AGDx NGS – Muscle Disorders panel v3

Test code: V00293
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Genes

ALG14, CAVIN1, LAMA5, LARGE1, Munc13-1, MYO9A, NAPA, PYROXD1, RXYLT1, selenon, SLC18A3, SLC25A4, TWNK, ACADVL, ACTA1, ACVR1, AGL, AGRN, ALG2, ANO5, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CCDC78, CFL2, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL13A1, COL6A1, COL6A2, COL6A3, COLQ, CPT2, CRYAB, DAG1, DES, DMD, DNAJB6, DNM2, DOK7, DPAGT1, DPM1, DPM2, DPM3, DYNC1H1, DYSF, ECEL1, EMD, ENO3, ERBB3, EXOSC8, FAM111B, FHL1, FKBP14, FKRP, FKTN, FLNC, GAA, GBE1, GFPT1, GMPPB, GNE, GYG1, GYS1, HSPG2, IGHMBP2, INPP5K, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LDB3, LDHA, LMNA, LMOD3, LPIN1, MEGF10, MICU1, MORC2, MSTN, MTM1, MUSK, MYF6, MYH2, MYH3, MYH7, MYOT, NEB, OPA1, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIP5K1C, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRPS1, PYGM, RAPSN, RBCK1, RRM2B, RYR1, SCN4A, SGCA, SGCB, SGCD, SGCG, SLC18A2, SLC25A1, SLC52A2, SLC52A3, SMCHD1, SPEG, STIM1, SYT2, TANGO2, TCAP, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTC19, TTN, UBA1, VAMP1, VCP, VIPAS39, VMA21, VRK1, XK, YARS, ZC4H2

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.115,00

Category:

  • Glycogen storage disease X - Phosphoglycerate mutase deficiency muscle specific (OMIM: 261670)