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Leukodystrophy Xpanded Panel Gene List (~300 genes)
Note: Xpanded panel gene lists are regularly updated/improved. This list should be considered an approximation only as the gene list is subject to change at any time. The patient’s test report includes a list of genes evaluated and includes a coverage parameter for each gene.
AARS AARS2 ABAT ABCA1 ABCD1 ACADS ACER3 ACOX1
ACY1 ADAR ADGRG1 ADSL AHDC1 AIMP1 ALDH3A2 ALDH6A1
AMN AMPD2 ANK3 AP4B1 AP4S1 APOPT1 ARHGAP31 ARHGEF10
ARNT2 ARSA ASNS ASPA ASXL1 AUH BCAP31 BCS1L
BEST1 BMP4 BRAT1 CARS2 CCDC88A CHMP2B CLCN2 CLN6
CLP1 COL4A1 COL4A2 COX10 COX15 COX7B CPLX1 CSF1R
CTBP1 CTC1 CTDP1 CYP27A1 CYP7B1 D2HGDH DAG1 DARS
DARS2 DDHD2 DEAF1 DHFR DHH DLL4 DNM2 DOCK6
DPYS DYRK1A EARS2 EDNRB EGR2 EIF2B1 EIF2B2 EIF2B3
EIF2B4 EIF2B5 ENTPD1 EOGT EPG5 ERCC2 ERCC3 ERCC6
ERCC8 FA2H FAM126A FBXL4 FGD4 FGFRL1 FIG4 FKRP
FOXC1 FOXG1 FOXRED1 GAA GALC GAN GBE1 GCDH
GDAP1 GFAP GFM1 GJA1 GJB1 GJC2 GLB1 GLUL
GLYCTK GNAO1 GRM7 GRN HEPACAM HEXA HIKESHI HK1
HSD17B4 HSPD1 HTRA1 IBA57 IDUA IER3IP1 IFIH1 ISCA2
ITPA KARS KCNJ10 KCNT1 L2HGDH LAMA1 LAMA2 LAMB1
LARGE1 LETM1 LIPT1 LITAF LMNB1 LRPPRC LYRM7 MAPT
MARS2 MAT1A MCOLN1 MEF2C MLC1 MOCS1 MOCS2 MPV17
MPZ MRPS22 MTFMT MTTP MUT NADK2 NAXE NDRG1
NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA2 NDUFA9 NDUFAF1 NDUFAF2
NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFB3 NDUFB9 NDUFS1 NDUFS2
NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NDUFV3
NEFL NFU1 NGLY1 NOTCH1 NOTCH3 NRXN1 NSD2 NUBPL
OCRL PAFAH1B1 PC PCDH12 PDYN PEX1 PEX10 PEX11B
PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3
PEX5 PEX6 PEX7 PGAP1 PHGDH PHYH PIGA PLEKHG2
PLP1 PMP22 POLG POLR1C POLR3A POLR3B POMK POMT1
PPP2R1A PRKDC PRPS1 PRX PSAP PSEN1 PTEN PURA
PYCR2 QARS RARS RBPJ RMND1 RNASEH2A RNASEH2B RNASEH2C
RNASET2 RNF216 RPIA RPS6KC1 SAMHD1 SBF2 SCP2 SDHA
SDHAF1 SDHB SDHD SEPSECS SH3TC2 SHANK3 SHPK SLC16A2
SLC17A5 SLC1A4 SLC25A1 SLC25A12 SLC25A22 SLC33A1 SLC35A2 SLC46A1
SLC6A8 SNIP1 SOX10 SPATA5 SPG11 SPG20 SPTAN1 SQSTM1
SSR4 STAMBP STAT1 STXBP1 SUMF1 SURF1 SYNE1 TACO1
Page 1
Leukodystrophy Xpanded Panel Gene List (~300 genes)
Note: Xpanded panel gene lists are regularly updated/improved. This list should be considered an approximation only as the gene list is subject to change at any time. The patient’s test report includes a list of genes evaluated and includes a coverage parameter for each gene.
TAF2 TARS2 TM4SF20 TMEM126B TMEM165 TMEM187 TMEM70 TRAPPC9
TREM2 TREX1 TRMT10A TRMT5 TSC1 TSEN54 TUBB2A TUBB4A
TUFM TYMP TYROBP UBE2A UPB1 VARS2 VCP VPS11
WWOX ZEB2 ZFYVE26 ZNF335
© 2018 GeneDx, Inc. All rights reserved. 40374 V2 03/18 Information current as of 03/18
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