The following genes are available for single gene deletion duplication analysis. Please reference our test requisitions to identify groups of genes that are available for deletion duplication analysis as a complement to our NGS panels.
|
AARS2 |
AK1 AK2 AK7 AKR1D1 ALAS2 ALDH18A1 ALDOA ALDOB ALG8 ALMS1 AMACR ANK1 ANK2 ANKRD26 ANKS6 ANO6 AP3B1 AP3D1 ARMC4 ARPC1B ATM ATP11C ATP7B ATP8B1 ATR ATRX |
| B3GAT3 BAAT BAG3 BBS1 BBS10 BBS2 BCL11B BCOR BGN |
BLM BLOC1S3 BLOC1S6 BMPR2 BPGM BRAF BRCA1 BRCA2 BRIP1 |
|
C15orf41 |
CFD CFH CFHR5 CFI CFP CFTR CHD7 CHST14 CHST8 CIITA CITED2 CLDN1 CLPB CLRN1 COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COL4A1 COL5A1 COL7A1 COX15 CPA1 CPT1A CPT2 CREBBP CRELD1 CSF3R CTC1 CTLA4 CTPS1 CTRC CXCR4 CYCS CYP27A1 CYP7A1 CYP7B1 |
| DCDC2 DCLRE1C DECR1 DES DGKE DGUOK DHCR7 DIAPH1 DKC1 DMD DNAAF1 DNAAF2 DNAAF3 DNAAF4 (DYX1C1) DNAAF5 (HEATR2) DNAH1 DNAH11 |
DNAH5 DNAH8 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC21 DNAL1 DOCK8 DOLK DRC1 DSC2 DSP DST DTNBP1 DZIP1L |
| EFEMP2 EFTUD2 EGLN1 EHHADH EIF2AK3 EIF2AK4 ELAC2 ELANE ELN EMD ENG ENO3 EPAS1 EPB41 EPB42 |
EPG5 EPHX1 EPO EPOR ERCC4 ERCC6L2 ETFA ETFB ETFDH ETV6 EVC EVC2 EXPH5 EYA1 EYA4 |
|
FAAP100 |
FBP1 FERMT1 FGFR2 FHL1 FKBP14 FKRP FKTN FLI1 FLNA FLNB FLNC FOXC1 FOXC2 FOXF1 FOXI1 FOXN1 FOXP3 FYB1 |
| G6PC G6PC3 G6PD GAA GAS2L2 GAS8 GATA1 GATA2 GATA4 GATA6 GATAD1 GBE1 GCLC GFI1 GFI1B GGCX GJA1 GJA5 |
GJB2 GJB6 GLA GLB1 GLI3 GP1BA GP1BB GPBAR1 GPC3 GPI GPX1 GSR GSS GYG1 GYPC GYS1 GYS2 |
| HADH HADHA HADHB HAX1 HES7 HK1 HMGCL HNF1A HNF1B |
HOXA11 HPS1 HPS3 HPS4 HRAS HSD17B10 HSD17B4 HSD3B7 HYDIN |
| IL2RG IL7R INVS ITGA2 ITGA2B |
ITGA3 ITGA6 ITGB3 ITGB4 ITK |
| JAG1 JAGN1 JAK2 |
JAK3 JPH3 JUP |
| KAT6B KCNA5 KCNH2 KCNJ10 KCNJ2 KCNN4 |
KCNQ1 KIF23 KIF7 KLF1 KRAS KRT5 |
| LAMA3 LAMB3 LAMC2 LAMP2 LAMTOR2 LAT LIPA LMNA |
LPIN1 LPIN2 LRBA LRP5 LRRC56 LRRC6 LTBP3 LYST |
| MAGT1 MAP2K2 MASTL MECOM MED12 MED13L MEGF8 MEIS2 MKKS MKL1 (MRTFA) MKS1 MLPH MLYCD MMACHC MMP21 MPI |
MPL MPV17 MSN MTO1 MYBPC3 MYCN MYH11 MYH7 MYH9 MYLK MYO5B MYO6 MYO7A MYOZ2 MYSM1 |
| NAF1 NBEA NBEAL2 NBN NDUFAF2 NEK8 NEUROG3 NEXN NF1 NF2 NFU1 NIPBL NKX2-5 NKX2-6 NME8 NODAL |
NOTCH1 NOTCH2 NPC1 NPC2 NPHP1 NPHP3 NPHP4 NPPA NR1H4 NR2F2 NRAS NSD1 NSMCE3 NSUN2 NT5C3A NUP155 |
| OFD1 ORAI1 |
OTOF OXCT1 |
| P2RX1 P2RY12 PALB2 PANK2 PARN PC PCCA PCCB PCDH15 PCK1 PCK2 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PFKM PGAM2 PGK1 PGM1 PHKA1 PHKA2 PHKB PHKG2 |
PIEZO1 PIH1D3 PIK3CD PIK3R2 PITX2 PKD1L1 PKD2 PKHD1 PKLR PKP1 PKP2 PLA2G4A PLEC1 (PLEC) PLG PLN PLOD1 PNP POLG POU3F4 PPARG PQBP1 PRDM16 PRF1 PRKACG PRKAG2 PRKCSH PRKDC PRSS1 PTEN PTPN11 PTPRC PYGL PYGM |
| RAB27A RAC2 RAD51 RAD51C RAF1 RAG1 RAG2 RAI1 RASA1 RASGRP1 RASGRP2 RBM10 RBM8A RFX5 RFXANK RFXAP RHAG RMND1 RNF168 RPL11 |
RPL26 |
| SALL4 SBDS SCN5A SCO2 SCP2 SEC23B SEC63 SEMA3E SERPINA1 SGCD SH2D1A SHOC2 SIX1 SIX5 SLC10A1 SLC10A2 SLC22A5 SLC25A13 SLC25A20 SLC25A4 SLC26A4 SLC27A5 SLC2A1 SLC2A10 SLC2A2 SLC39A13 SLC4A1 |
SLC52A2 SLC52A3 SLC7A7 SLFN14 SLX4 SMAD3 SMPD1 SOS1 SOX17 SOX2 SOX7 SPAG1 SPINK1 SPRED1 SPTA1 SPTB SRP72 STAT3 STAT5B STIM1 STK4 STN1 STRC STX11 STXBP2 SURF1 |
|
TAB2 |
TGFBR1 TGFBR2 TGM5 THBD THPO TJP2 TMC1 TMEM216 TMIE TMPRSS3 TNNI3 TNXB TP53 TPI1 TPM1 TRDN TRMU TSC1 TSC2 TTC25 TTC7A TUBB1 TWIST1 |
| UBE2T UBR1 UGT1A1 UNC13D |
USB1 USH1C USH1G USH2A |
| VHL VIPAS39 VPS13A |
VPS13B VPS33B VPS45 |
| WAS WDR1 WHRN (DFNB31) |
WIPF1 WRAP53 |
| XIAP XK |
XRCC2 |
|
ZAP70 |
ZMPSTE24 ZNF469 |
3333 Burnet Avenue, Cincinnati, Ohio 45229-3026
© 1999-2023 Cincinnati Children's Hospital Medical Center. All rights reserved.
