Miopatías, distrofias musculares y miotonías
Catálogo: Catálogo genética médica con informe
Referencia: LV5001
Especialidad: Neurología
Secuenciación masiva y cribado bioinformático de CNVs, panel de 300 genes: ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACBD5, ACTA1, ACTG2, ACTN2, ACVR2B, ADAMTS15, ADCY6, ADGRG6, ADSS1, AGK, AGL, ALDOA, AMPD1, ANO5, ASCC1, ATP2A1, B3GALNT2, B4GAT1, BAG3, BCS1L, BIN1, BVES, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, CCDC78, CFL2, CHCHD10, CHKB, CIAO1, CLCN1, CNTN1, CNTNAP1, COA5, COA8, COL12A1, COL6A1, COL6A2, COL6A3, COL9A3, COQ2, COQ4, COQ7, COQ9, COX10, COX14, COX15, COX20, COX6A2, COX6B1, COX8A, CPT1B, CPT2, CRPPA, CRYAB, DAG1, DES, DGUOK, DHX16, DLAT, DMD, DNA2, DNAJB4, DNAJB6, DNAJC19, DNM1L, DNM2, DOK7, DOLK, DPM1, DPM2, DPM3, DYSF, EARS2, ECEL1, ECHS1, ELAC2, EMD, ENO3, EPG5, ERBB3, ETFA, ETFB, ETFDH, EXOSC3, EXOSC8, FAM111B, FARS2, FASTKD2, FBN2, FBXL4, FDX2, FHL1, FKBP14, FKRP, FKTN, FLAD1, FLNC, FOXRED1, FXR1, GAA, GBE1, GFER, GFM1, GLDN, GLE1, GMPPB, GNE, GYG1, GYS1, HACD1, HADHA, HADHB, HIBCH, HINT1, HNRNPA1, HNRNPA2B1, HNRNPDL, HRAS, HSPG2, HTRA2, INPP5K, ISCU, ITGA7, ITGA9, JPH1, KBTBD13, KLHL40, KLHL41, KY, LAMA2, LAMP2, LARGE1, LDB3, LDHA, LETM1, LIMS2, LIPE, LMNA, LMOD3, LPIN1, LYRM7, MAP3K20, MATR3, MB, MEGF10, MET, MGME1, MICU1, MLIP, MPV17, MTAP, MTM1, MTMR14, MYBPC1, MYH14, MYH2, MYH3, MYH7, MYH8, MYL1, MYL11, MYL2, MYMK, MYOD1, MYOT, MYPN, NALCN, NARS2, NDUFA11, NDUFA12, NDUFA9, NDUFAF1, NDUFAF4, NDUFAF6, NDUFB3, NDUFS4, NDUFV2, NEB, NEK9, NFU1, NUBPL, OPA1, ORAI1, PABPN1, PAX7, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PIEZO2, PIP5K1C, PLEC, PMM2, PNPLA2, PNPLA8, POGLUT1, POLG, POLG2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PRKAG2, PSMB8, PUS1, PYGM, PYROXD1, RBCK1, RNASEH1, RRM2B, RXYLT1, RYR1, RYR3, SARS2, SCN4A, SCO1, SCO2, SDHA, SDHAF1, SDHD, SELENON, SERAC1, SGCA, SGCB, SGCD, SGCG, SLC22A5, SLC25A20, SLC25A26, SLC25A32, SLC25A4, SLC25A42, SLC35A2, SLC52A2, SLC52A3, SMCHD1, SMPX, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, SUCLA2, SUCLG1, SVIL, SYNE1, SYNE2, TACO1, TAFAZZIN, TANGO2, TBCD, TBCE, TCAP, TIA1, TK2, TMEM126B, TMEM43, TNNC2, TNNI2, TNNT1, TNNT3, TNPO3, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRMT10C, TRMT5, TSFM, TTC19, TTN, TTR, TWNK, TYMP, UNC45B, VARS2, VCP, VMA21, VWA1, WARS2, XK, YARS2, ZBTB42, ZC4H2 y análisis del genoma mitocondrial
