Doenças neuromusculares e musculares: painel de genes por NGS
Especialidade(s) / Outra(s) Especialidade(s)
Neurologia
Metodologia
NGS
Código SNS
34900
OMIM
–
Nº de Genes
247
Lista de Genes / Mutações
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
TAT
4 a 5 meses
Tipo de Amostra
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.