Conditions screened

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:

Serious genetic conditions

Conditions that impact a child’s life expectancy or development and have limited treatment options.

Results are actionable

Where the knowledge of being a carrier can open up options to avoid passing on the condition.

Relevant to everyone

An expanded condition list making this test relevant for people of all ethnicities & backgrounds.

Some additional 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.

Getting specific about the conditions tested

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

1. Recessive conditions

Recessive conditions cover the majority of conditions that are on the test. Carriers of recessive conditions are completely healthy and show no signs of the condition. However, if both parents are carriers of the same condition, there’s a one in four chance that their children would have the condition.

A couple of important things to note are that most people are carriers of one or more genetic conditions; And most children born with a recessive condition showed no family history of it.

2. X-linked conditions

For x-linked conditions the sex of the parent who passes on the variant influences the risk for the children. They are generally passed on from carrier mothers and more commonly affect boys.

If the mum is a healthy carrier and they have a son, there is a 50% chance that the child could be affected by the condition. If they have a daughter, there is a a 50% chance that they will be a healthy carrier — like her mum.

Our honesty policy

The (not so) fine print.

What this test CAN DO:

Help people better understand their risk and make informed pregnancy choices.
The majority of people are not carriers so it provides reassurance and peace of mind to most.
To those that are carriers, it helps them know their risk in advance and even prevent the condition in the first place.
Honestly, it helps people avoid the “wish I had known about this before” feeling that we are, unfortunately, all too familiar with.

What this test CANNOT DO:

Diagnose you, your partner, or your child with a genetic condition.
Change your genetics in any way.
Affect your ability to get health insurance – phew.
Completely / 100% rule out the risk of passing on a condition.
Screen for down syndrome or autism.
Determine the sex of your child.

Complete list of conditions tested —

Name	Gene
11-beta-hydroxylase-deficient congenital adrenal hyperplasia	CYP11B1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia	CYP17A1
21-hydroxylase deficient congenital adrenal hyperplasia	CYP21A2
3-beta-hydroxysteroid dehydrogenase type II deficient congenital adrenal hyperplasia	HSD3B2
3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency	HMGCL
Abetalipoproteinemia	MTTP
ACAD9 deficiency	ACAD9
Achromatopsia (CNGB3-related)	CNGB3
Acrodermatitis enteropathica	SLC39A4
Adenosine deaminase deficiency	ADA
Adrenoleukodystrophy, X-linked	ABCD1
Aicardi-Goutieres syndrome (SAMHD1-related)	SAMHD1
Aldosterone synthase deficiency	CYP11B2
Alpha-mannosidosis	MAN2B1
Alpha thalassemia	HBA1, HBA2
Alpha-thalassemia X-linked intellectual disability syndrome	ATRX
Alport syndrome (COL4A3-related)	COL4A3
Alport syndrome (COL4A4-related)	COL4A4
Alport syndrome, X-linked (COL4A5-related)	COL4A5
Alström syndrome	ALMS1
Andermann syndrome	SLC12A6
Arginase deficiency	ARG1
Argininosuccinic aciduria	ASL
Aromatase deficiency	CYP19A1
Asparagine synthetase deficiency	ASNS
Aspartylglucosaminuria	AGA
Ataxia-telangiectasia	ATM
Ataxia with vitamin E deficiency	TTPA
Autoimmune polyendocrinopathy with candidiasis and ectodermal dysplasia	AIRE
Autosomal recessive deafness 77 (DFNB77)	LOXHD1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)	SACS
Bardet-Biedl syndrome (BBS10-related)	BBS10
Bardet-Biedl syndrome (BBS12-related)	BBS12
Bardet-Biedl syndrome (BBS1-related)	BBS1
Bardet-Biedl syndrome (BBS2-related)	BBS2
Bartter syndrome type IV	BSND
Beta-ketothiolase deficiency	ACAT1
Bloom syndrome	BLM
Canavan disease	ASPA
Carbamoylphosphate synthetase I deficiency	CPS1
Carnitine palmitoyltransferase I deficiency	CPT1A
Carnitine palmitoyltransferase II deficiency	CPT2
Carpenter syndrome	RAB23
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders	RMRP
Cerebrotendinous xanthomatosis	CYP27A1
CFTR-related conditions	CFTR(5T)
Charcot-Marie-Tooth disease (NDRG1-related)	NDRG1
Charcot-Marie-Tooth disease, X-linked (GJB1-related)	GJB1
Chorea-acanthocytosis	VPS13A
Choroideremia	CHM
Chronic granulomatous disease (CYBA-related)	CYBA
Chronic granulomatous disease (CYBB-related)	CYBB
Citrin deficiency	SLC25A13
Citrullinemia type 1	ASS1
Cockayne syndrome type A	ERCC8
Cockayne syndrome type B	ERCC6
Cohen syndrome	VPS13B
Combined malonic and methylmalonic aciduria (ACSF3-related)	ACSF3
Combined oxidative phosphorylation deficiency (GFM1-related)	GFM1
Combined oxidative phosphorylation deficiency (TSFM-related)	TSFM
Combined pituitary hormone deficiency (LHX3-related)	LHX3
Combined pituitary hormone deficiency (PROP1-related)	PROP1
Combined SAP deficiency	PSAP
Congenital amegakaryocytic thrombocytopenia	MPL
Congenital disorders of glycosylation (ALG6-related)	ALG6
Congenital disorders of glycosylation (MPI-related)	MPI
Congenital disorders of glycosylation (PMM2-related)	PMM2
Congenital ichthyosis (TGM1-related)	TGM1
Congenital insensitivity to pain with anhidrosis	NTRK1
Congenital myasthenic syndrome (CHRNE-related)	CHRNE
Congenital myasthenic syndrome (RAPSN-related)	RAPSN
Congenital neutropenia (HAX1-related)	HAX1
Corneal dystrophy and perceptive deafness	SLC4A11
Creatine transporter deficiency, X-linked	SLC6A8
Cystic fibrosis	CFTR
Cystinosis	CTNS
D-bifunctional protein deficiency	HSD17B4
DHDDS-related disorders (including congenital disorder of glycoslylation/retinitis pigmentosa 59)	DHDDS
Dihydrolipoamide dehydrogenase deficiency (DLD)	DLD
Distal renal tubular acidosis with deafness (ATP6V1B1-related)	ATP6V1B1
DMD-related dystrophinopathy (including Duchenne/Becker muscular dystrophy and dilated cardiomyopathy)	DMD
Dysferlinopathy (including limb-girdle muscular dystrophy type 2B)	DYSF
Dyskeratosis congenita spectrum disorders (RTEL1-related)	RTEL1
Dystrophic epidermolysis bullosa (COL7A1-related)	COL7A1
Ehlers-Danlos syndrome type VIIC	ADAMTS2
Ellis-van Creveld syndrome (EVC2-related)	EVC2
Ellis-van Creveld syndrome (EVC-related)	EVC
Emery-Dreifuss muscular dystrophy (EMD-related)	EMD
Ethylmalonic encephalopathy	ETHE1
Fabry disease	GLA
Factor IX deficiency (hemophilia B)	F9
Familial chylomicronemia syndrome/lipoprotein lipase deficiency	LPL
Familial dysautonomia	ELP1
Familial hypercholesterolemia (LDLRAP1-related)	LDLRAP1
Familial hypercholesterolemia (LDLR-related)	LDLR
Familial hyperinsulinism (ABCC8-related)	ABCC8
Familial hyperinsulinism (KCNJ11-related)	KCNJ11
Fanconi anemia type A	FANCA
Fanconi anemia type C	FANCC
Fanconi anemia type G	FANCG
FKRP-related disorders (including Walker-Warburg syndrome)	FKRP
FKTN-related disorders (including Walker-Warburg syndrome)	FKTN
Fragile X syndrome	FMR1
Fumarate hydratase deficiency	FH
Galactokinase deficiency galactosemia	GALK1
Galactosemia	GALT
Gaucher disease	GBA
Gitelman syndrome	SLC12A3
GJB2-related conditions (including DFNB1 nonsyndromic hearing loss and deafness)	GJB2
Glutaric acidemia type I	GCDH
Glutaric acidemia type II (ETFA-related)	ETFA
Glutaric acidemia type II (ETFDH-related)	ETFDH
Glycine encephalopathy (AMT-related)	AMT
Glycine encephalopathy (GLDC-related)	GLDC
Glycogen storage disease type Ia	G6PC
Glycogen storage disease type Ib	SLC37A4
Glycogen storage disease type III	AGL
Glycogen storage disease type II (Pompe disease)	GAA
Glycogen storage disease type IV/adult polyglucosan body disease	GBE1
Glycogen storage disease type V	PYGM
Glycogen storage disease type VII	PFKM
GRACILE syndrome/BCS1L-related disorders (including mitochondrial complex III deficiency, Bjornstad syndrome, Leigh syndrome)	BCS1L
Guanidinoacetate methyltransferase deficiency	GAMT
HBB-related hemoglobinopathies (inc. beta thalassemia and sickle cell disease)	HBB
Hereditary fructose intolerance	ALDOB
Hereditary hemochromatosis (TFR2-related)	TFR2
Hermansky-Pudlak syndrome (HPS1-related)	HPS1
Hermansky-Pudlak syndrome (HPS3-related)	HPS3
Hexosaminidase A deficiency (Tay-Sachs disease)	HEXA
Holocarboxylase synthetase deficiency	HLCS
Homocystinuria (CBS-related)	CBS
Homocystinuria, cobalamin E type	MTRR
Homocystinuria due to MTHFR deficiency	MTHFR
Hydrolethalus syndrome type 1	HYLS1
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome	SLC25A15
Hypohidrotic ectodermal dysplasia (EDA-related)	EDA
Hypophosphatasia	ALPL
Inclusion body myopathy 2	GNE
Isovaleric acidemia	IVD
Joubert syndrome 2/TMEM216-related disorders	TMEM216
Joubert syndrome 7/RPGRIP1L-related disorders	RPGRIP1L
Junctional epidermolysis bullosa (LAMA3-related)	LAMA3
Junctional epidermolysis bullosa (LAMB3-related)	LAMB3
Junctional epidermolysis bullosa (LAMC2-related)	LAMC2
Juvenile hemochromatosis	HJV
Juvenile retinoschisis, X-linked	RS1
Krabbe disease	GALC

Name	Gene
LAMA2-related muscular dystrophy	LAMA2
Leber congenital amaurosis 10/CEP290-related conditions	CEP290
Leber congenital amaurosis 13	RDH12
Leber congenital amaurosis 2	RPE65
Leber congenital amaurosis 5	LCA5
Leber congenital amaurosis 8/CRB1-related disorders	CRB1
Lethal congenital contracture syndrome 1/lethal arthrogryposis with anterior horn cell disease	GLE1
Leukoencephalopathy with vanishing white matter (EIF2B5-related)	EIF2B5
Limb-girdle muscular dystrophy type 2A (calpainopathy)	CAPN3
Limb-girdle muscular dystrophy type 2C	SGCG
Limb-girdle muscular dystrophy type 2D	SGCA
Limb-girdle muscular dystrophy type 2E	SGCB
Lipoid congenital adrenal hyperplasia	STAR
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency	HADHA
Lysinuric protein intolerance	SLC7A7
Lysosomal acid lipase deficiency	LIPA
Major histocompatibility complex class II deficiency	CIITA
Maple syrup urine disease (MSUD) type 1A	BCKDHA
Maple syrup urine disease (MSUD) type 1B	BCKDHB
Maple syrup urine disease (MSUD), type 2	DBT
Medium chain acyl-CoA dehydrogenase (MCAD) deficiency	ACADM
Megalencephalic leukoencephalopathy with subcortical cysts type 1	MLC1
Menkes disease/ATP7A-related disorders (including occipital horn syndrome and distal hereditary motor neuropathy)	ATP7A
Metachromatic leukodystrophy	ARSA
Methylmalonic acidemia (MMAA-related)	MMAA
Methylmalonic acidemia (MMAB-related)	MMAB
Methylmalonic acidemia (MUT-related)	MUT
Methylmalonic acidemia with homocystinuria, cobalamin C type	MMACHC
Methylmalonic acidemia with homocystinuria, cobalamin D type	MMADHC
Microphthalmia/clinical anophthalmia	VSX2
Mitochondrial complex I deficiency/Leigh syndrome (NDUFAF5-related)	NDUFAF5
Mitochondrial complex I deficiency/Leigh syndrome (NDUFS6-related)	NDUFS6
Mitochondrial complex IV deficiency/Leigh syndrome, French Canadian type	LRPPRC
Mitochondrial DNA depletion syndrome	MPV17
Mitochondrial myopathy and sideroblastic anemia 1	PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease	TYMP
MKS1-related disorders	MKS1
Mucolipidosis type III (GNPTG-related)	GNPTG
Mucolipidosis type II/III (GNPTAB-related)	GNPTAB
Mucolipidosis type IV	MCOLN1
Mucopolysaccharidosis type II (Hunter syndrome)	IDS
Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)	SGSH
Mucopolysaccharidosis type IIIB	NAGLU
Mucopolysaccharidosis type IIIC (Sanfilippo syndrome)/retinitis pigmentosa 73	HGSNAT
Mucopolysaccharidosis type IIID (Sanfilippo syndrome)	GNS
Mucopolysaccharidosis type I (including Hurler, Hurler-Scheie, and Scheie syndromes)	IDUA
Mucopolysaccharidosis type IVB/ GM1 gangliosidosis	GLB1
Mucopolysaccharidosis type IX	HYAL1
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)	ARSB
Multiple sulfatase deficiency	SUMF1
Myotubular myopathy, X-linked	MTM1
N-acetylglutamate synthase deficiency	NAGS
Nemaline myopathy 2	NEB
Nephrogenic diabetes insipidus (AQP2-related)	AQP2
Nephrotic syndrome/congenital Finnish nephrosis (NPHS1-related)	NPHS1
Nephrotic syndrome/steroid-resistant nephrotic syndrome (NPHS2-related)	NPHS2
Neuronal ceroid-lipofuscinosis (CLN3-related)	CLN3
Neuronal ceroid-lipofuscinosis (CLN5-related)	CLN5
Neuronal ceroid-lipofuscinosis (CLN6-related)	CLN6
Neuronal ceroid-lipofuscinosis (MFSD8-related)	MFSD8
Neuronal ceroid-lipofuscinosis/northern epilepsy (CLN8-related)	CLN8
Neuronal ceroid-lipofuscinosis (PPT1-related)	PPT1
Neuronal ceroid-lipofuscinosis (TPP1-related)	TPP1
Niemann-Pick disease type A/B	SMPD1
Niemann-Pick disease type C (NPC1-related)	NPC1
Niemann-Pick disease type C (NPC2-related)	NPC2
Nijmegen breakage syndrome	NBN
NR2E3-related conditions (including enhanced S-cone syndrome)	NR2E3
OPA3-related conditions (including 3-methylglutaconic aciduria type III/Costeff syndrome)	OPA3
Ornithine aminotransferase deficiency	OAT
Ornithine transcarbamylase (OTC) deficiency	OTC
Osteopetrosis (TCIRG1-related)	TCIRG1
Pendred syndrome	SLC26A4
Peroxisomal acyl-CoA oxidase deficiency	ACOX1
Phenylalanine hydroxylase deficiency (including PKU)	PAH
Phosphoglycerate dehydrogenase deficiency/Neu-Laxova syndrome	PHGDH
Polycystic kidney disease (PKHD1-related)	PKHD1
Polymicrogyria (ADGRG1-related)	ADGRG1
POMGNT1-related disorders (including muscle eye brain disease)	POMGNT1
Pontocerebellar hypoplasia (RARS2-related)	RARS2
Pontocerebellar hypoplasia (SEPSECS-related)	SEPSECS
Pontocerebellar hypoplasia (VRK1-related)	VRK1
Postnatal progressive microcephaly with seizures and brain atrophy/infantile cerebral and cerebellar atrophy (MED17-related)	MED17
Primary carnitine deficiency	SLC22A5
Primary ciliary dyskinesia (DNAH5-related)	DNAH5
Primary ciliary dyskinesia (DNAI1-related)	DNAI1
Primary ciliary dyskinesia (DNAI2-related)	DNAI2
Primary hyperoxaluria type 1	AGXT
Primary hyperoxaluria type 2	GRHPR
Primary hyperoxaluria type 3	HOGA1
Progressive familial intrahepatic cholestasis type 2	ABCB11
Propionic acidemia (PCCA-related)	PCCA
Propionic acidemia (PCCB-related)	PCCB
PRPS1-related conditions (including Charcot-Marie-Tooth disease type 5 and Arts syndrome)	PRPS1
Pycnodysostosis	CTSK
Pyruvate carboxylase deficiency	PC
Pyruvate dehydrogenase deficiency (PDHA1-related)	PDHA1
Pyruvate dehydrogenase deficiency (PDHB-related)	PDHB
Retinitis pigmentosa 25	EYS
Retinitis pigmentosa 26	CERKL
Retinitis pigmentosa 28	FAM161A
Rhizomelic chondrodysplasia punctata type 1/Refsum disease (PEX7-related)	PEX7
Rhizomelic chondrodysplasia punctata type 3	AGPS
Roberts syndrome	ESCO2
Sandhoff disease	HEXB
Schimke immuno-osseous dysplasia	SMARCAL1
Severe combined immune deficiency (DCLRE1C-related)	DCLRE1C
Severe combined immunodeficiency/Omenn syndrome (RAG2-related)	RAG2
Severe combined immunodeficiency, X-linked (X-SCID)	IL2RG
Severe congenital neutropenia (VPS45-related)	VPS45
Sialic acid storage conditions	SLC17A5
Sjögren-Larsson syndrome	ALDH3A2
SLC26A2-related conditions (including diastrophic dysplasia, atelosteogenesis type 2, achondrogenesis type 1B/multiple metaphyseal dysplasia)	SLC26A2
SLC35A3-related conditions	SLC35A3
Smith-Lemli-Opitz syndrome	DHCR7
Spastic paraplegia type 15	ZFYVE26
Spastic paraplegia type 49	TECPR2
Spinal muscular atrophy	SMN1
Spondylothoracic dysostosis	MESP2
Steel syndrome	COL27A1
Stüve-Wiedemann syndrome	LIFR
Tetrahydrobiopterin deficiency (PTS-related)	PTS
Transient infantile liver failure (TRMU-related)	TRMU
Tyrosine hydroxylase deficiency	TH
Tyrosinemia type I	FAH
Tyrosinemia type II	TAT
Usher syndrome type 1F/PCDH15-related conditions	PCDH15
Usher syndrome type IB	MYO7A
Usher syndrome type IC/USH1C-related conditions	USH1C
Usher syndrome type ID	CDH23
Usher syndrome type IIA/USH2A-related conditions	USH2A
Usher syndrome type IIIA	CLRN1
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency	ACADVL
Wilson disease	ATP7B
WNT10A-related conditions	WNT10A
Xeroderma pigmentosum (complementation group A)	XPA
Xeroderma pigmentosum (complementation group C)	XPC
Zellweger spectrum disorder (PEX10-related)	PEX10
Zellweger spectrum disorder (PEX12-related)	PEX12
Zellweger spectrum disorder (PEX1-related)	PEX1
Zellweger spectrum disorder (PEX2-related)	PEX2
Zellweger spectrum disorder (PEX6-related)	PEX6

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