Neuromuscular Diseases Panel (269 Genes)
| TEST CODE | MGP1190 |
| TEST NAME | Neuromuscular Diseases Panel (269 Genes) |
| RELATED GENE | AARS,ABCB7,ABCD1,ABHD12,ACADL,ACADM,ACO2,ACTA1,ADCK3,ALDH3A2,AMPD1,ANO10,ANO5,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APTX,ARSA,ATCAY,ATM,ATP2A1,ATP7A,ATP7B,ATP8A2,BAG3,BEAN1,BIN1,CACNA1S,CACNB4,CAPN3,CASK,CAV3,CCDC78,CCDC88C,CFL2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CLCN1,CLCN2,CLN5,CNTN1,COL6A1,COL6A2,COL6A3,COLQ,CPT2,CRYAB,CTDP1,CYP27A1,DDHD2,DES,DMD,DNAJB2,DNAJB6,DNM2,DNMT1,DOK7,DYNC1H1,DYSF,EGR2,ELOVL4,EMD,ERLIN2,ETFA,FAM134B,FGD4,FGF14,FHL1,FIG4,FKRP,FKTN,FLNC,FLVCR1,FRMD7,FUS,FXN,GAA,GAD1,GALC,GAN,GARS,GDAP1,GJB1,GJC2,GLA,GLE1,GNE,GOSR2,GPR143,GRID2,HINT1,HOXD10,HSPB8,HSPD1,HSPG2,IGHMBP2,IKBKAP,ISPD,ITGA7,ITPR1,JPH3,KBTBD13,KCNA1,KCNC3,KCND3,KCNE3,KCNJ10,KCNJ18,KIAA0196,KIF1A,KIF1B,KIF5A,L1CAM,LAMA1,LAMA2,LARGE,LDB3,LITAF,LMNA,LPIN1,LRSAM1,MARS2,MATR3,MED25,MFN2,MPZ,MRE11A,MTM1,MTMR14,MTMR2,MTPAP,MTTP,MUSK,MYF6,MYH2,MYH7,MYOT,NDRG1,NEB,NEFL,NGF,NIPA1,NOP56,NTRK1,OPA1,OPA3,OPHN1,PABPN1,PANK2,PDYN,PEX7,PFKM,PGAM2,PHKA1,PHYH,PLEC,PLEKHG5,PLP1,PMM2,PMP22,PNKP,PNPLA6,POLG,POLG2,POMGNT1,POMT1,POMT2,PRKCG,PRPS1,PRX,RYR1,RYR2,SACS,SBF2,SCN4A,SCN9A,SEPN1,SETX,SGCA,SGCB,SGCD,SGCE,SGCG,SH3TC2,SIL1,SLC12A6,SLC16A2,SLC1A3,SLC33A1,SLC39A4,SLC52A2,SLC9A6,SMN1,SOD1,SPAST,SPG11,SPG20,SPG21,SPG7,SPTBN2,SPTLC1,SPTLC2,SUCLA2,SYNE1,TECPR2,TGM6,TK2,TNNI2,TNNT1,TPM2,TPM3,TPP1,TRIM32,TRPV4,TTBK2,TTN,TTPA,TTR,TUBB4A,TYMP,VCP,VLDLR,VPS13A,VPS37A,WNK1,WWOX,XK,ZFYVE27,ZNF592,ACAD9,AFG3L2,AGL,AIFM1,BSCL2,CACNA1A,CYP2U1,CYP7B1,DAG1,DCTN1,DDHD1,ETFB,FA2H,GRM1,GYS1,HADHA,HADHB,PTF1A,PTRF,PYGM,RAB7A,RAPSN,REEP1,RRM2B,RTN2,SYNE2,SYT14,TBP,TCAP,TDP1,VRK1,WFS1,YARS,ZFYVE26 |
| SYNONYMOUS | AARS,ABCB7,ABCD1,ABHD12,ACADL,ACADM,ACO2,ACTA1,ADCK3,ALDH3A2,AMPD1,ANO10,ANO5,AP4B1,AP4E1,AP4M1,AP4S1,AP5Z1,APTX,ARSA,ATCAY,ATM,ATP2A1,ATP7A,ATP7B,ATP8A2,BAG3,BEAN1,BIN1,CACNA1S,CACNB4,CAPN3,CASK,CAV3,CCDC78,CCDC88C,CFL2,CHAT,CHRNA1,CHRNB1,CHRND,CHRNE,CHRNG,CLCN1,CLCN2,CLN5,CNTN1,COL6A1,COL6A2,COL6A3,COLQ,CPT2,CRYAB,CTDP1,CYP27A1,DDHD2,DES,DMD,DNAJB2,DNAJB6,DNM2,DNMT1,DOK7,DYNC1H1,DYSF,EGR2,ELOVL4,EMD,ERLIN2,ETFA,FAM134B,FGD4,FGF14,FHL1,FIG4,FKRP,FKTN,FLNC,FLVCR1,FRMD7,FUS,FXN,GAA,GAD1,GALC,GAN,GARS,GDAP1,GJB1,GJC2,GLA,GLE1,GNE,GOSR2,GPR143,GRID2,HINT1,HOXD10,HSPB8,HSPD1,HSPG2,IGHMBP2,IKBKAP,ISPD,ITGA7,ITPR1,JPH3,KBTBD13,KCNA1,KCNC3,KCND3,KCNE3,KCNJ10,KCNJ18,KIAA0196,KIF1A,KIF1B,KIF5A,L1CAM,LAMA1,LAMA2,LARGE,LDB3,LITAF,LMNA,LPIN1,LRSAM1,MARS2,MATR3,MED25,MFN2,MPZ,MRE11A,MTM1,MTMR14,MTMR2,MTPAP,MTTP,MUSK,MYF6,MYH2,MYH7,MYOT,NDRG1,NEB,NEFL,NGF,NIPA1,NOP56,NTRK1,OPA1,OPA3,OPHN1,PABPN1,PANK2,PDYN,PEX7,PFKM,PGAM2,PHKA1,PHYH,PLEC,PLEKHG5,PLP1,PMM2,PMP22,PNKP,PNPLA6,POLG,POLG2,POMGNT1,POMT1,POMT2,PRKCG,PRPS1,PRX,RYR1,RYR2,SACS,SBF2,SCN4A,SCN9A,SEPN1,SETX,SGCA,SGCB,SGCD,SGCE,SGCG,SH3TC2,SIL1,SLC12A6,SLC16A2,SLC1A3,SLC33A1,SLC39A4,SLC52A2,SLC9A6,SMN1,SOD1,SPAST,SPG11,SPG20,SPG21,SPG7,SPTBN2,SPTLC1,SPTLC2,SUCLA2,SYNE1,TECPR2,TGM6,TK2,TNNI2,TNNT1,TPM2,TPM3,TPP1,TRIM32,TRPV4,TTBK2,TTN,TTPA,TTR,TUBB4A,TYMP,VCP,VLDLR,VPS13A,VPS37A,WNK1,WWOX,XK,ZFYVE27,ZNF592,ACAD9,AFG3L2,AGL,AIFM1,BSCL2,CACNA1A,CYP2U1,CYP7B1,DAG1,DCTN1,DDHD1,ETFB,FA2H,GRM1,GYS1,HADHA,HADHB,PTF1A,PTRF,PYGM,RAB7A,RAPSN,REEP1,RRM2B,RTN2,SYNE2,SYT14,TBP,TCAP,TDP1,VRK1,WFS1,YARS,ZFYVE26 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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