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What do we test for?

Eugene’s carrier test only includes serious and actionable conditions.

The conditions we screen for are serious, actionable and relevant to know about:

Details for clinicans —

This test includes:

  • All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
  • Full gene sequencing with deletion and duplication analysis.
  • Actionable results;no reporting of variants of unknown significance
  • Enhanced Spinal Muscular Atrophy (SMA) testing to help identify silent carriers.
  • Severe and prevalent conditions seen across all ethnicities
  • Reports can be issued for an individual and also together as a couple in a combined couples report.

There are two types of conditions on Eugene’s carrier test:

Complete list of conditions tested —

Name Gene
CYP11B1
CYP17A1
CYP21A2
HSD3B2
HMGCL
MTTP
ACAD9
CNGB3
SLC39A4
ADA
ABCD1
SAMHD1
CYP11B2
MAN2B1
HBA1, HBA2
ATRX
COL4A3
COL4A4
COL4A5
ALMS1
SLC12A6
ARG1
ASL
CYP19A1
ASNS
AGA
ATM
TTPA
AIRE
LOXHD1
SACS
BBS10
BBS12
BBS1
BBS2
BSND
ACAT1
BLM
ASPA
CPS1
CPT1A
CPT2
RAB23
RMRP
CYP27A1
CFTR(5T)
NDRG1
GJB1
VPS13A
CHM
CYBA
CYBB
SLC25A13
ASS1
ERCC8
ERCC6
VPS13B
ACSF3
GFM1
TSFM
LHX3
PROP1
PSAP
MPL
ALG6
MPI
PMM2
TGM1
NTRK1
CHRNE
RAPSN
HAX1
SLC4A11
SLC6A8
CFTR
CTNS
HSD17B4
DHDDS
DLD
ATP6V1B1
DMD
DYSF
RTEL1
COL7A1
ADAMTS2
EVC2
EVC
EMD
ETHE1
GLA
F9
LPL
ELP1
LDLRAP1
LDLR
ABCC8
KCNJ11
FANCA
FANCC
FANCG
FKRP
FKTN
FMR1
FH
GALK1
GALT
GBA
SLC12A3
GJB2
GCDH
ETFA
ETFDH
AMT
GLDC
G6PC
SLC37A4
AGL
GAA
GBE1
PYGM
PFKM
BCS1L
GAMT
HBB
ALDOB
TFR2
HPS1
HPS3
HEXA
HLCS
CBS
MTRR
MTHFR
HYLS1
SLC25A15
EDA
ALPL
GNE
IVD
TMEM216
RPGRIP1L
LAMA3
LAMB3
LAMC2
HJV
RS1
GALC
LAMA2
CEP290
RDH12
RPE65
LCA5
CRB1
GLE1
EIF2B5
CAPN3
SGCG
SGCA
SGCB
STAR
HADHA
SLC7A7
LIPA
CIITA
BCKDHA
BCKDHB
DBT
ACADM
MLC1
ATP7A
ARSA
MMAA
MMAB
MUT
MMACHC
MMADHC
VSX2
NDUFAF5
NDUFS6
LRPPRC
MPV17
PUS1
TYMP
MKS1
GNPTG
GNPTAB
MCOLN1
IDS
SGSH
NAGLU
HGSNAT
GNS
IDUA
GLB1
HYAL1
ARSB
SUMF1
MTM1
NAGS
NEB
AQP2
NPHS1
NPHS2
CLN3
CLN5
CLN6
MFSD8
CLN8
PPT1
TPP1
SMPD1
NPC1
NPC2
NBN
NR2E3
OPA3
OAT
OTC
TCIRG1
SLC26A4
ACOX1
PAH
PHGDH
PKHD1
ADGRG1
POMGNT1
RARS2
SEPSECS
VRK1
MED17
SLC22A5
DNAH5
DNAI1
DNAI2
AGXT
GRHPR
HOGA1
ABCB11
PCCA
PCCB
PRPS1
CTSK
PC
PDHA1
PDHB
EYS
CERKL
FAM161A
PEX7
AGPS
ESCO2
HEXB
SMARCAL1
DCLRE1C
RAG2
IL2RG
VPS45
SLC17A5
ALDH3A2
SLC26A2
SLC35A3
DHCR7
ZFYVE26
TECPR2
SMN1
MESP2
COL27A1
LIFR
PTS
TRMU
TH
FAH
TAT
PCDH15
MYO7A
USH1C
CDH23
USH2A
CLRN1
ACADVL
ATP7B
WNT10A
XPA
XPC
PEX10
PEX12
PEX1
PEX2
PEX6

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