Buscador de Patologías y Genes

Panel NGS

P00183

Patología

DISTROFIAS MUSCULARES/ MIOPATÍAS

201

Genes

AARS, ABHD5, ACAD9, ACADL, ACADM, ACADS, ACADVL, ACTA1, ACVR1, AGK, AGL, AGRN, AIFM1, ALG14, ALG2, AMACR, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BIN1, CACNA1S, CAPN3, CAV3, CAVIN1, CCDC78, CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CLN3, CNTN1, COL4A1, COL4A2, COL6A1, COL6A2, COL6A3, COL9A3, COLQ, COX15, CPT1A, CPT2, CRYAB, DAG1, DES, DGUOK, DMD, DNAJB6, DNM2, DNMT3B, DOK7, DOLK, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYNC2H1, DYSF, EGR2, EMD, ETFA, ETFB, ETFDH, EXOSC3, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GARS, GBE1, GCDH, GDAP1, GFM1, GFPT1, GLRA1, GLRB, GNE, GNPTAB, GOSR2, GYG1, HADH, HADHA, HADHB, HINT1, HNRNPU, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, ITGA9, KBTBD13, KIF21A, LAMA2, LAMB2, LAMP2, LARGE1, LAS1L, LDB3, LMNA, LPIN1, LRP4, MAMLD1, MATR3, MEGF10, MFN2, MME, MMEL1, MPZ, MTM1, MTMR14, MTO1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH7, MYL2, MYOT, MYPN, NEB, NEFL, OPA1, ORAI1, PFKM, PGK1, PGM1, PHOX2B, PLEC, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PUS1, PYGM, RAPSN, RRM2B, RXYLT1, RYR1, SCN4A, SCO2, SELENON, SGCA, SGCB, SGCD, SGCE, SGCG, SIL1, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC52A3, SLC5A7, SLC6A5, SMCHD1, SNAP25, SPG7, SQSTM1, STIM1, SYNE1, SYNE2, SYT2, TAZ, TCAP, TK2, TMEM43, TMEM70, TNNT1, TNNT3, TNXB, TPM2, TPM3, TRIM32, TRPV4, TTN, TTR, TUBB2B, TUBB3, TYMP, UBA1, VCP, VMA21, VPS13A, VRK1

Solicitud de turno

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