Metabolic Diseases

Neurology

NGS, with CNVs analysis

34900

–

93

AARS, AARS2, ABCD1, ALDH3A2, APP, ARSA, AUH, CLCN2, COL4A1, COL4A2, CSF1R, CST3, CTC1, CTSA, CYP27A1, DARS, DARS2, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EPRS, GALC, GBE1, GCDH, GFAP, GJA1, GJB1, GJC2, GLA, GLB1, GSN, HEPACAM, HEXA, HMGCL, HTRA1, ITM2B, KIF5A, L2HGDH, LAMB1, LARS2, LIG3, LMNB1, MAL, MARS, MCOLN1, MTHFR, NOTCH3, NPC1, OCRL, PAH, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PLP1, POLR1C, POLR3A, POLR3B, PRNP, PSAP, PSEN1, PSEN2, PTEN, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF216, SAMHD1, SNORD118, SPG11, SPG21, TPP2, TREM2, TREX1, TTR, TUBB4A, TYMP, TYROBP, ZFYVE26

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.

Neurology

NGS, with CNVs analysis

34900

–

16

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

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.

Neurology

NGS, with CNVs analysis

34900

–

3

ALS2, ERLIN2, SETX

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.

Neurology

NGS, with CNVs analysis

34900

PS105400

23

ALS2, ANG, DCTN1, FIG4, FUS, HNRNPA1, KIF5A, NEFH, NEK1, OPTN, PFN1, SETX, SIGMAR1, SLC52A2, SLC52A3, SOD1, SPAST, TARDBP, TBK1, TUBA4A, UBQLN2, VAPB, VCP

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.

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.

Neurology

NGS, with CNVs analysis

34900

–

3

CCM2, KRIT1, PDCD10

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.

Neurology

NGS, with CNVs analysis

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 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.

Neurology

NGS, with CNVs analysis

34900

–

52

ABL1, ACTA2, ADAMTS2, ADAMTSL4, ARHGAP36, ATP7A, B3GALT6, B4GALT7, CBS, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, COL6A3, DSE, EFEMP2, ELN, EMILIN1, FBN1, FBN2, FKBP14, FLCN, FLNA, GAA, HRAS, KCNJ8, KIF22, MED12, MYH11, MYLK, NOTCH1, PLOD1, PLOD3, PRKG1, PTPN11, SKI, SLC2A10, SLC39A13, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2, THBS2, TNXB, ZNF469

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.

Neurology

NGS, with CNVs analysis

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 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.

Neurology

NGS, with CNVs analysis

34900

–

49

ACY1, ADSL, ALDH7A1, AMT, ARHGEF9, ARX, CDKL5, CNTNAP2, CPT2, FOLR1, FOXG1, GABRG2, GAMT, GCSH, GLDC, GRIN2A, GRIN2B, KCNA2, KCNJ10, KCNQ2, MAPK10, MECP2, MTHFR, NRXN1, PCDH19, PLCB1, PNKP, PNPO, PRRT2, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, SLC19A3, SLC25A22, SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2

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.