What genetic conditions do we test for?

1. Serious genetic conditions

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

2. Results are actionable

The knowledge of being a carrier can open up reproductive options, including using IVF to avoid passing on the condition.

3. Relevant to everyone

With screening options ranging from 3 to over 780+ genes, our tests are relevant for people of all ethnicities & backgrounds.

What our tests cover

More than 80% of healthy individuals will be carriers of at least one condition. Which is why a broader panel gives a clearer picture of risk.

Core

conditions

Couples

conditions

Comprehensive 787

conditions

These charts show the distribution of genetic conditions across 7 health impact categories in our core, couples, and comprehensive carrier screening panels. The chart widths are proportional to the total number of conditions in each panel.

Each condition is categorised based on the primary body systems and functions it affects. The categories help understand the breadth of health impacts covered by genetic screening.

Health Impact Categories

Download Comprehensive gene list

AR = autosomal recessive · XL = X-linked

Conditions screened: Comprehensive carrier screening (787 conditions)

Every gene and the condition it is associated with in Eugene's comprehensive carrier screening panel, including the inheritance pattern.

Gene	Condition	Inheritance
AAAS	Achalasia-addisonianism-alacrimia syndrome	Autosomal recessive
ABCA12	Congenital ichthyosis ABCA12-related	Autosomal recessive
ABCA3	Surfactant metabolism dysfunction pulmonary 3	Autosomal recessive
ABCA4	Stargardt disease	Autosomal recessive
ABCB11	Progressive familial intrahepatic cholestasis	Autosomal recessive
ABCB4	Progressive familial intrahepatic cholestasis	Autosomal recessive
ABCC8	Familial hyperinsulinism	Autosomal recessive
ABCD1	Adrenoleukodystrophy X-linked	X-linked
ABCD4	Methylmalonic aciduria and homocystinuria cblJ type	Autosomal recessive
ACAD9	Acyl-CoA dehydrogenase-9 (ACAD9) deficiency	Autosomal recessive
ACADM	Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency	Autosomal recessive
ACADS	Short-chain acyl-coA dehydrogenase (SCAD) deficiency	Autosomal recessive
ACADSB	Short branched chain acyl-CoA dehydrogenase (SBCAD) deficiency	Autosomal recessive
ACADVL	Very long-chain acyl-CoA	Autosomal recessive
ACAT1	3-ketothiolase deficiency	Autosomal recessive
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	Autosomal recessive
ACSF3	Combined malonic and methylmalonic aciduria	Autosomal recessive
ADA	Adenosine deaminase deficiency	Autosomal recessive
ADAMTS2	Ehlers-Danlos syndrome dermatosparaxis type	Autosomal recessive
ADGRG1	Bilateral frontoparietal polymicrogyria	Autosomal recessive
ADGRV1	Usher syndrome type IIC	Autosomal recessive
ADK	Hypermethioninemia due to adenosine kinase deficiency	Autosomal recessive
AFF2	Fragile XE syndrome	X-linked
AGA	Aspartylglucosaminuria	Autosomal recessive
AGL	Glycogen storage disease type III	Autosomal recessive
AGPAT2	Congenital generalized lipodystrophy type 1	Autosomal recessive
AGPS	Rhizomelic chondrodysplasia punctata type 3	Autosomal recessive
AGXT	Primary hyperoxaluria type 1	Autosomal recessive
AHCY	due to deficiency of S-adenosylhomocysteine hydrolase	Autosomal recessive
AHI1	Joubert syndrome AHI1-related	Autosomal recessive
AIMP1	Hypomyelinating leukodystrophy 3	Autosomal recessive
AIPL1	Childhood-onset severe retinal dystrophy AIPL1-related	Autosomal recessive
AIRE	Autoimmune polyendocrinopathy syndrome type I	Autosomal recessive
AK2	Reticular dysgenesis	Autosomal recessive
AKR1D1	Congenital Bile Acid Synthesis Defect 2	Autosomal recessive
ALDH3A2	Sjogren-Larsson syndrome	Autosomal recessive
ALDH4A1	Hyperprolinemia type II	Autosomal recessive
ALDH7A1	Pyridoxine-dependent epilepsy	Autosomal recessive
ALDOB	Hereditary fructose intolerance	Autosomal recessive
ALG1	Congenital disorder of glycosylation type Ik	Autosomal recessive
ALG12	Congenital disorder of glycosylation type Ig	Autosomal recessive
ALG3	Congenital disorder of glycosylation type Id	Autosomal recessive
ALG6	Congenital disorder of glycosylation type Ic	Autosomal recessive
ALMS1	Alstrom syndrome	Autosomal recessive
ALOX12B	Autosomal recessive congenital ichthyosis 2	Autosomal recessive
ALOXE3	Congenital ichthyosiform erythroderma	Autosomal recessive
ALPL	Hypophosphatasia	Autosomal recessive
AMH	Persistent mullerian duct syndrome type I	Autosomal recessive
AMHR2	Persistent mullerian duct syndrome type II	Autosomal recessive
AMN	Megaloblastic anemia 1	Autosomal recessive
AMPD2	Pontocerebellar hypoplasia type 9	Autosomal recessive
AMT	Glycine encephalopathy	Autosomal recessive
ANO10	Spinocerebellar ataxia 10	Autosomal recessive
ANO5	Limb girdle muscular dystrophy type 2L	Autosomal recessive
ANTXR2	Hyaline fibromatosis syndrome	Autosomal recessive
AP1S1	MEDNIK syndrome	Autosomal recessive
AP1S2	X-linked Intellectual disability AP1S2-related	X-linked
AP3B1	Hermansky-Pudlak syndrome 2	Autosomal recessive
AP3D1	Hermansky-Pudlak syndrome 10	Autosomal recessive
APOPT1	Mitochondrial complex IV deficiency	Autosomal recessive
AQP2	Nephrogenic diabetes insipidus	Autosomal recessive
AR	Androgen insensitivity syndrome	X-linked
ARG1	Arginase deficiency	Autosomal recessive
ARL13B	Joubert syndrome ARL13B-related	Autosomal recessive
ARL6	ARL6-related disorders	Autosomal recessive
ARSA	Metachromatic leukodystrophy	Autosomal recessive
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome)	Autosomal recessive
ARSE	Chondrodysplasia punctata type 1 X-linked	X-linked
ARX	X-linked intellectual disability ARX-related	X-linked
ASL	Argininosuccinate lyase deficiency	Autosomal recessive
ASNS	Asparagine synthetase deficiency	Autosomal recessive
ASPA	Canavan disease	Autosomal recessive
ASS1	Citrullinemia	Autosomal recessive
ATM	Ataxia-telangiectasia	Autosomal recessive
ATP13A2	Kufor-Rakeb syndrome	Autosomal recessive
ATP6V0A2	Cutis laxa type IIA	Autosomal recessive
ATP6V0A4	Renal tubular acidosis	Autosomal recessive
ATP6V1B1	Renal tubular acidosis with deafness	Autosomal recessive
ATP6V1E1	Cutis laxa type IIC	Autosomal recessive
ATP7A	Menkes disease	X-linked
ATP7B	Wilson disease	Autosomal recessive
ATP8B1	Progressive familial intrahepatic cholestasis	Autosomal recessive
ATRX	Alpha thalassemia X-linked intellectual disability syndrome	X-linked
AVPR2	Nephrogenic diabetes insipidus	X-linked
B9D1	Joubert syndrome 27	Autosomal recessive
B9D2	Meckel syndrome 10	Autosomal recessive
BBS1	Bardet-Biedl syndrome type 1	Autosomal recessive
BBS10	Bardet-Biedl syndrome type 10	Autosomal recessive
BBS12	Bardet-Biedl syndrome type 12	Autosomal recessive
BBS2	BBS2-related ciliopathies	Autosomal recessive
BBS4	Bardet-Biedl syndrome 4	Autosomal recessive
BBS5	Bardet-Biedl syndrome 5	Autosomal recessive
BBS7	Bardet-Biedl syndrome 7	Autosomal recessive
BBS9	Bardet-Biedl syndrome 9	Autosomal recessive
BCHE	Butyrylcholinesterase deficiency	Autosomal recessive
BCKDHA	Maple syrup urine disease type Ia	Autosomal recessive
BCKDHB	Maple syrup urine disease type Ib	Autosomal recessive
BCS1L	Mitochondrial complex III deficiency	Autosomal recessive
BLM	Bloom syndrome	Autosomal recessive
BLOC1S3	Hermansky-Pudlak syndrome 8	Autosomal recessive
BLOC1S6	Hermansky-Pudlak syndrome 9	Autosomal recessive
BMP1	Osteogenesis imperfecta type XIII	Autosomal recessive
BMPER	Diaphanospondylodysostosis	Autosomal recessive
BRIP1	Fanconi anemia group J	Autosomal recessive
BRWD3	X-linked intellectual disability BRWD3-related	X-linked
BSND	Bartter syndrome	Autosomal recessive
BTD	Biotinidase deficiency	Autosomal recessive
BTK	X-linked agammaglobulinemia	X-linked
C19orf12	Mitochondrial membrane protein-associated neurodegeneration	Autosomal recessive
C8orf37	Bardet-Biedl Syndrome 21	Autosomal recessive
CAD	Early Infantile Epileptic Encephalopathy 50	Autosomal recessive
CANT1	Desbuquois dysplasia 1	Autosomal recessive
CAPN3	Limb-girdle muscular dystrophy type 2A	Autosomal recessive
CASP14	Congenital Ichthyosis 12	Autosomal recessive
CASQ2	Catecholaminergic polymorphic ventricular tachycardia	Autosomal recessive
CASR	Neonatal hyperparathyroidism	Autosomal recessive
CAVIN1	Congenital Generalized Lipodystrophy 4	Autosomal recessive
CBS	Homocystinuria due to cystathionine	Autosomal recessive
CC2D1A	Autosomal recessive intellectual developmental disorder 3	Autosomal recessive
CC2D2A	Joubert syndrome 9	Autosomal recessive
CCDC103	Primary ciliary dyskinesia type 17	Autosomal recessive
CCDC151	Primary ciliary dyskinesia type 30	Autosomal recessive
CCDC39	Primary ciliary dyskinesia type 14	Autosomal recessive
CCDC8	3-M Syndrome	Autosomal recessive
CCDC88C	Congenital hydrocephalus 1	Autosomal recessive
CD247	Severe Combined Immunodeficiency	Autosomal recessive
CD3D	Severe Combined Immunodeficiency	Autosomal recessive
CD3E	Severe Combined Immunodeficiency	Autosomal recessive
CD3G	Severe Combined Immunodeficiency	Autosomal recessive
CD40LG	Hyper IgM syndrome X-linked	X-linked
CD59	CD59 deficiency	Autosomal recessive
CD8A	Familial CD8 Deficiency	Autosomal recessive
CDAN1	Dyserythropoietic congenital anemia type Ia	Autosomal recessive
CDCA7	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	Autosomal recessive
CDH23	Usher syndrome type 1D	Autosomal recessive
CEP104	Joubert syndrome 25	Autosomal recessive
CEP152	CEP152-related disorders	Autosomal recessive
CEP290	CEP290-related Ciliopathies	Autosomal recessive
CERKL	Retinitis pigmentosa 26	Autosomal recessive
CERS3	Congenital ichthyosis 9	Autosomal recessive
CFTR	Cystic Fibrosis	Autosomal recessive
CHAT	Congenital myasthenic syndrome 6	Autosomal recessive
CHM	Choroideremia	X-linked
CHMP1A	Pontocerebellar hypoplasia type 8	Autosomal recessive
CHRNE	Congenital myasthenic syndrome	Autosomal recessive
CHRNG	Multiple pterygium syndrome	Autosomal recessive
CHST6	Macular corneal dystrophy CHST6-related	Autosomal recessive
CIB2	Nonsyndromic hearing loss 48	Autosomal recessive
CIITA	Bare lymphocyte syndrome type II	Autosomal recessive
CLCF1	Crisponi cold-induced sweating syndrome 2	Autosomal recessive
CLCN1	Autosomal recessive congenital myotonia	Autosomal recessive
CLCN5	Dent disease	X-linked
CLCNKB	Bartter syndrome	Autosomal recessive
CLN3	Neuronal ceroid lipofuscinosis	Autosomal recessive
CLN5	Neuronal ceroid lipofuscinosis 5	Autosomal recessive
CLN6	Neuronal ceroid lipofuscinosis CLN6-related	Autosomal recessive
CLN8	Neuronal ceroid lipofuscinosis CLN8-related	Autosomal recessive
CLP1	Pontocerebellar hypoplasia type 10	Autosomal recessive
CLRN1	Usher syndrome type 3A	Autosomal recessive
CNGA1	Retinitis Pigmentosa CNGA1-related	Autosomal recessive
CNGA3	CNGA3-related retinopathy	Autosomal recessive
CNGB1	Retinitis Pigmentosa CNGB1-related	Autosomal recessive
CNGB3	Achromatopsia	Autosomal recessive
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome	Autosomal recessive
COASY	Pontocerebellar hypoplasia type 12	Autosomal recessive
COL11A2	COL11A2-related disorders	Autosomal recessive
COL17A1	Junctional epidermolysis bullosa	Autosomal recessive
COL27A1	Steel syndrome	Autosomal recessive
COL4A3	Alport syndrome COL4A3-related	Autosomal recessive
COL4A4	Alport syndrome COL4A4-related	Autosomal recessive
COL4A5	Alport syndrome COL4A5-related	X-linked
COL7A1	Dystrophic epidermolysis bullosa	Autosomal recessive
COLQ	Congenital myasthenic syndrome 5	Autosomal recessive
COQ4	Primary Coenzyme Q10 deficiency 7	Autosomal recessive
CORO1A	Immunodeficiency 8	Autosomal recessive
COX10	Mitochondrial complex IV deficiency	Autosomal recessive
COX15	Mitochondrial complex IV deficiency	Autosomal recessive
COX20	Mitochondrial complex IV deficiency	Autosomal recessive
COX6B1	Mitochondrial complex IV deficiency	Autosomal recessive
CP	Aceruloplasminemia	Autosomal recessive
CPLANE1	Joubert syndrome 17	Autosomal recessive
CPS1	Carbamoylphosphate synthetase I deficiency	Autosomal recessive
CPT1A	Carnitine palmitoyltransferase IA deficiency	Autosomal recessive
CPT2	Carnitine palmitoyltransferase II deficiency	Autosomal recessive
CRADD	Intellectual developmental disorder with variant lissencephaly	Autosomal recessive
CRB1	CRB1-related retinopathy	Autosomal recessive
CRLF1	Crisponi cold-induced sweating syndrome 1	Autosomal recessive
CRTAP	Osteogenesis imperfecta type VII	Autosomal recessive
CRYL1	GJB6-CRYL1 related nonsyndromic hearing loss	Autosomal recessive
CTC1	Cerebroretinal microangiopathy with calcifications and cysts 1	Autosomal recessive
CTNS	Cystinosis	Autosomal recessive
CTSA	Galactosialidosis	Autosomal recessive
CTSC	Papillon-Lefevre syndrome	Autosomal recessive
CTSD	Neuronal ceroid lipofuscinosis CTSD-related	Autosomal recessive
CTSF	Neuronal ceroid lipofuscinosis 13	Autosomal recessive
CTSK	Pycnodysostosis	Autosomal recessive
CUL4B	X-linked intellectual disability CUL4B-related	X-linked
CUL7	Three M syndrome 1	Autosomal recessive
CWC27	Retinitis pigmentosa with or without skeletal anomalies	Autosomal recessive
CYBA	Chronic granulomatous disease	Autosomal recessive
CYBB	Chronic granulomatous disease X-linked	X-linked
CYP11A1	Congenital adrenal insufficiency	Autosomal recessive
CYP11B1	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	Autosomal recessive
CYP11B2	Corticosterone methyloxidase deficiency	Autosomal recessive
CYP17A1	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Autosomal recessive
CYP19A1	Aromatase deficiency	Autosomal recessive
CYP1B1	Primary congenital glaucoma	Autosomal recessive
CYP21A2	Congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Autosomal recessive
CYP27A1	Cerebrotendinous xanthomatosis	Autosomal recessive
CYP27B1	Vitamin D–dependent rickets type 1	Autosomal recessive
CYP4F22	Congenital ichthyosis 5	Autosomal recessive
CYP7B1	Congenital bile acid synthesis defect 3	Autosomal recessive
DBT	Maple syrup urine disease type II	Autosomal recessive
DCAF17	Woodhouse-Sakati syndrome	Autosomal recessive
DCLRE1C	Severe combined immunodeficiency with sensitivity to ionizing radiation	Autosomal recessive
DCX	Lissencephaly X-linked	X-linked
DDB2	Xeroderma pigmentosum group E	Autosomal recessive
DDC	Aromatic l-amino acid decarboxylase deficiency	Autosomal recessive
DDR2	Spondylometaepiphyseal dysplasia	Autosomal recessive
DDX11	Warsaw breakage syndrome	Autosomal recessive
DGUOK	Mitochondrial DNA depletion syndrome 3	Autosomal recessive
DHCR24	Desmosterolosis	Autosomal recessive
DHCR7	Smith-Lemli-Opitz syndrome	Autosomal recessive
DHDDS	Retinitis pigmentosa 59	Autosomal recessive
DKC1	X-linked dyskeratosis congenita	X-linked
DLAT	Pyruvate dehydrogenase E2	Autosomal recessive
DLD	Dihydrolipoamide dehydrogenase deficiency	Autosomal recessive
DLG3	X-linked intellectual disability DLG3-related	X-linked
DLL3	Spondylocostal dysostosis 1	Autosomal recessive
DMD	Dystrophinopathies	X-linked
DNAH5	Primary ciliary dyskinesia DNAH5-related	Autosomal recessive
DNAI1	Primary ciliary dyskinesia DNAI1-related	Autosomal recessive
DNAI2	Primary ciliary dyskinesia DNAI2-related	Autosomal recessive
DNAL1	Primary ciliary dyskinesia DNAL1-related	Autosomal recessive
DNMT3B	ICF Syndrome	Autosomal recessive
DOCK8	Hyper-IgE syndrome due to DOCK8 defiency	Autosomal recessive
DOK7	Congenital myasthenic syndrome DOK7-related	Autosomal recessive
DOLK	Congenital disorder of glycosylation type Im	Autosomal recessive
DPYD	Dihydropyrimidine dehydrogenase deficiency	Autosomal recessive
DTNBP1	Hermansky-Pudlak syndrome 7	Autosomal recessive
DUOX2	Congenital hypothyroidism DUOX2-related	Autosomal recessive
DUOXA2	Congenital hypothyroidism DUOXA2-related	Autosomal recessive
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly	Autosomal recessive
DYSF	Limb-girdle muscular dystrophy type 2B	Autosomal recessive
EDA	Hypohidrotic ectodermal dysplasia	X-linked
EFEMP2	Cutis laxa type 1B	Autosomal recessive
EIF2AK3	Wolcott-Rallison Syndrome	Autosomal recessive
EIF2B1	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B2	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B3	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B4	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B5	Leukoencephalopathy with vanishing white matter	Autosomal recessive
ELP1	Familial Dysautonomia	Autosomal recessive
EMD	Emery-Dreifuss muscular dystrophy	X-linked
EPB42	Spherocytosis type 5	Autosomal recessive
ERBB3	Familial visceral neuropathy type 1	Autosomal recessive
ERCC2	ERCC2-related disorders	Autosomal recessive
ERCC3	ERCC3-related photosensitivity	Autosomal recessive
ERCC4	ERCC4-related disorders	Autosomal recessive
ERCC5	Xeroderma Pigmentosa group G	Autosomal recessive
ERCC6	ERCC6-related disorders	Autosomal recessive
ERCC8	Cockayne syndrome type A	Autosomal recessive
ESCO2	Roberts syndrome	Autosomal recessive
ETFA	Glutaric aciduria IIA	Autosomal recessive
ETFB	Glutaric aciduria IIB	Autosomal recessive
ETFDH	Glutaric aciduria IIC	Autosomal recessive
ETHE1	Ethylmalonic encephalopathy	Autosomal recessive
EVC	EVC-related bone growth disorders	Autosomal recessive
EVC2	EVC2-related bone growth disorders	Autosomal recessive
EXOSC3	Pontocerebellar hypoplasia type 1B	Autosomal recessive
EYS	Retinitis pigmentosa 25	Autosomal recessive
F11	Factor XI deficiency	Autosomal recessive
F2	Prothrombin-related conditions	Autosomal recessive
F5	Factor V deficiency	Autosomal recessive
F7	Factor VII deficiency	Autosomal recessive
F8	Hemophilia A	X-linked
F9	Hemophilia B	X-linked
FA2H	Spastic paraplegia type 35	Autosomal recessive
FAH	Tyrosinemia type 1	Autosomal recessive
FAM126A	Hypomyelinating leukodystropy type 5	Autosomal recessive
FAM161A	Retinitis pigmentosa 28	Autosomal recessive
FANCA	Fanconi anemia group A	Autosomal recessive
FANCB	Fanconi anemia group B	X-linked
FANCC	Fanconi anemia group C	Autosomal recessive
FANCD2	Fanconi anemia group D2	Autosomal recessive
FANCE	Fanconi anemia group E	Autosomal recessive
FANCF	Fanconi anemia group F	Autosomal recessive
FANCG	Fanconi anemia group G	Autosomal recessive
FANCI	Fanconi anemia group I	Autosomal recessive
FANCL	Fanconi anemia group L	Autosomal recessive
FBP1	Fructose-1 6-bisphosphatase	Autosomal recessive
FBXL4	Mitochondrial DNA depletion syndrome 13	Autosomal recessive
FGD1	X-linked Aarskog-Scott syndrome	X-linked
FH	Fumarase deficiency	Autosomal recessive
FHL1	FHL1-related neuromuscular disorders	X-linked
FKBP10	Osteogenesis imperfecta type XI	Autosomal recessive
FKRP	FKRP Alpha-dystroglycanopathies	Autosomal recessive
FKTN	FKTN Alpha-dystroglycanopathies	Autosomal recessive
FMO3	Trimethylaminuria	Autosomal recessive
FMR1	Fragile X syndrome	X-linked
FOLR1	Cerebral folate deficiency	Autosomal recessive
FOXN1	T-cell immunodeficiency with thymic aplasia	Autosomal recessive
FOXP3	IPEX syndrome	X-linked
FOXRED1	Mitochondrial complex I deficiency	Autosomal recessive
FRAS1	Fraser syndrome	Autosomal recessive
FREM2	Fraser syndrome	Autosomal recessive
FTCD	Glutamate formiminotransferase deficiency	Autosomal recessive
FTSJ1	X-linked intellectual disability FTSJ1-related	X-linked
FUCA1	Fucosidosis	Autosomal recessive
FXN	Friedreich ataxia	Autosomal recessive
G6PC	Glycogen storage disease type 1a	Autosomal recessive
G6PC3	Severe congenital neutropenia 4	Autosomal recessive
G6PD	Glucose-6-phosphate dehydrogenase deficiency	X-linked
GAA	Pompe disease	Autosomal recessive
GALC	Krabbe disease	Autosomal recessive
GALE	Galactose epimerase deficiency	Autosomal recessive
GALK1	Galactokinase deficiency	Autosomal recessive
GALNS	Mucopolysaccharidosis IVA (Morquio syndrome A)	Autosomal recessive
GALNT3	Familial hyperphosphatemic tumoral calcinosis	Autosomal recessive
GALT	Galactosemia	Autosomal recessive
GAMT	Guanidinoacetate methyltransferase deficiency	Autosomal recessive
GATM	Cerebral creatine deficiency syndrome 3	Autosomal recessive
GBA	Gaucher disease	Autosomal recessive
GBE1	Glycogen storage disease IV	Autosomal recessive
GCDH	Glutaric aciduria type I	Autosomal recessive
GDAP1	Charcot-Marie-Tooth disease GDAP1-related	Autosomal recessive
GDF5	Du Pan Syndrome	Autosomal recessive
GFM1	Combined oxidative phosphorylation deficiency GFM1-related	Autosomal recessive
GFPT1	Congenital myasthenic syndrome 12	Autosomal recessive
GHR	Growth hormone insensitivity syndrome	Autosomal recessive
GHRHR	Isolated growth hormone deficiency	Autosomal recessive
GJB1	Charcot-Marie-Tooth disease X-linked type 1	X-linked
GJB2	Nonsyndromic hearing loss 1A	Autosomal recessive
GJB6	GJB6-CRYL1 related nonsyndromic hearing loss	Autosomal recessive
GLA	Fabry disease	X-linked
GLB1	GLB1-related gangliosidoses	Autosomal recessive
GLDC	Glycine encephalopathy GLDC-related	Autosomal recessive
GLE1	Lethal congenital contracture syndrome 1	Autosomal recessive
GNE	Inclusion body myopathy type 2 (Nonaka myopathy)	Autosomal recessive
GNPAT	Rhizomelic chondrodysplasia punctata type 2	Autosomal recessive
GNPTAB	Mucolipidosis II & III	Autosomal recessive
GNPTG	Mucolipidosis III gamma	Autosomal recessive
GNRHR	Hypogonadotropic hypogonadism GNRHR-related	Autosomal recessive
GNS	Mucopolysaccharidosis IIID (Sanfilippo syndrome D)	Autosomal recessive
GORAB	Geroderma osteodysplasticum	Autosomal recessive
GP1BA	Bernard-Soulier syndrome type A1	Autosomal recessive
GP9	Bernard-Soulier syndrome type C	Autosomal recessive
GPR143	X-linked Ocular albinism GPR143-related	X-linked
GRHPR	Primary hyperoxaluria type II	Autosomal recessive
GRIP1	Fraser syndrome	Autosomal recessive
GSS	Glutathione synthetase deficiency	Autosomal recessive
GUCY2D	Leber congenital amaurosis 1	Autosomal recessive
GUSB	Mucopolysaccharidosis type VII	Autosomal recessive
GYS2	Glycogen storage disease type 0 liver	Autosomal recessive
HADH	Familial hyperinsulinemic hypoglycemia 4	Autosomal recessive
HADHA	Trifunctional protein deficiency	Autosomal recessive
HADHB	Trifunctional protein deficiency	Autosomal recessive
HAMP	Hemochromatosis type 2B	Autosomal recessive
HAX1	Severe congenital neutropenia HAX1-related	Autosomal recessive
HBA1	Alpha thalassemia	Autosomal recessive
HBA2	Alpha thalassemia	Autosomal recessive
HBB	Sickle cell disease Hemoglobin C disease Beta thalassemia	Autosomal recessive
HCFC1	Methylmalonic acidemia with homocystinuria type cblX	X-linked
HELLS	Immunodeficiency Centromeric region instability Facial anomalies syndrome	Autosomal recessive
HEXA	Tay-Sachs disease	Autosomal recessive
HEXB	Sandhoff disease	Autosomal recessive
HFE	Hereditary Hemochromatosis	Autosomal recessive
HGD	Alkaptonuria	Autosomal recessive
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo syndrome C)	Autosomal recessive
HINT1	Neuromyotonia and axonal neuropathy	Autosomal recessive
HJV	Hemochromatosis type 2A	Autosomal recessive
HLCS	Holocarboxylase synthetase deficiency	Autosomal recessive
HMGCL	3-hydroxy-3-methylglutaryl-CoA lyase deficiency	Autosomal recessive
HMGCS2	3-hydroxy-3-methylglutaryl-CoA synthase 2 deficiency	Autosomal recessive
HOGA1	Primary hyperoxaluria type III	Autosomal recessive
HPD	Tyrosinemia type III	Autosomal recessive
HPS1	Hermansky-Pudlak syndrome 1	Autosomal recessive
HPS3	Hermansky-Pudlak syndrome 3	Autosomal recessive
HPS4	Hermansky-Pudlak syndrome 4	Autosomal recessive
HPS5	Hermansky-Pudlak syndrome 5	Autosomal recessive
HPS6	Hermansky-Pudlak syndrome 6	Autosomal recessive
HSD17B10	HSD10 mitochondrial disease	X-linked
HSD17B3	17-Beta-Hydroxysteroid Dehydrogenase Deficiency	Autosomal recessive
HSD17B4	D-bifunctional protein deficiency	Autosomal recessive
HSD3B2	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency	Autosomal recessive
HSD3B7	Congenital bile acid synthesis defect 1	Autosomal recessive
HYAL1	Mucopolysaccharidosis type IX	Autosomal recessive
HYLS1	Hydrolethalus syndrome	Autosomal recessive
IDH3B	Retinitis pigmentosa IDH3B-related	Autosomal recessive
IDS	Mucopolysaccharidosis type II (Hunter syndrome)	X-linked
IDUA	Mucopolysaccharidosis type I (Hurler syndrome)	Autosomal recessive
IFT140	IFT140-related disorders	Autosomal recessive
IGHMBP2	IGHMBP2-related neuropathies	Autosomal recessive
IGSF1	X-linked central hypothyroidism and testicular enlargement	X-linked
IKBKB	Immunodeficiency 15B	Autosomal recessive
IL1RAPL1	X-linked intellectual disability IL1RAPL1-related	X-linked
IL2RA	Immunodeficiency due to CD25 deficiency	Autosomal recessive
IL2RG	X-linked severe combined immunodeficiency	X-linked
IL7R	Severe Combined Immunodeficiency 104	Autosomal recessive
INPP5E	Joubert syndrome 1	Autosomal recessive
INVS	Nephronophthisis 2	Autosomal recessive
ITGA2B	Glanzmann thrombasthenia	Autosomal recessive
ITGA6	Junctional epidermolysis bullosa	Autosomal recessive
ITGB3	Glanzmann thrombasthenia	Autosomal recessive
ITGB4	Junctional epidermolysis bullosa	Autosomal recessive
ITPA	Developmental and epileptic encephalopathy 35	Autosomal recessive
IVD	Isovaleric Acidemia	Autosomal recessive
IYD	Thyroid dyshormonogenesis IYD-related	Autosomal recessive
JAK3	Severe combined immunodeficiency JAK3-related	Autosomal recessive
KCNJ1	Bartter syndrome	Autosomal recessive
KCNJ11	KCNJ11-related hyperinsulinism	Autosomal recessive
KCTD7	Progressive myoclonic epilepsy type 3	Autosomal recessive
KDM5C	X-linked intellectual disability KDM5C-related	X-linked
KIF14	Primary Autosomal Recessive Microcephaly 20	Autosomal recessive
L1CAM	L1 syndrome	X-linked
LAMA2	Muscular dystrophy LAMA2-related	Autosomal recessive
LAMA3	Junctional epidermolysis bullosa 2	Autosomal recessive
LAMB3	Junctional epidermolysis bullosa LAMB3-related	Autosomal recessive
LAMC2	Junctional epidermolysis bullosa LAMC2-related	Autosomal recessive
LARS	Infantile liver failure syndrome 1	Autosomal recessive
LCA5	Leber congenital amaurosis 5	Autosomal recessive
LCK	Immunodeficiency 22	Autosomal recessive
LDLR	Familial Hypercholesterolemia	Autosomal recessive
LDLRAP1	Familial Hypercholesterolemia	Autosomal recessive
LHCGR	Leydig cell hypoplasia	Autosomal recessive
LHX3	Combined pituitary hormone deficiency 3	Autosomal recessive
LIFR	Stuve-Wiedemann syndrome	Autosomal recessive
LIG4	LIG4 syndrome	Autosomal recessive
LIPA	Lysosomal acid lipase deficiency	Autosomal recessive
LIPN	Congenital Ichthyosis 8	Autosomal recessive
LMAN1	Combined factor V and VIII deficiency	Autosomal recessive
LMBRD1	Methylmalonic aciduria and homocystinuria cblF type	Autosomal recessive
LOXHD1	Nonsyndromic hearing loss 77	Autosomal recessive
LPAR6	Hypotrichosis 8	Autosomal recessive
LPL	Familial lipoprotein lipase deficiency	Autosomal recessive
LRAT	Leber congenital amaurosis 14	Autosomal recessive
LRP2	Donnai–Barrow syndrome	Autosomal recessive
LRPPRC	Leigh syndrome with Complex IV deficiency	Autosomal recessive
LTBP4	Cutis laxa with severe pulmonary gastrointestinal and urinary abnormalities	Autosomal recessive
LYST	Chediak-Higashi syndrome	Autosomal recessive
MAK	Retinitis Pigmentosa 62	Autosomal recessive
MALT1	Immunodeficiency 12	Autosomal recessive
MAN2B1	Alpha-Mannosidosis	Autosomal recessive
MANBA	Beta-Mannosidosis	Autosomal recessive
MAT1A	Methionine adenosyltransferase deficiency	Autosomal recessive
MCCC1	3-Methylcrotonyl-CoA carboxylase 1 deficiency (3-MCC deficiency)	Autosomal recessive
MCCC2	3-Methylcrotonyl-CoA carboxylase 2 deficiency (3-MCC deficiency)	Autosomal recessive
MCEE	Methylmalonyl-CoA epimerase deficiency	Autosomal recessive
MCOLN1	Mucolipidosis IV	Autosomal recessive
MCPH1	Primary microcephaly 1 recessive	Autosomal recessive
MED17	Postnatal Progressive Microcephaly with Seizures and Brain Atrophy	Autosomal recessive
MEFV	Familial Mediterranean fever	Autosomal recessive
MEGF8	Carpenter syndrome 2	Autosomal recessive
MESP2	Spondylocostal dysostosis	Autosomal recessive
MFSD8	Neuronal ceroid lipofuscinosis MFSD8-related	Autosomal recessive
MID1	Opitz GBBB syndrome type I	X-linked
MKKS	Bardet-Biedl syndrome 6	Autosomal recessive
MKS1	MKS1-related ciliopathies	Autosomal recessive
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	Autosomal recessive
MLYCD	Malonyl-CoA decarboxylase deficiency	Autosomal recessive
MMAA	Methylmalonic aciduria cblA type	Autosomal recessive
MMAB	Methylmalonic aciduria cblB type	Autosomal recessive
MMACHC	Methylmalonic aciduria and homocystinuria cblC type	Autosomal recessive
MMADHC	Methylmalonic aciduria and homocystinuria cblD type	Autosomal recessive
MPI	Congenital disorder of glycosylation	Autosomal recessive
MPL	Congenital amegakaryocytic thrombocytopenia	Autosomal recessive
MPV17	Hepatocerebral mitochondrial DNA depletion syndrome MPV17-related	Autosomal recessive
MRE11	Ataxia-Telangiectasia-Like Disorder 1	Autosomal recessive
MTHFD1	Combined immunodeficiency and megaloblastic anemia	Autosomal recessive
MTHFR	Homocystinuria MTHFR-related	Autosomal recessive
MTM1	Myotubular myopathy X-linked	X-linked
MTMR2	Charcot-Marie-Tooth disease type 4B1	Autosomal recessive
MTR	Methylcobalamin deficiency type cblG	Autosomal recessive
MTRR	Homocystinuria-megaloblastic anemia cobalamin E type	Autosomal recessive
MTTP	Abetalipoproteinemia	Autosomal recessive
MUT	methylmalonyl–CoA mutase deficiency	Autosomal recessive
MVK	Mevalonate kinase deficiency	Autosomal recessive
MYO15A	Nonsyndromic hearing loss MYO15A-related	Autosomal recessive
MYO7A	MYO7A-related disorders	Autosomal recessive
NAGA	Schindler disease types 1 and 3	Autosomal recessive
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo syndrome B)	Autosomal recessive
NAGS	N-acetylglutamate synthase deficiency	Autosomal recessive
NBAS	SOPH syndrome	Autosomal recessive
NBEAL2	Gray platelet syndrome	Autosomal recessive
NBN	Nijmegen breakage syndrome	Autosomal recessive
NCF2	Chronic granulomatous disease 2	Autosomal recessive
NCF4	Chronic granulomatous disease 4	Autosomal recessive
NDP	Norrie disease	X-linked
NDRG1	Charcot-Marie-Tooth disease type 4D	Autosomal recessive
NDUFA11	Mitochondrial complex I deficiency	Autosomal recessive
NDUFAF2	Mitochondrial complex I deficiency	Autosomal recessive
NDUFAF5	Mitochondrial complex I deficiency (Leigh syndrome)	Autosomal recessive
NDUFS4	Mitochondrial complex I deficiency	Autosomal recessive
NDUFS6	Mitochondrial complex I deficiency (Leigh syndrome)	Autosomal recessive
NDUFS7	Mitochondrial complex I deficiency	Autosomal recessive
NDUFV1	Mitochondrial complex I deficiency nuclear type 4	Autosomal recessive
NEB	Nemaline myopathy	Autosomal recessive
NEU1	Sialidosis type I and II	Autosomal recessive
NGLY1	Congenital disorder of deglycosylation	Autosomal recessive
NHEJ1	Severe combined immunodeficiency with microcephaly growth retardation and sensitivity to ionizing radiation	Autosomal recessive
NIPAL4	Autosomal Recessive Congenital Ichthyosis 6	Autosomal recessive
NONO	X-linked intellectual disability syndrome 34	X-linked
NPC1	Niemann-Pick disease type C1	Autosomal recessive
NPC2	Niemann-Pick disease type C2	Autosomal recessive
NPHP1	NPHP1-related ciliopathies	Autosomal recessive
NPHP3	NPHP3-related ciliopathies	Autosomal recessive
NPHS1	Congenital nephrotic syndrome type 1 1	Autosomal recessive
NPHS2	Congenital nephrotic syndrome type 2	Autosomal recessive
NR0B1	Congenital adrenal hypoplasia X-linked	X-linked
NR2E3	NR2E3-related retinal dystrophies	Autosomal recessive
NTRK1	Congenital insensitivity to pain with anhidrosis	Autosomal recessive
OAT	Gyrate atrophy of choroid and retina	Autosomal recessive
OBSL1	3M syndrome 2	Autosomal recessive
OCA2	Oculocutaneous albinism type II	Autosomal recessive
OCRL	OCRL-related disoders	X-linked
OPA3	Costeff syndrome	Autosomal recessive
OPHN1	X-linked intellectual disability- cerebellar hypoplasia syndrome	X-linked
OSTM1	Osteopetrosis 5	Autosomal recessive
OTC	Ornithine transcarbamylase deficiency	X-linked
OTOF	Nonsyndromic hearing loss OTOF-related	Autosomal recessive
P3H1	Osteogenesis imperfecta type VIII	Autosomal recessive
PAH	Phenylalanine Hydroxylase deficiency (Phenylketonuria)	Autosomal recessive
PAK3	X-linked intellectual disability PAK3- related	X-linked
PANK2	Pantothenate kinase-associated neurodegeneration	Autosomal recessive
PC	Pyruvate carboxylase deficiency	Autosomal recessive
PCBD1	Tetrahydrobiopterin deficiency PCBD1-related	Autosomal recessive
PCCA	Propionic acidemia PCCA-related	Autosomal recessive
PCCB	Propionic acidemia PCCB-related	Autosomal recessive
PCDH15	PCDH15-related sensory loss	Autosomal recessive
PCNT	Microcephalic osteodysplastic primordial dwarfism type II	Autosomal recessive
PDE6A	Retinitis pigmentosa PDE6A-related	Autosomal recessive
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency	X-linked
PDHB	Pyruvate dehydrogenase E1-beta deficiency	Autosomal recessive
PDHX	Pyruvate dehydrogenase E3-binding protein deficiency	Autosomal recessive
PDP1	Pyruvate dehydrogenase phosphatase deficiency	Autosomal recessive
PEPD	Prolidase deficiency	Autosomal recessive
PET100	Mitochondrial complex IV deficiency	Autosomal recessive
PEX1	Zellweger syndrome PEX1-related	Autosomal recessive
PEX10	Zellweger syndrome PEX10-related	Autosomal recessive
PEX11B	Zellweger spectrum disorder	Autosomal recessive
PEX12	Zellweger syndrome PEX12-related	Autosomal recessive
PEX13	Zellweger spectrum disorder	Autosomal recessive
PEX14	Zellweger spectrum disorder	Autosomal recessive
PEX16	Zellweger spectrum disorder	Autosomal recessive
PEX19	Zellweger spectrum disorder	Autosomal recessive
PEX2	Zellweger syndrome PEX2-related	Autosomal recessive
PEX26	Zellweger syndrome	Autosomal recessive
PEX3	Zellweger spectrum disorder	Autosomal recessive
PEX5	Zellweger spectrum disorder	Autosomal recessive
PEX6	Zellweger syndrome PEX6-related	Autosomal recessive
PEX7	Rhizomelic chondrodysplasia punctata type 1	Autosomal recessive
PFKM	Glycogen storage disease VII	Autosomal recessive
PGK1	Phosphoglycerate kinase 1 deficiency	X-linked
PGM3	Immunodeficiency 23	Autosomal recessive
PHF8	X-linked intellectual disability Siderius type	X-linked
PHGDH	Phosphoglycerate dehydrogenase deficiency	Autosomal recessive
PHKA1	Glycogen storage disease type IXd	X-linked
PHKA2	Glycogen storage disease type IXa	X-linked
PHKB	Glycogen storage disease type IXb	Autosomal recessive
PHKG2	Glycogen storage disease type IXc	Autosomal recessive
PHYH	Refsum disease	Autosomal recessive
PIGN	Multiple congenital anomalies hypotonia seizures syndrome 1	Autosomal recessive
PIP5K1C	Lethal congenital contractural syndrome 3	Autosomal recessive
PJVK	Nonsyndromic hearing loss 59	Autosomal recessive
PKHD1	Polycystic kidney disease PKHD1-related	Autosomal recessive
PLA2G6	Infantile neuroaxonal dystrophy	Autosomal recessive
PLEKHG5	PLEKHG5-related motor neuropathies	Autosomal recessive
PLOD1	Ehlers-Danlos syndrome with kyphoscoliosis PLOD1-related	Autosomal recessive
PLOD2	Bruck syndrome 2	Autosomal recessive
PLP1	PLP1-related disorders	X-linked
PMM2	Congenital disorder of glycosylation type 1a	Autosomal recessive
PNP	Purine nucleoside phosphorylase deficiency	Autosomal recessive
PNPLA1	Autosomal recessive congenital ichthyosis 10	Autosomal recessive
PNPO	Pyridoxamine 5’-phosphate oxidase deficiency	Autosomal recessive
POC1A	Short stature onychodysplasia facial dysmorphism and hypotrichosis syndrome	Autosomal recessive
POLG	POLG-related disorders	Autosomal recessive
POLH	Xeroderma pigmentosum	Autosomal recessive
POLR1C	POLR1C-related disorders	Autosomal recessive
POMGNT1	POMGNT1 Alpha-dystroglycanopathies	Autosomal recessive
POMT1	POMT1 Alpha-dystroglycanopathies	Autosomal recessive
POMT2	POMT2 Alpha-dystroglycanopathies	Autosomal recessive
POR	Antley-Bixler syndrome	Autosomal recessive
POU1F1	Combined pituitary hormone deficiency	Autosomal recessive
POU3F4	X-linked hearing loss POU3F4- related	X-linked
PPIB	Osteogenesis imperfecta type IX	Autosomal recessive
PPT1	Neuronal ceroid lipofuscinosis PPT1-related	Autosomal recessive
PQBP1	Renpenning syndrome	X-linked
PRCD	Retinitis pigmentosa 36	Autosomal recessive
PRDM5	Brittle cornea syndrome 2	Autosomal recessive
PRF1	Hemophagocytic lymphohistiocytosis familial 2	Autosomal recessive
PRICKLE1	Progressive myoclonic epilepsy type 1B	Autosomal recessive
PRKDC	PRKDC-related immunodeficiency	Autosomal recessive
PROP1	Combined pituitary hormone deficiency 2	Autosomal recessive
PRPS1	PRPS1-related disorders	X-linked
PSAP	Metachromatic leukodystrophy due to saposin-b deficiency	Autosomal recessive
PTPRC	PTPRC related-severe combined immunodeficiency	Autosomal recessive
PTS	Tetrahydrobiopterin deficiency	Autosomal recessive
PUS1	Mitochondrial myopathy and sideroblastic anemia 1	Autosomal recessive
PYCR1	Cutis laxa type IIB and type IIIB	Autosomal recessive
PYGL	Glycogen storage disease VI	Autosomal recessive
PYGM	Glycogen storage disease type V	Autosomal recessive
QDPR	Tetrahydrobiopterin deficiency QDPR-related	Autosomal recessive
RAB23	Carpenter syndrome	Autosomal recessive
RAG1	Omenn syndrome RAG1-related	Autosomal recessive
RAG2	Omenn syndrome RAG2-related	Autosomal recessive
RAPSN	RAPSN-associated acetylcholine receptor deficiency	Autosomal recessive
RARS2	Pontocerebellar hypoplasia type 6	Autosomal recessive
RAX	Microphthalmia isolated 3	Autosomal recessive
RD3	Leber congenital amaurosis 12	Autosomal recessive
RDH12	Leber congenital amaurosis type 13	Autosomal recessive
RDH5	Fundus albipunctatus	Autosomal recessive
RFX5	Bare lymphocyte syndrome type II	Autosomal recessive
RFXANK	MHC class II deficiency	Autosomal recessive
RFXAP	Bare lymphocyte syndrome type II	Autosomal recessive
RHAG	Rh Deficiency syndrome	Autosomal recessive
RLBP1	Retinal dystrophy RLBP1-related	Autosomal recessive
RMRP	Cartilage-Hair Hypoplasia Anauxetic Dysplasia Spectrum Disorder	Autosomal recessive
RNASEH2A	Aicardi-Goutieres syndrome 4	Autosomal recessive
RNASEH2B	Aicardi Goutieres syndrome 2	Autosomal recessive
RNASEH2C	Aicardi-Goutieres syndrome 3	Autosomal recessive
ROGDI	Kohlschutter-Tonz syndrome	Autosomal recessive
RP2	X-linked Retinitis pigmentosa RP2-related	X-linked
RPE65	RPE65-related retinopathy	Autosomal recessive
RPGR	X-linked Retinitis pigmentosa RPGR-related	X-linked
RPGRIP1	Leber congenital amaurosis and Cone-rod dystrophy	Autosomal recessive
RPGRIP1L	RPGRIP1L-related ciliopathies	Autosomal recessive
RS1	Juvenile retinoschisis X-linked	X-linked
RSPH9	Primary ciliary dyskinesia 12	Autosomal recessive
RTEL1	Dyskeratosis congenita type 5	Autosomal recessive
SACS	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	Autosomal recessive
SAG	Retinitis pigmentosa 47	Autosomal recessive
SAMD9	Normophosphatemic Familial Tumoral Calcinosis	Autosomal recessive
SAMHD1	Aicardi-Goutieres syndrome	Autosomal recessive
SARS2	Hyperuricemia pulmonary hypertension renal failure and alkalosis syndrome	Autosomal recessive
SBDS	Shwachman-Diamond syndrome	Autosomal recessive
SCO1	Mitochondrial complex IV deficiency	Autosomal recessive
SCO2	Mitochondrial complex IV deficiency	Autosomal recessive
SDCCAG8	Bardet-Biedl syndrome and Senior-Loken syndrome	Autosomal recessive
SDR9C7	Autosomal recessive congenital ichthyosis	Autosomal recessive
SEC23B	Congenital dyserythropoietic anemia type II	Autosomal recessive
SELENON	Rigid spine muscular dystrophy	Autosomal recessive
SEPSECS	Pontocerebellar hypoplasia type 2D	Autosomal recessive
SERPINA1	Alpha-1 antitrypsin deficiency	Autosomal recessive
SERPINF1	Osteogenesis imperfecta type VI	Autosomal recessive
SGCA	Limb-girdle muscular dystrophy type 2D	Autosomal recessive
SGCB	Limb-girdle muscular dystrophy type 2E	Autosomal recessive
SGCD	Limb-girdle muscular dystrophy type 2F	Autosomal recessive
SGCG	Limb-girdle muscular dystrophy type 2C	Autosomal recessive
SGSH	Mucopolysaccharidosis IIIA (Sanfilippo syndrome A)	Autosomal recessive
SH3TC2	Charcot-Marie-Tooth disease SH3TC2-related	Autosomal recessive
SKIV2L	Trichohepatoenteric syndrome 2	Autosomal recessive
SLC12A1	Bartter syndrome	Autosomal recessive
SLC12A3	Gitelman syndrome	Autosomal recessive
SLC12A6	Andermann syndrome	Autosomal recessive
SLC16A2	Allan-Herndon-Dudley syndrome	X-linked
SLC17A5	Sialic acid storage disorder	Autosomal recessive
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome	Autosomal recessive
SLC19A3	Biotin-responsive basal ganglia disease	Autosomal recessive
SLC1A4	Spastic tetraplegia thin corpus callosum and progressive microcephaly syndrome	Autosomal recessive
SLC22A5	Systemic primary carnitine deficiency	Autosomal recessive
SLC25A13	Citrin deficiency	Autosomal recessive
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome (Triple H syndrome)	Autosomal recessive
SLC25A20	Carnitine-acylcarnitine translocase deficiency	Autosomal recessive
SLC26A2	SLC26A2-related disorders	Autosomal recessive
SLC26A3	Congenital secretory chloride diarrhea	Autosomal recessive
SLC26A4	Pendred syndrome	Autosomal recessive
SLC27A4	Ichthyosis prematurity syndrome	Autosomal recessive
SLC2A10	Arterial tortuosity syndrome	Autosomal recessive
SLC2A2	Fanconi-Bickel syndrome	Autosomal recessive
SLC34A3	Hereditary hypophosphatemic rickets with hypercalciuria	Autosomal recessive
SLC35A3	Arthrogryposis intellectual disability and seizures	Autosomal recessive
SLC37A4	Glycogen storage disease type Ib	Autosomal recessive
SLC39A4	Acrodermatitis enteropathica	Autosomal recessive
SLC3A1	Cystinuria type I	Autosomal recessive
SLC45A2	Oculocutaneous albinism type IV	Autosomal recessive
SLC46A1	Hereditary folate malabsorption	Autosomal recessive
SLC4A1	Distal Renal Tubular Acidosis	Autosomal recessive
SLC4A11	Corneal endothelial dystrophy	Autosomal recessive
SLC5A5	Thyroid dyshormonogenesis SLC5A5-related	Autosomal recessive
SLC6A19	Hartnup disorder	Autosomal recessive
SLC6A8	Creatine deficiency syndrome	X-linked
SLC7A7	Lysinuric protein intolerance	Autosomal recessive
SLC7A9	Cystinuria non-type I	Autosomal recessive
SMARCAL1	Schimke immunoosseous dysplasia	Autosomal recessive
SMN1	Spinal muscular atrophy	Autosomal recessive
SMPD1	Niemann-Pick disease type A/B	Autosomal recessive
SNAP29	Cerebral dysgenesis neuropathy ichthyosis and palmoplantar keratoderma syndrome	Autosomal recessive
SNX10	Osteopetrosis 8	Autosomal recessive
SP110	Hepatic venoocclusive disease with immunodeficiency	Autosomal recessive
SPATA7	Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP)	Autosomal recessive
SPG11	SPG11-related Neuromuscular Disorders	Autosomal recessive
SPG21	Mast syndrome	Autosomal recessive
SPG7	Spastic paraplegia type 7	Autosomal recessive
SPINK5	Netherton syndrome	Autosomal recessive
SPR	Sepiapterin Reductase Deficiency	Autosomal recessive
SRD5A2	5-alpha reductase deficiency	Autosomal recessive
ST3GAL5	Salt and pepper developmental regression syndrome	Autosomal recessive
STAR	Lipoid congenital adrenal hyperplasia	Autosomal recessive
STK4	Combined immunodeficiency due to STK4 deficiency	Autosomal recessive
STX11	Familial hemophagocytic lymphohistiocytosis	Autosomal recessive
STXBP2	Familial hemophagocytic lymphohistiocytosis	Autosomal recessive
SUCLA2	Mitochondrial DNA depletion syndrome 5	Autosomal recessive
SUMF1	Multiple sulfatase deficiency	Autosomal recessive
SUOX	Sulfite oxidase deficiency	Autosomal recessive
SURF1	Leigh syndrome SURF1-related	Autosomal recessive
SYN1	X-linked epilepsy with variable learning disabilities	X-linked
SYNE4	Autosomal recessive deafness 76	Autosomal recessive
TAT	Tyrosinemia type II	Autosomal recessive
TAZ	Barth syndrome	X-linked
TBCE	Hypoparathyroidism-retardation-dysmorphism syndrome	Autosomal recessive
TBX19	Adrenocorticotropic hormone deficiency	Autosomal recessive
TCIRG1	Osteopetrosis 1	Autosomal recessive
TCTN1	Joubert syndrome 13	Autosomal recessive
TCTN2	TCTN2-related ciliopathies	Autosomal recessive
TCTN3	Joubert syndrome 18	Autosomal recessive
TECPR2	Spastic paraplegia 49	Autosomal recessive
TERT	Dyskeratosis congenita type 4	Autosomal recessive
TF	Atransferrinemia	Autosomal recessive
TFR2	Hemochromatosis type 3	Autosomal recessive
TG	Thyroid dyshormonogenesis TG-related	Autosomal recessive
TGM1	Congenital ichthyosis	Autosomal recessive
TH	Segawa syndrome	Autosomal recessive
THOC2	X-linked Intellectual disability THOC2-related	X-linked
TK2	Mitochondrial DNA depletion syndrome 2	Autosomal recessive
TMC1	Nonsyndromic hearing loss 7	Autosomal recessive
TMEM138	Joubert syndrome 16	Autosomal recessive
TMEM216	TMEM216-related ciliopathies	Autosomal recessive
TMEM231	Joubert syndrome 20	Autosomal recessive
TMEM237	Joubert syndrome 14	Autosomal recessive
TMEM38B	Osteogenesis imperfecta type XIV	Autosomal recessive
TMEM67	COACH syndrome	Autosomal recessive
TMEM70	Mitochondrial complex V deficiency type 2	Autosomal recessive
TMPRSS3	Nonsyndromic hearing loss TMPRSS3-related	Autosomal recessive
TNFSF11	Osteopetrosis 2	Autosomal recessive
TNXB	Ehlers–Danlos-like syndrome due to tenascin-X deficiency	Autosomal recessive
TPO	Thyroid dyshormonogenesis TPO-related	Autosomal recessive
TPP1	Neuronal ceroid lipofuscinosis TPP1-related	Autosomal recessive
TRAPPC11	Limb-girdle muscular dystrophy 18	Autosomal recessive
TRDN	Catecholaminergic polymorphic ventricular tachycardia	Autosomal recessive
TREX1	Aicardi-Goutieres syndrome 1	Autosomal recessive
TRHR	Generalized thyrotropin-releasing hormone resistance	Autosomal recessive
TRIM32	TRIM32-related disorders	Autosomal recessive
TRIM37	Mulibrey nanism	Autosomal recessive
TRMU	Liver failure acute infantile	Autosomal recessive
TRPM6	Hypomagnesemia 1	Autosomal recessive
TSEN2	Pontocerebellar hypoplasia type 2B	Autosomal recessive
TSEN34	Pontocerebellar hypoplasia type 2C	Autosomal recessive
TSEN54	Pontocerebellar hypoplasia type 2A	Autosomal recessive
TSFM	Combined oxidative phosphorylation deficiency TSFM-related	Autosomal recessive
TSHB	Congenital hypothyroidism TSHB-related	Autosomal recessive
TSHR	Congenital hypothyroidism TSHR-related	Autosomal recessive
TTC37	Trichohepatoenteric syndrome	Autosomal recessive
TTC7A	Gastrointestinal defects and immunodeficiency syndrome	Autosomal recessive
TTC8	Bardet-Biedl syndrome 8	Autosomal recessive
TTPA	Ataxia with isolated vitamin E deficiency	Autosomal recessive
TULP1	TULP1-related retinal disorders	Autosomal recessive
TYMP	Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease	Autosomal recessive
TYR	Oculocutaneous albinism types 1A and 1B	Autosomal recessive
TYRP1	Oculocutaneous albinism type III	Autosomal recessive
UGT1A1	Crigler-Najjar syndrome	Autosomal recessive
UNC13D	Familial hemophagocytic lymphohistiocytosis type 3	Autosomal recessive
UPF3B	Lujan-Fryns syndrome UPF3B- related	X-linked
USH1C	USH1C-related disorders	Autosomal recessive
USH1G	Usher syndrome type IG	Autosomal recessive
USH2A	Usher syndrome type 2A	Autosomal recessive
VDR	Vitamin D-dependent rickets type 2A	Autosomal recessive
VLDLR	Cerebellar ataxia mental retardation and dysequilibrium syndrome 1	Autosomal recessive
VPS13A	Choreoacanthocytosis	Autosomal recessive
VPS13B	Cohen syndrome	Autosomal recessive
VPS45	Severe congenital neutropenia	Autosomal recessive
VPS53	Pontocerebellar hypoplasia type 2E	Autosomal recessive
VRK1	Pontocerebellar hypoplasia type 1A	Autosomal recessive
VSX2	Microphthalmia with or without coloboma	Autosomal recessive
WAS	WAS-related hematopoietic disorder	X-linked
WHRN	Usher syndrome type 2D	Autosomal recessive
WISP3	Progressive pseudorheumatoid dysplasia	Autosomal recessive
WNT1	Osteogenesis imperfecta type 15	Autosomal recessive
WNT10A	WNT10A-related ectodermal dysplasias	Autosomal recessive
WRN	Werner syndrome	Autosomal recessive
XPA	Xeroderma pigmentosum group A	Autosomal recessive
XPC	Xeroderma pigmentosum group C	Autosomal recessive
ZAP70	ZAP70-related Immunodeficiency	Autosomal recessive
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome 2	Autosomal recessive
ZDHHC9	X-linked intellectual disability ZDHHC9-related	X-linked
ZFYVE26	Spastic paraplegia 15	Autosomal recessive
ZNF469	Brittle cornea syndrome 1	Autosomal recessive
ZNF711	X-linked intellectual disability ZNF711-related	X-linked

Screening breadth across tests

All three options (Core, Couples, Comprehensive) screen for serious, actionable genetic conditions recommended by major professional bodies.
The Core test covers CFTR, SMN1 and FMR1 and will detect 20% of at-risk couples, while the Comprehensive panel which includes more than 780 genes can detect ~90% of at-risk couples.
The Couples test expands to hundreds (620+ genes) is only available for heterosexual couples and can detect ~80% of at-risk couples. It is important to note that common conditions such as Alpha Thalassaemia, Autosomal forms of non-syndromic hearing loss and Gaucher disease are not currently included in this panel.

Who the test is for

Core: Designed for an individual (female at birth) under Medicare‐eligible circumstances.
Couples: Targeted at heterosexual couples (both partners) under Medicare eligibility.
Comprehensive: Suitable for individuals, heterosexual couples, same-sex couples, or donors — offering maximum flexibility.

Report type & reproductive risk output

All tests provide a reproductive risk assessment (i.e., risk of having an affected child) where relevant.
Individual carrier results are included for all tests, but the Core and Couples test restricts to female only (in low risk scenarios); Comprehensive screening provides individual reporting across all genes.
Please note, males are not screened for variations in X-linked genes. If a family history is reported please reach out to our genetic counselling team to discuss specific details counsellors@eugenelabs.com

Medicare rebate / out-of-pocket

Core and Couples tests have Medicare rebate eligibility, reducing or eliminating out-of-pocket costs for eligible patients.
The Comprehensive test is fully self-funded (no rebate), reflecting the broader gene panel.
Please note that MBS item 73451 can only be claimed once in a person's life. Patients can check eligibility through Medicare claims history.
If patients are not eligible for funded testing they will be contacted by the Eugene support team.

Turnaround time and logistics

All tests include genetic counselling support and standard logistics for sample collection and processing.
The Core and Comprehensive tests aim for a quicker turnaround (around 4 weeks) while the Couples panel lists a somewhat longer timeframe (6-8 weeks), reflecting the additional complexity.

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. At Eugene only females are screened for x-linked conditions.

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Explore genetic testing options tailored to your needs

Feature	Core Carrier Screening $0* *Medicare eligibility required Suitable for female sex at birth Buy	Couples Carrier Screening $949* Medicare eligibility required $949 is out of pocket cost Buy	Comprehensive Carrier Screening from$949 $949 for individuals $1499 for couples Buy	Comprehensive+ Preventative bundle from$1,899 $1,899 for individuals $3,299 for couples Buy
What's included
Total genes screened	3 genes screened	620+ genes screened	780+ genes screened	980+ genes screened
What genes are screened?	Reproductive	Reproductive	Reproductive	Reproductive Cancer risk Heart health Personal health
Who is this for?	Individual	Heterosexual couples	Individual Heterosexual couples Same-sex couples Donors	Individual Heterosexual couples Same-sex couples Donors
What's in my report?	Personal carrier status	Reproductive risk	Personal carrier status Reproductive risk	Personal carrier status Reproductive risk Personal health risks
Reproductive risk
Eugene Sequence			Unlock more later	Unlock more later
Medicare rebate	$0 out of pocket	$949 out of pocket
Genetic counselling support
Return shipping	Shipping fees apply	Free	Free	Free
Results turnaround time	Within 4 weeks	Within 6-8 weeks	Within 4 weeks	Within 4-6 weeks

What genetic conditions do we test for?

1. Serious genetic conditions

2. Results are actionable

3. Relevant to everyone

What our tests cover

Core

Couples

Comprehensive 787

About these charts

Health Impact Categories

Carrier screening at a glance

Screening breadth across tests

Who the test is for

Report type & reproductive risk output

Medicare rebate / out-of-pocket

Turnaround time and logistics

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

1. Recessive conditions

2. X-linked conditions

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Feature	Cancer risk $949 Buy	Heart health $949 Buy	Preventative health $1199 Buy	Comprehensive+ Preventative bundle from$1,899 Buy
What's included
Total genes screened	65+ genes screened	85+ genes screened	180+ genes screened	980+ genes screened
What genes are screened?	Cancer risk	Heart health	Cancer risk Heart health Personal health	Reproductive Cancer risk Heart health Personal health
Genetic counselling support
Return shipping	Free	Free	Free	Free
Results turnaround time	Within 4-6 weeks	Within 4-6 weeks	Within 4-6 weeks	Within 4-6 weeks

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What genetic conditions do we test for?

1. Serious genetic conditions

2. Results are actionable

3. Relevant to everyone

What our tests cover

Core

Couples

Comprehensive 787

About these charts

Health Impact Categories

Carrier screening at a glance

Screening breadth across tests

Who the test is for

Report type & reproductive risk output

Medicare rebate / out-of-pocket

Turnaround time and logistics

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

1. Recessive conditions

2. X-linked conditions

Compare our reproductive carrier tests

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Preventative Health

Reproductive care

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