AGDx NGS – Muscle Disorders panel v3

Test code: V00293
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Genes

ACADVL, ACTA1, ACVR1, AGL, AGRN, ALG14, ALG2, ANO5, ATP2A1, ATP7A, B3GALNT2, B4GAT1, BAG3, BICD2, BIN1, CACNA1S, CAPN3, CASQ1, CAV3, CAVIN1, 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, LAMA5, LAMP2, LARGE1, LDB3, LDHA, LMNA, LMOD3, LPIN1, MEGF10, MICU1, MORC2, MSTN, MTM1, Munc13-1, MUSK, MYF6, MYH2, MYH3, MYH7, MYO9A, MYOT, NAPA, NEB, OPA1, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIP5K1C, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRPS1, PYGM, PYROXD1, RAPSN, RBCK1, RRM2B, RXYLT1, RYR1, SCN4A, selenon, SGCA, SGCB, SGCD, SGCG, SLC18A2, SLC18A3, SLC25A1, SLC25A4, SLC52A2, SLC52A3, SMCHD1, SPEG, STIM1, SYT2, TANGO2, TCAP, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRIP4, TRPV4, TTC19, TTN, TWNK, UBA1, VAMP1, VCP, VIPAS39, VMA21, VRK1, XK, YARS, ZC4H2

Lab method

NGS Sequencing

Turnaround time

3 months

Location

Location VU

Price  1.115,00

Disorder(s)

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