Genetic Testing Company | The DNA Diagnostic Experts | GeneDx

Genes for which GeneDx offers tests

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A2ML1

AAAS

AARS

AARS2

ABCA12

ABCA4

ABCB11

ABCB4

ABCB7

ABCC6

ABCC9

ABCD1

ABCD4

ABHD5

ACAD8

ACAD9

ACADM

ACADS

ACADSB

ACADVL

ACAT1

ACO2

ACSF3

ACTA1

ACTA2

ACTB

ACTC1

ACTG1

ACTN2

ACVRL1

ADA

ADAMTS2

ADCK3 (CABC1; COQ8)

ADCK4

ADGRG1

ADSL

AFG3L2

AGA

AGK

AGL

AGPS

AGRN

AHI1

AICDA

AIFM1

AIPL1

AIRE

AK2

AKAP9

AKT3

ALAS2

ALDH18A1

ALDH3A2

ALDH7A1

ALDOA

ALDOB

ALG1

ALG11

ALG13

ALG2

ALG3

ALG6

ALG9

ALK

ALMS1

ALOX12B

ALOXE3

ALPK3

AMACR

ANK2

ANKRD1

ANKRD11

ANO5

AP1S1

AP4B1

AP4E1

AP4M1

AP4S1

APC

APOB

APOPT1

APTX

AR

ARFGEF2

ARG1

ARHGEF9

ARID1B

ARL13B

ARSA

ARSB

ARSE

ARX

ASL

ASPA

ASPM

ASS1

ATL1

ATM

ATP1A2

ATP2A1

ATP2A2

ATP2C1

ATP5A1

ATP5E

ATP6AP2

ATP6V0A2

ATP7A

ATP7B

ATP8B1

ATPAF2 (ATP12)

ATR

ATRX

AUH

AXIN2

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B3GALNT2

B3GALT6

B3GNT1

B4GALNT1

B4GALT1

B4GALT7

B9D1

BAG3

BAP1

BARD1

BCKDHA

BCKDHB

BCOR

BCS1L

BEST1

BICD2

BIN1

BLM

BMP15

BMPR1A

BMPR2

BOLA3

BRAF

BRCA1

BRCA2

BRIP1

BSCL2

BTD

BTK

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C10ORF2

C12ORF65

C19orf12

C5orf42

CA5A

CABP4

CACNA1A

CACNA1C

CACNA1F

CACNA1S

CACNA2D1

CACNB2

CALM1

CALM2

CALM3

CAPN3

CARS2

CASK

CASP10

CASP8

CASQ2

CASR

CAV1

CAV3

CBL

CBS

CC2D2A

CCM2

CCND2

CD320

CD3D

CD3E

CD3Z

CD40

CD40LG

CDC73 (HRPT2)

CDH1

CDH23

CDK4

CDK5RAP2

CDKL5

CDKN2A

CENPJ

CEP152

CEP290

CEP41

CERKL

CERS3

CFL2

CHAT

CHD2

CHD7

CHEK2

CHKB

CHM

CHMP1A

CHRM2

CHRNA1

CHRNA2

CHRNA4

CHRNA7

CHRNB1

CHRNB2

CHRND

CHRNE

CHST14

CISD2

CLCN1

CLCN5

CLDN1

CLN3

CLN5

CLN6

CLN8

CLP1

CLPB

CLRN1

CNBP

CNGA1

CNGA3

CNGB3

CNTN1

CNTNAP2

COA5 (C2ORF64)

COA6

COASY

COG4

COG5

COG6

COG7

COG8

COL11A1

COL11A2

COL17A1

COL1A1

COL1A2

COL2A1

COL3A1

COL4A5

COL5A1

COL5A2

COL6A1

COL6A2

COL6A3

COL7A1

COL9A1

COL9A2

COLQ

COMP

COQ2

COQ4

COQ6

COQ9

CORO1A

COX10

COX14 (C12ORF62)

COX15

COX20 (FAM36A)

COX4I2

COX6A1

COX6B1

COX7B

CPS1

CPT1A

CPT2

CRB1

CREBBP

CRTAP

CRX

CRYAB

CSPP1

CSRP3

CSTB

CTSC

CTSD

CUL4B

CYBA

CYBB

CYC1

CYP17A1

CYP19A1

CYP1B1

CYP27A1

CYP27B1

CYP2U1

CYP4F22

CYP7B1

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DAG1

DARS

DARS2

DBT

DCDC1

DCLRE1C (ARTEMIS)

DCX

DDHD1

DDHD2

DDOST

DES

DFNB31 (WHRN)

DGUOK

DHCR7

DHH

DICER1

DKC1

DLAT

DLD

DLL3

DMD

DMGDH

DMP1

DMPK

DNA2

DNAJB2

DNAJB6

DNAJC19

DNAJC5

DNM1

DNM1L

DNM2

DNMT1

DOCK8

DOK7

DOLK

DPAGT1

DPM1

DPM2

DPM3

DSC2

DSE

DSG2

DSP

DTNA

DYNC1H1

DYNC2H1

DYRK1A

DYSF

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EARS2

EBP

ECHS1

EDA1

EDAR

EDARADD

EEF1A2

EFEMP2

EFNB1

EGR2

EHMT1

EIF2AK4

ELAC2

ELANE (ELA2)

ELN

ELOVL4

ELP4

EMD

ENG

ENO3

EPCAM

EPM2A

ERLIN2

ERMARD

ETFA

ETFB

ETFDH

ETHE1

EVC

EVC2

EXOSC3

EXT1

EXT2

EYA1

EYS

EZH2

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F12

FA2H

FAH

FAM134B

FANCC

FARS2

FAS (TNFRSF6)

FASTKD2

FAT4

FBLN5

FBN1

FBN2

FBP1

FBXL4

FDX1L

FGD4

FGF23

FGF8

FGFR1

FGFR2

FGFR3

FH

FHL1

FIG4

FIGLA

FKBP14

FKRP

FKTN

FLAD1

FLCN

FLG

FLNA

FLNB

FLNC

FMR1

FOLR1

FOXC1

FOXE3

FOXG1

FOXN1

FOXRED1

FRMD7

FSHR

FUCA1

FZD4

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G6PC

GAA

GABRA1

GABRB2

GABRB3

GABRG2

GALC

GALK1

GALNS

GALT

GAMT

GAN

GARS

GATA1

GATAD1

GATM

GBA2

GBE1

GCDH

GCH1

GCK

GDAP1

GDF2

GDF9

GFAP

GFER

GFM1 (EFG1)

GFM2

GFPT1

GJB1

GJB2 (Cx26)

GJB3 (Cx31)

GJB4 (Cx30.3)

GJB6 (Cx30)

GJC2

GK

GLA

GLB1

GLI3

GLRX5

GLUD1

GMPPA

GMPPB

GNAT1

GNE

GNPAT

GNRH1

GNRHR

GNS

GOSR2

GPC3

GPD1L

GPR98

GPSM2

GRIN1

GRIN2A

GRIN2B

GRM6

GSS

GTPBP3

GUCA1A

GUCY2D

GYG1

GYG2

GYS1

GYS2

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HADH

HADHA

HADHB

HARS2

HAX1

HCFC1

HCN4

HDAC8

HESX1

HEXA

HEXB

HGSNAT

HIBCH

HINT1

HLCS

HMGCL

HMGCS2

HNF1A

HNF1B

HNF4A

HNRNPU

HOXB13

HOXD13

HPD

HPS1

HPS3

HRAS

HSD17B10

HSPB1

HSPB8

HSPD1

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IARS2

IBA57

IER3IP1

IFITM5

IFT172

IGHMBP2

IKBKAP

IKBKG (NEMO)

IL2RG

IL7R

ILK

IMPDH1

INF2

INPP5E

IQSEC2

IRAK4

IRF6

ISCA2

ISCU

ISPD

ITGA6

ITGA7

ITGB2

ITGB4

IVD

Ichthyin(NIPAL4)

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JAG1

JAK3

JPH2

JUP

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KAL1

KANSL1

KAT6B

KBTBD13

KCNB1

KCND3

KCNE1

KCNE1L

KCNE2

KCNE3

KCNH2

KCNJ10

KCNJ2

KCNJ5

KCNJ8

KCNQ1

KCNQ2

KCNQ3

KCNT1

KCTD7

KIAA0196

KIAA1279 (KIF1BP)

KIF1A

KIF1C

KIF2A

KIF5A

KIF5C

KIF7

KISS1

KISS1R

KLHL40

KMT2D

KRAS

KRIT1

KRT1

KRT10

KRT13

KRT14

KRT16

KRT17

KRT2

KRT4

KRT5

KRT6A

KRT6B

KRT9

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L1CAM

LAMA2

LAMA3

LAMA4

LAMB1

LAMB3

LAMC2

LAMC3

LAMP2

LARGE

LARS

LARS2

LDB3

LDHA

LDLR

LDLRAP1

LEPRE1

LGI1

LHCGR

LIAS

LIG4

LIPA

LIPN

LIPT1

LITAF

LMBR1

LMBRD1

LMNA

LOR

LPIN1

LPIN2

LRP5

LRPPRC

LRSAM1

LTBP4

LYRM4

LYRM7

LZTR1

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MAGI2

MAP2K1

MAP2K2

MARS

MARS2

MAT1A

MAT2A

MAX

MBD5

MBTPS2

MCCC1

MCCC2

MCEE

MCOLN1

MCPH1

MECP2

MED12

MEF2C

MEFV

MEGF10

MEN1

MET

MFAP5

MFF

MFN2

MFSD8

MGAT2

MGME1

MIB1

MICU1

MITF

MKS1

MLH1

MLYCD

MMAA

MMAB

MMACHC

MMADHC (C2ORF25)

MOGS

MPC1 (BRP44L)

MPDU1

MPI

MPL

MPV17

MPZ

MRPL12

MRPL3

MRPL44

MRPS16

MRPS22

MRPS7

MSH2

MSH6

MTFMT

MTHFR

MTM1

MTMR2

MTND1

MTND5

MTND6

MTO1

MTPAP

MTR

MTRR

MTTD Mitochondrial

MTTG

MTTH

MTTI

MTTK

MTTL1

MTTL2

MTTM

MTTQ

MTTS1

MTTS2

MURC

MUSK

MUT

MUTYH

MVK

MYBPC3

MYCN

MYH11

MYH6

MYH7

MYL2

MYL3

MYLK

MYLK2

MYO7A

MYOC

MYOT

MYOZ2

MYPN

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NADK2

NAGLU

NAGS

NARS2

NBN

NCF1 (Exon 2)

NCF2

NDE1

NDP

NDRG1

NDUFA1

NDUFA10

NDUFA11

NDUFA12

NDUFA2

NDUFA4

NDUFA9

NDUFAF1

NDUFAF2

NDUFAF3 (C3ORF60)

NDUFAF4 (C6ORF66)

NDUFAF5

NDUFAF6

NDUFAF7 (C2ORF56)

NDUFB3

NDUFB9

NDUFS1

NDUFS2

NDUFS3

NDUFS4

NDUFS6

NDUFS7

NDUFS8

NDUFV1

NDUFV2

NEB

NEBL

NEFL

NEK1

NEU1

NEXN

NF1

NF2

NFIX

NFS1

NFU1

NGF

NGLY1

NHEJ1

NHLRC1

NIPA1

NIPBL

NKX2-5

NLRP3 (CIAS1)

NOBOX

NOTCH1

NPC1

NPC2

NPHP1

NPHP3

NR0B1

NR2E3

NR2F1

NR5A1

NRAS

NRXN1

NSD1

NSMF (NELF)

NT5C2

NTRK1

NUBPL

NYX

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OCLN

OCRL

OFD1 (CXORF5)

OPA1

OPA3

OPHN1

OPTN

ORAI1

OTC

OTX2

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PABPN1

PAFAH1B1

PAH

PALB2

PARS2

PAX2

PAX6

PC

PCCA

PCCB

PCDH15

PCDH19

PCNT

PCSK9

PDCD10

PDE6A

PDE6B

PDHA1

PDHB

PDHX

PDLIM3

PDP1

PDSS1

PDSS2

PDX1

PEPD

PET100

PEX7

PFKM

PGAM2

PGM1

PHEX

PHF6

PHKA1

PHKA2

PHKB

PHKG2

PHOX2B

PHYH

PIGA

PIGO

PIGV

PITX2

PKP2

PLCB1

PLEC

PLEC1

PLEKHG5

PLN

PLOD1

PLP1

PMM2

PMP22

PMS2

PNKP

PNP

PNPLA1

PNPLA2

PNPLA6

PNPO

PNPT1

POLD1

POLE

POLG

POLG2

POMGNT1

POMGNT2

POMK

POMP

POMT1

POMT2

POR

PORCN

PPIB

PPT1

PQBP1

PRDM16

PRDM5

PRICKLE1

PRKAG2

PRKAR1A

PRKDC

PRKG1

PROK2

PROKR2

PRPF3

PRPF31

PRPF8

PRPS1

PRRT2

PRX

PSAP

PSMC3IP

PSTPIP1

PTCH1

PTEN

PTPN11

PTPRC

PTRH2

PTS

PUS1

PYCR1

PYGM

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QARS

QDPR

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RAB18

RAB3GAP1

RAB3GAP2

RAB7A

RAC2

RAD21

RAD51C

RAD51D

RAF1

RAG1

RAG2

RAI1

RANBP2

RANGRF

RAPSN

RARS

RARS2

RASA1

RAX

RB1

RBBP8

RBM20

RDH5

RDS (PRPH2)

REEP1 (C2ORF23)

RELN

RET

RFT1

RHO

RIN2

RIT1

RLBP1

RMND1

RMRP

RNASEH2A

RNASEH2B

RNASEH2C

RP1

RP2

RPE65

RPGRIP1

RPGRIP1L

RPL11

RPL15

RPL26

RPL35A

RPL5

RPS10

RPS17

RPS19

RPS24

RPS26

RPS29

RPS7

RRM2B

RSK2

RSK2 (RPS6KA3)

RTN2

RTTN

RYR1

RYR2

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SAG

SALL1

SALL4

SARS2

SBDS

SBF2

SCARB2

SCG5/GREM1

SCN10A

SCN1A

SCN1B

SCN2A

SCN2B

SCN3B

SCN4A

SCN4B

SCN5A

SCN8A

SCN9A

SCO1

SCO2

SDHA

SDHAF1

SDHAF2

SDHB

SDHC

SDHD

SEPN1

SEPSECS

SERAC1

SERPING1 (C1INH)

SFXN4

SGCA

SGCB

SGCD

SGCG

SGSH

SH3BP2

SH3TC2

SHH

SHOC2

SIL1

SIX1

SIX3

SIX6

SKI

SLC12A6

SLC13A5

SLC16A2

SLC17A5

SLC19A2

SLC19A3

SLC22A5

SLC25A1

SLC25A13

SLC25A15

SLC25A19

SLC25A20

SLC25A22

SLC25A3 (PHC)

SLC25A38

SLC25A4

SLC26A2

SLC26A4

SLC27A4

SLC2A1

SLC2A10

SLC2A2

SLC35A1

SLC35A2

SLC35C1

SLC37A4

SLC39A13

SLC52A2

SLC6A8

SLC7A7

SLC9A6

SMAD3

SMAD4

SMAD9

SMARCA4

SMARCB1

SMC1A

SMC3

SMPD1

SNAP29

SNTA1

SOS1

SOS2

SOX2

SOX9

SPAST

SPG11

SPG20

SPG21

SPG7

SPINK5

SPR

SPRED1

SPTAN1

SPTLC1

SPTLC2

SRD5A2

SRD5A3

SRPX2

SRY

SSR4

ST14

STAT3

STIL

STIM1

STK11

STRA6

STS

STT3A

STT3B

STXBP1

SUCLA2

SUCLG1

SUFU

SUMF1

SURF1

SYNE1

SYNGAP1

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TAC3

TACO1

TACR3

TARS2

TAT

TAZ

TBC1D20

TBC1D24

TBX1

TBX5

TCAP

TCF4

TCOF1

TCTN1

TCTN2

TCTN3

TECPR2

TERC

TERT

TFG

TGFB2

TGFB3

TGFBR1

TGFBR2

TGIF

TGM1

TGM5

TH

TIMM8A

TINF2

TK2

TMEM126A

TMEM127

TMEM138

TMEM165

TMEM216

TMEM231

TMEM237

TMEM43

TMEM5

TMEM67

TMEM70

TMPO

TNFRSF1A

TNNC1

TNNI2

TNNI3

TNNT1

TNNT2

TNPO3

TP53

TP63 (TP73L)

TPK1

TPM1

TPM2

TPM3

TPP1 (CLN2)

TRDN

TREX1

TRIM32

TRIP11

TRIT1

TRMU

TRNT1

TRPM1

TRPM4

TRPV4

TSC1

TSC2

TSEN2

TSEN34

TSEN54

TSFM

TSPAN12

TTC19

TTC21B

TTN

TTR

TUBA1A

TUBA8

TUBB

TUBB2A

TUBB2B

TUBB3

TUBB4A

TUBG1

TUFM

TXNRD2

TYK2

TYMP

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UBA1

UBE3A

UNG

UPF3B

UQCC2

UQCC3

UQCRB

UQCRC2

UQCRQ

USH1C

USH1G

USH2A

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VARS2

VCL

VHL

VLDLR

VPS13B (COH1)

VPS33B

VPS37A

VPS53

VRK1

VSX2 (CHX10)

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WAS

WDR45

WDR62

WFS1

WNK1

WNT10A

WT1

WWOX

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XLRS1 (RS1)

XRCC2

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YARS

YARS2

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ZAP70

ZEB2

ZFYVE26

ZIC2

ZMPSTE24

ZNF469

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