231, TMEM237, TMEM240, TMEM5, TMEM67, TOE1, TOGARAM1, TPP1, TRAPPC11, TSEN15, TSEN2, TSEN34, TSEN54, TTBK2, TTC19, TTPA, TUBA1A, TUBA4A, TUBA8, TUBB2B, TUBB3, TUBB4A, TUSC3, TWNK, TXNDC15, UBA5, UBTF, UCHL1, VAMP1, VLDLR, VPS13B, VPS13D, VPS41, VPS53, VRK1, WDR73, WDR81, WFS1, WWOX, XRCC1, XYLT1, XYLT2, ZFHX3, ZFYVE26, ZNF423, ZSWIM6

2 to 3 months

Peripheral blood in EDTA tube (3 to 6mL); stable for 48h at room temperature (RT) or 72h refrigerated
or
DNA (>5μg with concentration >20ng/μL); stable for 48h at room temperature (RT) or >48h refrigerated
–
For other samples types, please contact the laboratory.