Neurologia

NGS, com CNVs

34900

–

27

APOE (alelo e4), APP, CHCHD10, CHMP2B, COL4A1, COL4A2, CSF1R, CST3, CTC1, DCTN1, ITM2B, GLA, GRN, GSN, HTR1A, MAPT, NOTCH3, PRNP, PSEN1, PSEN2, SNCA, SNCB, SQSTM1, TARDBP, TBK1, TREX1, TTR

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

17

AFG3L2, ANO10, ATM, COQ8A, MRE11, MTPAP, MTTP, PIK3R5, POLG, SACS, SETX, SIL1, SPTBN2, SYNE1, SYT14, TDP1, ZNF592

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

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 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

31

AR, ASAH1, ASCC1, ATP7A, BICD2, BSCL2, CHCHD10, DCTN1, DNAJB2, DYNC1H1, EXOSC8, FBXO38, GARS, HSPB1, HSPB8, HSPB3, IGHMBP2, PLEKHG5, RAX2, REEP1, SETX, SIGMAR1, SLC5A7, SMN1, TBCE, TRIP4, TRPV4, UBA1, VAPB, VRK1, WARS

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

110

ACVR1, ADAR, AP1S2, ATP13A2, ATP7B, BCS1L, C19orf12, CA2, CASR, COASY, COX10, COX15, CP, CYP2U1, DENND5A, DLAT, DNM1L, ERCC3, ERCC4, ERCC6, ERCC8, ESAM, ETHE1, EXOSC2, FA2H, FAM111A, FOXP2, FTL, GATA3, GCDH, GFAP, GJA1, GNA11, GNAS, HIBCH, IFIH1, ISG15, IVD, JAM2, KIAA1161, KMT2B, LSM11, MECR, MT-ATP6, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TF, MT-TH, MT-TL1, MT-TQ, MT-TS1, MT-TS2, MT-TW, MUT, MYORG, NDUFA1, NDUFA10, NDUFAF2, NDUFAF6, NDUFS4, NDUFS7, NDUFS8, NDUFV1, OCLN, OPA1, PANK2, PCCA, PCCB, PDE10A, PDGFB, PDGFRB, PDHA1, PDP1, PLA2G6, PRNP, PSMB8, PSMG2, RAB39B, RBBP8, RNASEH2B, RNU7-1, SAMHD1, SDHA, SERAC1, SLC19A3, SLC20A2, SLC25A19, SLC25A46, SLC30A10, SLC39A14, SLC46A1, SNORD118, SUCLA2, SUCLG1, SURF1, TOR1A, TREM2, TREX1, TUBA1A, TUBB4A, TYROBP, VAC14, VPS13A, WDR45, XPR1

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

3

CCM2, KRIT1, PDCD10

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

257

AAAS, AASS, ABAT, ABCB7, ACBD6, ACER3, ACOX1, ACSF3, ACTB, ADAR, ADCY5, AFG3L2, ALDH18A1, ANO10, ANO3, AP1S2, APTX, ARFGEF3, ARSA, ARX, ASL, ATCAY, ATM, ATP13A2, ATP1A2, ATP1A3, ATP5G3, ATP7B, AUH, BCAP31, BCS1L, C19orf12, CA8, CACNA1A, CACNA1G, CACNB4, CAMK4, CHCHD2, CHMP2B, CIZ1, CLN3, CLN5, CLN8, CLPB, COASY, COL6A3, COX10, COX15, COX20, CP, CSF1R, CSTB, CTSD, CWF19L1, CYP27A1, DCAF17, DCC, DCTN1, DDC, DHDDS, DLAT, DLD, DNAJC12, DNAJC5, DNAJC6, ECHS1, EIF2AK2, EIF4G1, ELOVL4, FA2H, FBXO7, FGF14, FITM2, FOLR1, FOXG1, FOXRED1, FTL, FUCA1, FXN, GBA, GCDH, GCH1, GFAP, GJC2, GLB1, GLRA1, GLRB, GM2A, GNAL, GNAO1, GNB1, GRID2, GRIN1, GRM1, GRN, GTPBP2, HCFC1, HECW2, HEXA, HIBCH, HNRNPH1, HPCA, HPRT1, HSD17B10, HSPD1, HTRA2, HTT, IFIH1, IMPDH2, IRF2BPL, ITPR1, KCNA1, KCNC3, KCND3, KCNMA1, KCNQ2, KCTD17, KIAA1161, KIF1A, KIF1C, KMT2B, L2HGDH, LRPPRC, LRRK2, LYST, MAL, MAPT, MARS2, MECR, MED27, MRE11, MTFMT, NDUFA1, NDUFA10, NDUFA12, NDUFA2, NDUFAF5, NDUFAF6, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NGLY1, NKX2-1, NKX6-2, NPC1, NPC2, NUP54, OPA3, PANK2, PARK7, PCCA, PCCB, PCDH12, PDE10A, PDE2A, PDGFB, PDGFRB, PDHA1, PDHX, PDYN, PET100, PINK1, PLA2G6, PLP1, PNKD, PNKP, PNPT1, POLR3A, PPP2R5D, PRKCG, PRKN, PRKRA, PRNP, PRRT2, PTS, QDPR, RAB39B, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, RNU7-1, SACS, SAMHD1, SCN1A, SCN8A, SERAC1, SETX, SGCE, SHQ1, SIL1, SLC16A2, SLC18A2, SLC19A3, SLC1A3, SLC20A2, SLC2A1, SLC30A10, SLC30A9, SLC39A14, SLC6A3, SLC6A5, SLC6A8, SNCA, SNORD118, SNX14, SPATA5L1, SPG11, SPG7, SPR, SQSTM1, STUB1, SUCLA2, SUOX, SURF1, SYNJ1, SYT1, TAF1, TARS2, TBC1D24, TBK1, TGM6, TH, THAP1, TIMM8A, TMEM151A, TMEM240, TOR1A, TPK1, TPP1, TREX1, TSPOAP1, TTBK2, TUBB4A, UBTF, UCHL1, VAC14, VAMP1, VAMP2, VPS11, VPS13A, VPS13D, VPS16, VPS35, VPS41, VPS4A, WDR45, WDR73, WFS1, WWOX, XPR1, YIF1B, YY1, ZSWIM6

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

28

ANO5, BVES, CAPN3, CAV3, DES, DNAJB6, DYSF, FKRP, FKTN, GMPPB, ISPD, HNRNPDL, LIMS2, LMNA, MYOT, PLEC, POMGNT1, POMT1, POMT2, SGCA, SGCB, SGCD, SGCG, TCAP, TNPO3, TRAPPC11, TRIM32, TTN

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

16

APOE, APP, CHMP2B, FUS, GRN, MAPT, PRNP, PSEN1, PSEN2, SNCA, SNCB, SORL1, TARDBP, TBK1, TREM2, VCP

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.

Neurologia

NGS, com CNVs

34900

–

63

AARS, AIFM1, ATL1, ATP7A, BSCL2, C12orf65, COX6A1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, ELP1, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HINT1, HK1, HOXD10, HSPB1, HSPB8, IGHMBP2, INF2 (excepto aminoácidos 420-500, exão 8, NM_022489.3), KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, NDRG1, NEFL, NGF, NTRK1, PDK3, PLEKHG5, PMP22, PRPS1, PRX, RAB7A, REEP1, RETREG1, SBF1, SBF2, SH3TC2, SLC12A6, SPTLC1, SPTLC2, TRIM2, TRPV4, TTR, WNK1, YARS

2 a 3 meses

Sangue periférico em EDTA (3 a 6mL); estável 48h à temperatura ambiente (TA) ou 72h refrigerado
ou
ADN (>5μg com concentração >20ng/μL); estável 48h à TA ou >48h refrigerado
–
Para outros tipos de amostra, por favor contacte o laboratório.