Genetics and Genomics Diagnostic Laboratory
Targeted Deletion and Duplication Analysis | Search for a Gene

Search for a Gene Available for Deletion / Duplication Testing

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
ABCB11
ABCB4
ABCB7
ABCC2
ABCD3
ABCG5
ABCG8
ACAD9
ACADM
ACADS
ACADVL
ACAT1

ACTB
ACTC1
ACTN1
ACVRL1
ADA
ADA2
ADAMTS10
ADAMTS13
ADAMTS2
ADAMTSL4
ADGRV1 (GPR98)
AGK
AGL

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
C21orf59 (CFAP298)
C3
C4BPA
C5
CALR
CASP10
CASP8
CASQ2
CASR
CAV3
CBL
CBS
CC2D2A
CCDC103
CCDC11
CCDC151
CCDC39
CCDC40
CCDC65
CCNO
CD151
CD247
CD27

CD3D
CD3E
CD40LG
CD46
CD55
CD59
CDAN1
CDH23
CDSN
CENPF
CFAP300
CFB
CFC1

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
FADD
FAH
FANCA
FANCB
FANCC
FANCD2
FANCE
FANCF
FANCG
FANCI
FANCL
FANCM
FAS
FASLG
FBLN5
FBN1
FBN2 

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

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
RPL35
RPL35A
RPL5
RPL9
RPS10
RPS15
RPS19
RPS26
RPS27
RPS27A
RPS7
RSPH1
RSPH3
RSPH4A
RSPH9
RTEL1
RUNX1
RYR2

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
TANGO2
TAP1
TAP2
TAZ
TBCK
TBX1
TBX20
TBX3
TBX4
TBX5
TBXA2R
TBXAS1
TCIRG1
TCN2
TCTN2

TERF1
TERF2
TERF2IP
TERT
TGDS
TGFB2

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
ZFPM2
ZIC3

ZMPSTE24
ZNF469