What do we test for?

Eugene's carrier test only includes serious and actionable diseases.

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

Serious genetic diseases

Diseases 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 disease.

Relevant to everyone

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

Some additional details for clinicans —

This test includes:

  • All disorders 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 disorders 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 diseases tested

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

1. Recessive diseases

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

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 disease showed no family history of it.

More about recessive diseases

2. X-linked diseases

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 disease. If they have a daughter, there is a a 50% chance that they will be a healthy carrier — like her mum.

More about x-linked diseases
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 disease 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 disease or 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 disease.
  • Screen for down syndrome or autism.
  • Determine the sex of your child.

Complete list of diseases tested —

Name Gene
11-beta-hydroxylase-deficient congenital adrenal hyperplasia CYP11B1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia CYP17A1
3-beta-hydroxysteroid dehydrogenase type II deficiency (Congenital adrenal hyperplasia) HSD3B2
3-hydroxy-3-methylglutarayl-CoA (HMG-CoA) lyase deficiency HMGCL
3-methylglutaconic aciduria type III (Costeff optic atrophy) OPA3
Abetalipoproteinemia MTTP
ACAD9 deficiency ACAD9
Achromatopsia (CNGB3-related) CNGB3
Acrodermatitis enteropathica SLC39A4
Adenosine deaminase deficiency ADA
Aicardi-Goutieres syndrome (SAMHD1-related) SAMHD1
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 with vitamin E deficiency TTPA
Ataxia-telangiectasia ATM
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 (BBS1-related) BBS1
Bardet-Biedl syndrome (BBS10-related) BBS10
Bardet-Biedl syndrome (BBS12-related) BBS12
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
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 disorder of glycosylation (ALG6-related) ALG6
Congenital disorder 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
Corticosterone methyloxidase deficiency CYP11B2
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
DMD-related dystrophinopathy (Including Duchenne/Becker muscular dystrophy and Dilated cardiomyopathy) DMD
Dysferlinopathy (including Limb-girdle muscular dystrophy type 2B) DYSF
Dystrophic epidermolysis bullosa (COL7A1-related) COL7A1
Ehlers-Danlos syndrome type VIIC ADAMTS2
Ellis-van Creveld syndrome (EVC-related) EVC
Ellis-van Creveld syndrome (EVC2-related) EVC2
Emery-Dreifuss muscular dystrophy (EMD-related) EMD
Enhanced S-cone syndrome/ Retinitis pigmentosa 37 NR2E3
Ethylmalonic encephalopathy ETHE1
Fabry disease GLA
Factor IX deficiency (Hemophilia B) F9
Familial dysautonomia IKBKAP
Familial hypercholesterolemia (LDLR-related) LDLR
Familial hypercholesterolemia (LDLRAP1-related) LDLRAP1
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
Fragile X syndrome FMR1
Fumarate hydratase deficiency FH
Galactokinase deficiency galactosemia GALK1
Galactosemia GALT
Gaucher disease GBA
Gitelman syndrome SLC12A3
GJB2-related 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 II (Pompe disease) GAA
Glycogen storage disease type III AGL
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 (including 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
Holocarboxylase synthetase deficiency HLCS
Homocystinuria (CBS-related) CBS
Homocystinuria due to MTHFR deficiency MTHFR
Homocystinuria, cobalamin E type MTRR
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
Junctional epidermolysis bullosa (LAMA3-related) LAMA3
Junctional epidermolysis bullosa (LAMB3-related) LAMB3
Junctional epidermolysis bullosa (LAMC2-related) LAMC2
Krabbe disease GALC
LAMA2-related muscular dystrophy LAMA2
Leber congenital amaurosis 10/ CEP290-related disorders CEP290
Leber congenital amaurosis 13 RDH12
Leber congenital amaurosis 2 RPE65
Leber congenital amaurosis 5 LCA5
Leber congenital amaurosis 8/ CRB1-related disorders CRB1
Leigh syndrome, French Canadian type LRPPRC
Lethal congenital contracture syndrome 1 / Lethal arthrogryposis with anterior horn cell disease GLE1
Leukoencephalopathy with vanishing white matter (EIF2B5-related) EIF2B5
Name Gene
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
Lipoprotein lipase deficiency LPL
Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency HADHA
Lysinuric protein intolerance SLC7A7
Lysosomal acid lipase deficiency (includes Wolman disease and Cholesterol ester storage disease) 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 DNA depletion syndrome MPV17
Mitochondrial myopathy and sideroblastic anemia 1 PUS1
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease TYMP
MKS1-related disorders MKS1
Mucolipidosis type II/III (GNPTAB-related) GNPTAB
Mucolipidosis type III (GNPTG-related) GNPTG
Mucolipidosis type IV MCOLN1
Mucopolysaccharidosis type I (includes Hurler, Hurler-Scheie, and Scheie syndromes) IDUA
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 IVB (Morquio B syndrome)/ GM1 gangliosidosis GLB1
Mucopolysaccharidosis type IX HYAL1
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) ARSB
Multiple sulfatase deficiency SUMF1
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 (TPP1-related) TPP1
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 (PPT1-related) PPT1
Neuronal ceroid-lipofuscinosis/ Northern epilepsy (CLN8-related) CLN8
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
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 Phenylketonuria (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 disorders (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
Renal tubular acidosis with deafness (ATP6V1B1-related) ATP6V1B1
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
RPGRIP1L-related disorders (including Joubert syndrome 7, COACH syndrome and Meckel syndrome 5) RPGRIP1L
RTEL-1-related disorders (including Dyskeratosis congenita) RTEL1
Sandhoff disease HEXB
Schimke immuno-osseous dysplasia SMARCAL1
Severe combined immune deficiency (DCLRE1C-related) DCLRE1C
Severe combined immunodeficiency/ Omenn syndrome (RAG2-related) RAG2
Severe congenital neutropenia (VPS45-related) VPS45
Sialic acid storage disorders SLC17A5
Sjögren-Larsson syndrome ALDH3A2
SLC26A2-related disorders (including Diatrophic dysplasia, Atelosteogenesis type 2, Achondrogenesis type 1B/ Multiple metaphyseal dysplasia) SLC26A2
SLC35A3-related disorder 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
Tay-Sachs disease/ Hexosaminidase A deficiency HEXA
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 IB/ MYO7A-related disorders MYO7A
Usher syndrome type IC/ USH1C-related disorders USH1C
Usher syndrome type ID CDH23
Usher syndrome type IF/ PCDH15-related disorders PCDH15
Usher syndrome type IIA/ USH2A-related disorders USH2A
Usher syndrome type IIIA CLRN1
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency ACADVL
Walker-Warburg syndrome/ FKRP-related disorders FKRP
Walker-Warburg syndrome/ FKTN-related disorders FKTN
Wilson disease ATP7B
WNT10A-related disorders (including Odonto-onycho-dermal dysplasia and Schopf-Schulz-Passarge syndrome) WNT10A
X-linked adrenoleukodystrophy ABCD1
X-linked creatine transporter deficiency SLC6A8
X-linked juvenile retinoschisis RS1
X-linked myotubular myopathy MTM1
X-linked severe combined immunodeficiency (X-SCID) IL2RG
Xeroderma pigmentosum complemetation group A XPA
Xeroderma pigmentosum complemetation group C XPC
Zellweger spectrum disorder (PEX1-related) PEX1
Zellweger spectrum disorder (PEX10-related) PEX10
Zellweger spectrum disorder (PEX12-related) PEX12
Zellweger spectrum disorder (PEX2-related) PEX2
Zellweger spectrum disorder (PEX6-related) PEX6

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