AGDx NGS – Muscle Disorders panel v2

Test code: V00293
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Genes

ACADVL, ACTA1, ACVR1, AGL, AGRN, 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, ISCU, ISPD, ITGA7, KBTBD13, KCNJ2, KLHL40, KLHL41, KLHL9, LAMA2, LAMP2, LARGE, LDB3, LDHA, LMNA, LMOD3, LPIN1, MEGF10, MICU1, MSTN, MTM1, MUSK, MYF6, MYH2, MYH3, MYH7, MYOT, NEB, ORAI1, PABPN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PIP5K1C, PLEC, PNPLA2, POMGNT1, POMGNT2, POMK, POMT1, POMT2, PREPL, PRPS1, PTRF, PYGM, RAPSN, RBCK1, RYR1, SCN4A, SEPN1, SGCA, SGCB, SGCD, SGCG, SLC18A2, SLC52A2, SLC52A3, SMCHD1, SPEG, STIM1, TCAP, TMEM5, TNNI2, TNNT1, TNPO3, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTC19, TTN, UBA1, VCP, VIPAS39, VMA21, VRK1

Lab method

NGS Sequencing

Turnaround time

3 months

Price  1.115,00

Category:

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