Panel 01 · Metabolic & Mitochondrial
Metabolic Core Panel
Core phenotype-driven panel for suspected inherited metabolic disease.
Gene content
All 835 gene symbols in source order
- AARS2
- AASS
- ABAT
- ABCA1
- ABCB11
- ABCB4
- ABCB7
- ABCC2
- ABCC8
- ABCD1
- ABCD3
- ABCD4
- ABCG2
- ABCG5
- ABCG8
- ABHD12
- ABHD5
- ACACA
- ACAD8
- ACAD9
- ACADL
- ACADM
- ACADS
- ACADSB
- ACADVL
- ACAT1
- ACAT2
- ACBD5
- ACO2
- ACOX1
- ACSF3
- ACY1
- ADA
- ADAMTSL2
- ADAR
- ADK
- ADSL
- AFG3L2
- AGA
- AGK
- AGL
- AGPAT2
- AGPS
- AGXT
- AHCY
- AIFM1
- AK2
- AKR1D1
- AKT2
- ALAD
- ALAS2
- ALDH18A1
- ALDH3A2
- ALDH4A1
- ALDH5A1
- ALDH6A1
- ALDH7A1
- ALDOA
- ALDOB
- ALG1
- ALG11
- ALG12
- ALG13
- ALG14
- ALG2
- ALG3
- ALG6
- ALG8
- ALG9
- ALPL
- AMACR
- AMN
- AMPD1
- AMPD3
- AMT
- ANO10
- ANO5
- AP1S1
- AP5Z1
- APOA1
- APOA5
- APOB
- APOC2
- APOC3
- APOE
- APRT
- APTX
- ARG1
- ARSA
- ARSB
- ARSE
- ASAH1
- ASL
- ASNS
- ASPA
- ASS1
- ATAD3A
- ATIC
- ATL1
- ATP13A2
- ATP2A2
- ATP6AP2
- ATP6V0A2
- ATP7A
- ATP7B
- ATP8B1
- ATPAF2
- AUH
- B3GALNT2
- B3GALT6
- B3GAT3
- B3GLCT
- B4GALNT1
- B4GALT1
- B4GALT7
- B4GAT1
- BAAT
- BCAT2
- BCHE
- BCKDHA
- BCKDHB
- BCKDK
- BCO1
- BCS1L
- BOLA3
- BPGM
- BSCL2
- BSND
- BTD
- C12orf65
- C19orf12
- C1GALT1C1
- CA2
- CACNA1S
- CAMKMT
- CASR
- CAT
- CAV1
- CAV3
- CAVIN1
- CBS
- CD320
- CDAN1
- CETP
- CHKB
- CHST14
- CHST3
- CHST6
- CHSY1
- CIDEC
- CISD2
- CLCN6
- CLCN7
- CLDN16
- CLDN19
- CLN3
- CLN5
- CLN6
- CLN8
- CLPB
- CLPP
- CNNM2
- COA5
- COA6
- COASY
- COG1
- COG2
- COG3
- COG4
- COG5
- COG6
- COG7
- COG8
- COL4A1
- COQ2
- COQ5
- COQ6
- COQ8A
- COQ9
- COX10
- COX14
- COX15
- COX4I1
- COX4I2
- COX6B1
- COX7B
- CP
- CPOX
- CPS1
- CPT1A
- CPT2
- CREB3L3
- CSGALNACT1
- CSTB
- CTH
- CTNS
- CTSA
- CTSC
- CTSD
- CTSK
- CUBN
- CYP27A1
- CYP7A1
- CYP7B1
- D2HGDH
- DAG1
- DARS2
- DBH
- DBT
- DCC
- DCXR
- DDC
- DDOST
- DGUOK
- DHCR24
- DHCR7
- DHDDS
- DHFR
- DHODH
- DHTKD1
- DLAT
- DLD
- DMD
- DMGDH
- DMPK
- DNAJC19
- DNAJC30
- DNAJC5
- DNM1L
- DNM2
- DOLK
- DPAGT1
- DPM1
- DPM2
- DPM3
- DPYD
- DPYS
- DSE
- DYM
- DYSF
- EARS2
- EBP
- EGF
- EHHADH
- ELAC2
- ELOVL4
- ENO3
- EOGT
- EPHX1
- EPM2A
- ETFA
- ETFB
- ETFDH
- ETHE1
- EXT1
- EXT2
- FA2H
- FAH
- FARS2
- FASTKD2
- FBP1
- FBXL4
- FECH
- FGF23
- FGFR2
- FH
- FKRP
- FKTN
- FLAD1
- FMO3
- FOLR1
- FOXRED1
- FTCD
- FTL
- FUCA1
- FUT8
- FXN
- FXYD2
- G6PC
- G6PC3
- GAA
- GABRG2
- GALC
- GALE
- GALK1
- GALNS
- GALNT2
- GALNT3
- GALT
- GAMT
- GARS
- GATA1
- GATM
- GBA
- GBE1
- GCDH
- GCH1
- GCK
- GCLC
- GDAP1
- GFER
- GFM1
- GFPT1
- GGCX
- GIF
- GK
- GLA
- GLB1
- GLDC
- GLRA1
- GLRB
- GLRX5
- GLUD1
- GLUL
- GLYCTK
- GM2A
- GMPPA
- GMPPB
- GNE
- GNMT
- GNPAT
- GNPTAB
- GNPTG
- GNS
- GORAB
- GPC3
- GPD1
- GPHN
- GPI
- GPIHBP1
- GRHPR
- GRID2
- GRM1
- GRN
- GSS
- GSTZ1
- GTPBP3
- GUSB
- GYG1
- GYS1
- GYS2
- HADH
- HADHA
- HADHB
- HAL
- HAMP
- HARS2
- HCCS
- HCFC1
- HES7
- HEXA
- HEXB
- HFE
- HGD
- HGSNAT
- HIBCH
- HJV
- HLCS
- HMBS
- HMGCL
- HMGCS2
- HMOX1
- HNF1A
- HNF1B
- HNF4A
- HOGA1
- HPD
- HPRT1
- HPS1
- HRAS
- HSD11B2
- HSD17B10
- HSD17B4
- HSD3B7
- HSPA9
- HSPD1
- HTRA2
- HYAL1
- IDH2
- IDS
- IDUA
- IER3IP1
- IFIH1
- IMPDH2
- INSR
- ISCU
- ISPD
- ITPA
- IVD
- KARS
- KCNA1
- KCNJ10
- KCNJ11
- KCNJ2
- KCTD7
- KHK
- KIF1A
- KL
- KYNU
- L2HGDH
- LAMA2
- LAMP2
- LARGE1
- LARS2
- LBR
- LCAT
- LCT
- LDB3
- LDHA
- LDHB
- LDLR
- LDLRAP1
- LETM1
- LFNG
- LIAS
- LIG3
- LIPA
- LIPC
- LMBRD1
- LMF1
- LMNA
- LPIN1
- LPL
- LRPPRC
- MAGT1
- MAN1B1
- MAN2B1
- MANBA
- MAOA
- MARS2
- MAT1A
- MCCC1
- MCCC2
- MCEE
- MCOLN1
- MESP2
- MFF
- MFN2
- MFSD8
- MGAT2
- MICU1
- MLYCD
- MMAA
- MMAB
- MMACHC
- MMADHC
- MOCOS
- MOCS1
- MOCS2
- MOGS
- MPC1
- MPDU1
- MPI
- MPV17
- MRPL3
- MRPL44
- MRPS16
- MRPS22
- MSMO1
- MSTO1
- MT-ATP6
- MT-ATP8
- MT-CO1
- MT-CO2
- MT-CO3
- MT-CYB
- MT-ND1
- MT-ND2
- MT-ND3
- MT-ND4
- MT-ND4L
- MT-ND5
- MT-ND6
- MT-RNR1
- MT-RNR2
- MT-TA
- MT-TC
- MT-TD
- MT-TE
- MT-TF
- MT-TG
- MT-TH
- MT-TI
- MT-TK
- MT-TL1
- MT-TL2
- MT-TM
- MT-TN
- MT-TP
- MT-TQ
- MT-TR
- MT-TS1
- MT-TS2
- MT-TT
- MT-TV
- MT-TW
- MT-TY
- MTFMT
- MTHFD1
- MTHFR
- MTHFS
- MTO1
- MTPAP
- MTR
- MTRR
- MTTP
- MUT
- MVK
- MYO5B
- MYOT
- NAGA
- NAGLU
- NAGS
- NARS2
- NAT8L
- NBAS
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA4
- NDUFA6
- NDUFA8
- NDUFA9
- NDUFAF1
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFB3
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEU1
- NFU1
- NGLY1
- NHLRC1
- NNT
- NPC1
- NPC2
- NR1H4
- NR4A2
- NSDHL
- NT5C3A
- NT5E
- NUBPL
- OAT
- OBSCN
- OCRL
- ODC1
- OPA1
- OPA3
- OPLAH
- OTC
- OXCT1
- PAH
- PANK2
- PC
- PCBD1
- PCCA
- PCCB
- PCK2
- PCSK9
- PDHA1
- PDHB
- PDHX
- PDP1
- PDSS1
- PDSS2
- PEPD
- PEX1
- PEX10
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PEX7
- PFKM
- PGAM2
- PGAP2
- PGAP3
- PGK1
- PGM1
- PHGDH
- PHKA1
- PHKA2
- PHKB
- PHKG2
- PHYH
- PIGA
- PIGL
- PIGM
- PIGN
- PIGO
- PIGT
- PIGV
- PINK1
- PKLR
- PLA2G6
- PLIN1
- PMM2
- PNLIP
- PNP
- PNPLA2
- PNPLA6
- PNPO
- PNPT1
- POLG
- POLG2
- POLRMT
- POMGNT1
- POMGNT2
- POMK
- POMT1
- POMT2
- POR
- POU3F4
- PPA2
- PPARG
- PPM1B
- PPM1K
- PPOX
- PPT1
- PREPL
- PRKAG2
- PRKAG3
- PRODH
- PRPS1
- PSAP
- PSAT1
- PSENEN
- PSPH
- PSTPIP1
- PTF1A
- PTS
- PUS1
- PYCR1
- PYGL
- PYGM
- QDPR
- RAI1
- RANBP2
- RARS2
- RBP4
- RFT1
- RMND1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RPIA
- RPL10
- RRM2B
- RTN4IP1
- RXYLT1
- RYR1
- SACS
- SAMHD1
- SAR1B
- SARDH
- SARS2
- SC5D
- SCARB1
- SCARB2
- SCN4A
- SCO1
- SCO2
- SCP2
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEC23B
- SERAC1
- SERPINA1
- SETX
- SGSH
- SI
- SIK1
- SIL1
- SKIV2L
- SLC10A1
- SLC11A2
- SLC12A3
- SLC13A5
- SLC16A1
- SLC16A12
- SLC17A5
- SLC19A2
- SLC19A3
- SLC1A1
- SLC22A12
- SLC22A5
- SLC25A1
- SLC25A12
- SLC25A13
- SLC25A15
- SLC25A19
- SLC25A20
- SLC25A22
- SLC25A3
- SLC25A38
- SLC25A4
- SLC27A5
- SLC2A1
- SLC2A2
- SLC2A9
- SLC30A10
- SLC31A1
- SLC33A1
- SLC35A1
- SLC35A2
- SLC35A3
- SLC35C1
- SLC35D1
- SLC36A2
- SLC37A4
- SLC39A4
- SLC3A1
- SLC40A1
- SLC46A1
- SLC52A1
- SLC52A2
- SLC52A3
- SLC5A1
- SLC5A2
- SLC6A18
- SLC6A19
- SLC6A20
- SLC6A3
- SLC6A5
- SLC6A8
- SLC6A9
- SLC7A7
- SLC7A9
- SLCO1B1
- SLCO1B3
- SMPD1
- SPG7
- SPR
- SPTLC1
- SPTLC2
- SRD5A3
- ST3GAL3
- ST3GAL5
- STEAP3
- STS
- STT3A
- STT3B
- SUCLA2
- SUCLG1
- SUGCT
- SUMF1
- SUOX
- SURF1
- TACO1
- TALDO1
- TAT
- TAZ
- TBC1D4
- TCN1
- TCN2
- TDO2
- TF
- TFAM
- TFB1M
- TFR2
- TH
- TIMM8A
- TJP2
- TK2
- TMEM126A
- TMEM165
- TMEM70
- TPK1
- TPMT
- TPP1
- TREH
- TREX1
- TRIM37
- TRMU
- TRNT1
- TRPM6
- TRPM7
- TSFM
- TTC19
- TTC37
- TTPA
- TUFM
- TUSC3
- TWNK
- TYMP
- UCP2
- UGGT1
- UGT1A1
- UMOD
- UMPS
- UPB1
- UQCRB
- UQCRFS1
- UQCRQ
- UROC1
- UROD
- UROS
- USF1
- UTP4
- VIPAS39
- VKORC1
- VPS33B
- WDR45
- WFS1
- XDH
- XPNPEP3
- XYLT1
- XYLT2
- YARS2
- ZMPSTE24
Gene symbols are reproduced from the department’s current NGS panel source document (PANEL LİSTESİ V9), in source order. No symbol has been added, removed, renamed or expanded, and none has been reconciled against an earlier edition of the catalogue or against an external gene database. Panel titles, gene counts and gene content are published as confirmed by the department. Panel composition may be revised; the version in force at the time of testing applies.