Muscle Diseases > Muscle Weakness (Myopathy, Muscular Dystrophy) (179 genes)

بخش تست مربوطه

• Molecular Genetic
• Neuromuscular Diseases

اساس روش آزمایش؛متد انجام تست

NGS

قابلیت اورژانس

Applicable

تست خاص بخش

Yes

وضعیت تست

Active

نوع نمونه تست

Fresh Whole Blood in EDTA Lavender Cap

حجم نمونه تست

5 mL

شرایط قبل از انجام تست

شرایط دمایی نگهداری نمونه

Refrigerated

شرایط حمل نمونه

at 4-8 °c

موارد رد نمونه

"Less than 5 mL whole blood Frozen specimen"

روز انجام تست

Daily

مدت زمان انجام تست

in 8-10 working weeks

AARS, ABHD5, ACAD9, ACADM, ACADS, ACADVL, ACTA1, AGK, AGL, AGRN, ALG14, ALG2, AMACR, AMPD1, ANO5, B3GALNT2, B3GNT1, BAG3, BICD2, BIN1, C10orf2, CACNA1S, CAPN3, CAV3, CCDC78,CFL2, CHAT, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CLCN1, CNTN1, COL12A1, COL6A1,COL6A2, COL6A3, COLQ, COX15, CPT1A, CPT2, CRYAB, CUL4B, DES, DMD, DNAJB6, DNM2, DOK7,DPAGT1, DPM2, DYNC1H1, DYSF, EGR2, EMD, ETFA, ETFB, ETFDH, FDX1L, FHL1, FKBP14, FKRP, FKTN,FLNC, GAA, GARS, GBE1, GDAP1, GFM1, GFPT1, GLRA1, GLRB, GMPPB, GNE, GOSR2, HADH, HADHA,HADHB, HINT1, HNRNPU, HSPG2, IGHMBP2, ISCU, ISPD, ITGA7, KBTBD13, KIF21A, KLHL40, LAMA2,LAMP2, LARGE, LAS1L, LDB3, LIMS2, LMNA, LPIN1, LRP4, MATR3, MEGF10, MFN2, MICU1, MPZ, MTM1MTMR14, MTO1, MUSK, MYBPC1, MYF6, MYH14, MYH2, MYH7, MYOT, NEB, NEFL, ORAI1, PFKM,PGK1, PGM1, PHOX2B, PIEZO2, PLEC, PNPLA2, POLG, POLG2, POMGNT1, POMGNT2, POMK,POMT1, POMT2, PREPL, PTRF, PUS1, PYGM, RAPSN, RRM2B, RYR1, SCN4A, SCO2, SDHA, SEPN1, SEPT9,SGCA, SGCB, SGCD, SGCG, SIL1, SLC22A5, SLC25A20, SLC25A3, SLC25A4, SLC52A3, SLC6A5,SMCHD1, SNAP25, STAC3, STIM1, SYNE1, SYNE2, TAZ, TCAP, TIA1, TK2, TMEM43, TMEM5, TMEM70,TNNT1, TNPO3, TNXB, TOR1AIP1, TPM2, TPM3, TRAPPC11, TRIM32, TRPV4, TTN, TTR, TUBB3, UBA1,VCP