Encephalopathies (mitochondrial/epileptic)
Genes Tested 462 Genes
- AARS2
- ABCB7
- ABCD1
- ABHD5
- ACAD9
- ACADM
- ACADS
- ACADVL
- ACO2
- ACOX1
- ACTG2
- ADAR
- ADGRV1
- AFG2A
- AFG3L2
- AGK
- AGL
- AGRN
- AIFM1
- AIMP1
- ALAS2
- ALDH3A2
- ALDH7A1
- ALG14
- ALG2
- AMACR
- ANO10
- APTX
- ARG1
- ARHGEF9
- ARSA
- ARX
- ASAH1
- ASPA
- ATP13A2
- ATP1A2
- ATP1A3
- ATP5F1A
- ATP5F1E
- ATP7B
- ATPAF2
- AUH
- BCS1L
- BOLA3
- C19orf12
- CACNA1A
- CACNA1H
- CACNB4
- CAD
- CARS2
- CASR
- CCDC115
- CDKL5
- CHAT
- CHCHD10
- CHD2
- CHD8
- CHKB
- CHRNA1
- CHRNA2
- CHRNA4
- CHRNB1
- CHRNB2
- CHRND
- CHRNE
- CISD2
- CLCN4
- CLN3
- CLN5
- CLN6
- CLP1
- CLPB
- CLPP
- COA5
- COA8
- COL4A1
- COL4A2
- COLQ
- COQ2
- COQ4
- COQ6
- COQ7
- COQ8A
- COQ8B
- COQ9
- COX10
- COX14
- COX15
- COX4I2
- COX6B1
- COX8A
- CP
- CPT1A
- CPT2
- CSF1R
- CSTB
- CTSD
- CYP27A1
- D2HGDH
- DARS2
- DCAF17
- DEPDC5
- DGUOK
- DLAT
- DLD
- DNA2
- DNAJC12
- DNAJC19
- DNAJC3
- DNM1L
- DNM2
- DOCK7
- DOK7
- DPAGT1
- DPM2
- DYRK1A
- EARS2
- ECHS1
- EEF1A2
- EFHC1
- EIF2AK3
- EIF2B1
- EIF2B2
- EIF2B3
- EIF2B4
- EIF2B5
- EMC1
- EPG5
- EPM2A
- ETFA
- ETFB
- ETFDH
- ETHE1
- EXOSC8
- FA2H
- FARS2
- FASTKD2
- FBXL4
- FDX2
- FLAD1
- FOLR1
- FOXG1
- FOXRED1
- FRRS1L
- FTL
- FUCA1
- GABRA1
- GABRB1
- GABRB3
- GABRD
- GABRG2
- GALC
- GAMT
- GARS1
- GBE1
- GCDH
- GDAP1
- GFAP
- GFER
- GFM1
- GFPT1
- GJA1
- GJC2
- GLDC
- GLUD1
- GM2A
- GMPPB
- GNAO1
- GNB1
- GOSR2
- GPHN
- GPR88
- GRIK2
- GRIN2A
- GRIN2D
- GTPBP3
- HADH
- HARS2
- HCFC1
- HCN1
- HEPACAM
- HEXA
- HEXB
- HIBCH
- HNRNPDL
- HNRNPU
- HSD17B4
- HSPD1
- HYCC1
- IARS2
- IBA57
- ISCA2
- ISCU
- KARS1
- KCNA2
- KCNB1
- KCNC1
- KCND3
- KCNH5
- KCNQ2
- KCNQ3
- KCNT1
- KCTD17
- KCTD7
- KIF21A
- KIF5A
- KMT2B
- L2HGDH
- LAMA2
- LAMP2
- LARS1
- LARS2
- LGI1
- LIAS
- LMNB1
- LMNB2
- LONP1
- LRP4
- LRPPRC
- LYRM7
- MARS2
- MBD5
- MCEE
- MCOLN1
- MECP2
- MEF2C
- MFN2
- MGME1
- MICU1
- MLC1
- MMAA
- MMAB
- MMACHC
- MMUT
- MOCS1
- MOCS2
- MPV17
- MRE11
- MRPL44
- MRPS16
- MRPS22
- MRPS7
- MTFMT
- MTHFR
- MTM1
- MTO1
- MTPAP
- MTRFR
- MUSK
- MYBPC1
- NADK2
- NARS2
- NBAS
- NDUFA1
- NDUFA10
- NDUFA11
- NDUFA12
- NDUFA13
- NDUFA2
- NDUFA9
- NDUFAF1
- NDUFAF2
- NDUFAF3
- NDUFAF4
- NDUFAF5
- NDUFAF6
- NDUFB11
- NDUFB3
- NDUFB9
- NDUFS1
- NDUFS2
- NDUFS3
- NDUFS4
- NDUFS6
- NDUFS7
- NDUFS8
- NDUFV1
- NDUFV2
- NEDD4L
- NEU1
- NFU1
- NHLRC1
- NKX6-2
- NOL3
- NPC1
- NPC2
- NPRL2
- NPRL3
- NUBPL
- OPA1
- OPA3
- OTC
- PABPN1
- PANK2
- PARS2
- PC
- PCCA
- PCCB
- PCDH19
- PDGFB
- PDHA1
- PDHB
- PDHX
- PDP1
- PDSS1
- PDSS2
- PEX1
- PEX10
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PEX5
- PEX6
- PHGDH
- PITRM1
- PLA2G6
- PLCB1
- PLP1
- PMPCA
- PNKP
- PNPLA2
- PNPO
- PNPT1
- POLG
- POLG2
- POLR1A
- POLR1C
- POLR3A
- POLR3B
- PPT1
- PRDM8
- PREPL
- PRICKLE1
- PRICKLE2
- PRIMA1
- PRRT2
- PSAP
- PSAT1
- PTRH2
- PURA
- PUS1
- PYCR2
- QARS1
- RANBP2
- RAPSN
- RARS1
- RARS2
- RELN
- RMND1
- RNASEH1
- RNASEH2A
- RNASEH2B
- RNASEH2C
- RNASET2
- RRM2B
- RYR1
- SAMHD1
- SARS2
- SCARB2
- SCN1A
- SCN1B
- SCN2A
- SCN3A
- SCN8A
- SCO1
- SCO2
- SDHA
- SDHAF1
- SDHAF2
- SDHB
- SDHC
- SDHD
- SEPSECS
- SERAC1
- SGCE
- SIK1
- SLC13A5
- SLC16A2
- SLC17A5
- SLC19A2
- SLC19A3
- SLC1A4
- SLC20A2
- SLC22A5
- SLC25A12
- SLC25A19
- SLC25A20
- SLC25A22
- SLC25A26
- SLC25A3
- SLC25A38
- SLC25A4
- SLC25A42
- SLC25A46
- SLC2A1
- SLC33A1
- SLC6A1
- SLC6A8
- SOX10
- SPG7
- SPTAN1
- STAMBP
- STAT2
- STX1B
- STXBP1
- SUCLA2
- SUCLG1
- SUMF1
- SURF1
- SYNE1
- SYNGAP1
- SYNJ1
- SYT1
- SZT2
- TACO1
- TAFAZZIN
- TALDO1
- TANGO2
- TARS2
- TBC1D24
- TBCD
- TBCE
- TIMM8A
- TK2
- TMEM126A
- TMEM70
- TPK1
- TPP1
- TREX1
- TRIT1
- TRMT5
- TRMU
- TRNT1
- TSFM
- TTC19
- TUBB2A
- TUBB3
- TUBB4A
- TUFM
- TWNK
- TXN2
- TYMP
- UBE3A
- UBTF
- UNC13A
- UQCRB
- UQCRC2
- UQCRQ
- VAC14
- VARS2
- VPS11
- VPS13D
- WDR45
- WFS1
- XPNPEP3
- XRCC4
- YARS2
For the following gene, a dosage analysis is also included.
Test Information
Test Code |
265.02 |
Genes Tested |
462 Genes |
Method(s) |
Next Generation Sequencing (NGS) |
Sample Requirements |
2-4 ml EDTA blood Please click here for more detailed information |
Turnaround Time |
3-6 weeks |