Neurologia

NGS, com CNVs

34900

–

247

ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACTG2, ACVR1, ADAMTS10, ADGRG6, AGL, AGRN, ALDOA, AMPD1, ANO5, ANTXR2, ASXL1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CLCN1, CNBP, CNTN1, CNTNAP1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT1B, CPT2, CRLF1, CRYAB, DAG1, DES, DMD, DNA2, DNAJB6, DNM2, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYSF, ECEL1, EMD, ENO3, EPG5, ERCC6, ERCC8, ETFA, ETFB, ETFDH, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FHL1, FKBP10, FKBP14, FKRP, FKTN, FLNB, FLNC, GAA, GBA, GBE1, GFPT1, GLDN, GLE1, GMPPB, GNE, GOSR2, GYG1, GYS1, HACD1, HADH, HADHA, HADHB, HNRNPA1, HNRNPA2B1, HRAS, HSPB1, HSPB8, HSPG2, INPP5K, IRF6, ISCU, ISPD, ITGA7, KAT6B, KBTBD13, KLHL40, KLHL41, KLHL7, KLHL9, KY, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, LRP4, MAMLD1, MAP3K20, MATR3, MEGF10, MICU1, MSTN, MTM1, MTMR14, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH3, MYH7, MYH8, MYO18B, MYOT, NALCN, NEB, OPA1, OPA3, ORAI1, PABPN1, PDHA1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PLEC, PLOD1, PLOD2, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, POR, PRG4, PRKAG2, PUS1, PYGM, RAPSN, RBCK1, RIPK4, RRM2B, RYR1, SCARF2, SCN4A, SELENON, SGCA, SGCB, SGCD, SGCG, SIL1, SKI, SLC16A1, SLC18A3, SLC22A5, SLC25A20, SLC25A4, SLC5A7, SMAD3, SMAD4, SPEG, SQSTM1, STAC3, STIM1, SUCLA2, SYNE1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TIA1, TK2, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIM32, TRPV4, TSEN54, TSFM, TTN, TWNK, TYMP, UBA1, VCP, VIPAS39, VMA21, VPS33B, YARS2, ZC4H2, ZMPSTE24

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.