Metabolic Diseases Panel (191 Genes)
| TEST CODE | MGP1280 |
| TEST NAME | Metabolic Diseases Panel (191 Genes) |
| RELATED GENE | ABCB11,ABCB4,ABCC2,ABCD1,ABCG5,ABCG8,ACAD8,ACAD9,ACADL,ACADM,ACADS,AMACR,ARG1,ARL13B,ARL6,ASL,ASS1,ATP8B1,AUH,BAAT,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BCKDHA,BCKDHB,BTD,CBS,CC2D2A,CD320,CEP290,CFTR,CLDN1,CPS1,DHCR7,DLAT,DLD,EHHADH,EPHX1,ETFA,ETFB,ETFDH,EVC,EVC2,FAH,FH,GALE,GALK1,GALT,GAMT,GATM,GCDH,GCH1,GLIS2,GNMT,GPBAR1,HMGCS2,HNF1B,HPD,HSD17B10,HSD17B4,HSD3B7,IDH1,IDH2,IDH3B,IFT80,INVS,IQCB1,IVD,JAG1,LCT,LIPA,LMBRD1,LMF1,LPIN1,MAT1A,MCCC1,MCCC2,MCEE,MKKS,MKS1,MLYCD,MMAA,MMAB,MMACHC,MMADHC,MPV17,MTHFR,MTR,MTRR,MUT,MYO5B,NEK8,NOTCH2,NPC1,NPC2,NPHP1,NPHP3,NPHP4,NR1H4,OFD1,OPA3,OTC,PCK2,PDHA1,PDHB,PDHX,PDP1,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PKD1,PKD2,PKHD1,POLG,PPARG,PTS,QDPR,RPGRIP1L,SCP2,SERPINA1,SLC10A1,SLC10A2,SLC22A5,SLC25A13,SLC25A20,SLC27A5,SLC52A1,SLC52A2,SLC52A3,SLC6A8,SMPD1,SUCLA2,SUCLG1,TAT,TAZ,TCN2,TJP2,TMEM216,TMEM67,TRIM32,TRMU,TTC21B,VPS33B,ACADSB,ACADVL,ACAT1,ACBD5,ACO2,ACSF3,AHCY,AHI1,AKR1D1,ALDH6A1,ALDOB,CPT1A,CPT2,CREB3L3,CYP27A1,CYP7A1,CYP7B1,DBT,DGUOK,HADH,HADHA,HADHB,HLCS,HMGCL,PAH,PC,PCBD1,PCCA,PCCB,TTC8,UGT1A1,VIPAS39 |
| SYNONYMOUS | ABCB11,ABCB4,ABCC2,ABCD1,ABCG5,ABCG8,ACAD8,ACAD9,ACADL,ACADM,ACADS,AMACR,ARG1,ARL13B,ARL6,ASL,ASS1,ATP8B1,AUH,BAAT,BBS1,BBS10,BBS12,BBS2,BBS4,BBS5,BBS7,BBS9,BCKDHA,BCKDHB,BTD,CBS,CC2D2A,CD320,CEP290,CFTR,CLDN1,CPS1,DHCR7,DLAT,DLD,EHHADH,EPHX1,ETFA,ETFB,ETFDH,EVC,EVC2,FAH,FH,GALE,GALK1,GALT,GAMT,GATM,GCDH,GCH1,GLIS2,GNMT,GPBAR1,HMGCS2,HNF1B,HPD,HSD17B10,HSD17B4,HSD3B7,IDH1,IDH2,IDH3B,IFT80,INVS,IQCB1,IVD,JAG1,LCT,LIPA,LMBRD1,LMF1,LPIN1,MAT1A,MCCC1,MCCC2,MCEE,MKKS,MKS1,MLYCD,MMAA,MMAB,MMACHC,MMADHC,MPV17,MTHFR,MTR,MTRR,MUT,MYO5B,NEK8,NOTCH2,NPC1,NPC2,NPHP1,NPHP3,NPHP4,NR1H4,OFD1,OPA3,OTC,PCK2,PDHA1,PDHB,PDHX,PDP1,PEX1,PEX10,PEX11B,PEX12,PEX13,PEX14,PEX16,PEX19,PEX2,PEX26,PEX3,PEX5,PEX6,PEX7,PKD1,PKD2,PKHD1,POLG,PPARG,PTS,QDPR,RPGRIP1L,SCP2,SERPINA1,SLC10A1,SLC10A2,SLC22A5,SLC25A13,SLC25A20,SLC27A5,SLC52A1,SLC52A2,SLC52A3,SLC6A8,SMPD1,SUCLA2,SUCLG1,TAT,TAZ,TCN2,TJP2,TMEM216,TMEM67,TRIM32,TRMU,TTC21B,VPS33B,ACADSB,ACADVL,ACAT1,ACBD5,ACO2,ACSF3,AHCY,AHI1,AKR1D1,ALDH6A1,ALDOB,CPT1A,CPT2,CREB3L3,CYP27A1,CYP7A1,CYP7B1,DBT,DGUOK,HADH,HADHA,HADHB,HLCS,HMGCL,PAH,PC,PCBD1,PCCA,PCCB,TTC8,UGT1A1,VIPAS39 |
| OMIM | |
| HEREDITY | |
| CLINICAL AREA | |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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