Couples Carrier Screening

Name: Couples Carrier Screening
Brand: Eugene Labs
SKU: PCS04-M
Price: 678.00 USD
Availability: OutOfStock

$678.00

At-home genetic test bundle that screens couples for 620+ genes to check their risk of passing on a serious disease to their child. It includes a bulk billed Core test for the person assigned female at birth, which screens for cystic fibrosis, spinal muscular atrophy and fragile X, plus an extended panel for both reproductive partners with a combined report looking at 100's of other inherited conditions.

Medicare Eligibility

This test includes a bulk billed component, so it's important to check your Medicare eligibility before placing an order.

Please note this rebate is a once-per-lifetime benefit. If you’re not eligible, our Comprehensive carrier screening is a great option that’s available to you.

For heterosexual couples

Partially covered by Medicare. $949 out of pocket

1 kit, 2 swabs

No individual results, except CF, SMA & FXS for female at birth

Genetic counselling included

Results 6-8 weeks from when your sample arrives at lab

Download Comprehensive gene list

AR = autosomal recessive · XL = X-linked

Conditions screened: Couples carrier screening (626 conditions)

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

Gene	Condition	Inheritance
CFTR	Cystic fibrosis	Autosomal recessive
FMR1	Fragile X syndrome	X-linked
SMN1	Spinal muscular atrophy	Autosomal recessive
AAAS	Achalasia-addisonianism-alacrimia syndrome	Autosomal recessive
AARS2	Combined oxidative phosphorylation deficiency 8	Autosomal recessive
ABCA12	Ichthyosis, congenital, autosomal recessive 4A	Autosomal recessive
ABCA3	Surfactant metabolism dysfunction, pulmonary, 3	Autosomal recessive
ABCB11	Cholestasis, progressive familial intrahepatic 2	Autosomal recessive
ABCB4	Cholestasis, progressive familial intrahepatic 3	Autosomal recessive
ABCC8	Hyperinsulinemic hypoglycemia, familial, 1	Autosomal recessive
ABCD1	Adrenoleukodystrophy	X-linked
ACAD9	Mitochondrial complex I deficiency due to ACAD9 deficiency	Autosomal recessive
ACADM	Acyl-CoA dehydrogenase, medium chain, deficiency of	Autosomal recessive
ACADVL	VLCAD deficiency	Autosomal recessive
ACAT1	Alpha-methylacetoacetic aciduria	Autosomal recessive
ACOX1	Peroxisomal acyl-CoA oxidase deficiency	Autosomal recessive
ADA	Adenosine deaminase deficiency, partial	Autosomal recessive
ADAMTS2	Ehlers-Danlos syndrome, type VIIC	Autosomal recessive
ADAR	Aicardi-Goutieres syndrome 6	Autosomal recessive
ADGRG1	Polymicrogyria, bilateral frontoparietal	Autosomal recessive
ADGRV1	Usher syndrome, type 2C	Autosomal recessive
ADSL	Adenylosuccinase deficiency	Autosomal recessive
AGA	Aspartylglucosaminuria	Autosomal recessive
AGK	Sengers syndrome	Autosomal recessive
AGL	Glycogen storage disease IIIa	Autosomal recessive
AGPS	Chondrodysplasia punctata, rhizomelic, type 3	Autosomal recessive
AGXT	Hyperoxaluria, primary, type 1	Autosomal recessive
AHI1	Joubert syndrome-3	Autosomal recessive
AIFM1	Cowchock syndrome	X-linked
AIPL1	Cone-rod dystrophy	Autosomal recessive
AK2	Reticular dysgenesis	Autosomal recessive
ALDH18A1	Spastic paraplegia 9B, autosomal recessive	Autosomal recessive
ALDH3A2	Sjogren-Larsson syndrome	Autosomal recessive
ALDH5A1	Succinic semialdehyde dehydrogenase deficiency	Autosomal recessive
ALDH7A1	Epilepsy, pyridoxine-dependent	Autosomal recessive
ALDOB	Fructose intolerance	Autosomal recessive
ALG1	Congenital disorder of glycosylation, type Ik	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
ALPL	Hypophosphatasia, infantile	Autosomal recessive
AMPD2	Pontocerebellar hypoplasia, type 9	Autosomal recessive
AMT	Glycine encephalopathy	Autosomal recessive
AP1S2	Mental retardation, X-linked syndromic 5	X-linked
AQP2	Diabetes insipidus, nephrogenic	Autosomal recessive
ARG1	Argininemia	Autosomal recessive
ARL13B	Joubert syndrome 8	Autosomal recessive
ARL6	Bardet-Biedl syndrome 3	Autosomal recessive
ARSA	Metachromatic leukodystrophy	Autosomal recessive
ARSB	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	Autosomal recessive
ARX	Hydranencephaly with abnormal genitalia	X-linked
ASL	Argininosuccinic aciduria	Autosomal recessive
ASNS	Asparagine synthetase deficiency	Autosomal recessive
ASPA	Canavan disease	Autosomal recessive
ASPM	Microcephaly 5, primary, autosomal recessive	Autosomal recessive
ASS1	Citrullinemia	Autosomal recessive
ATM	Ataxia-telangiectasia	Autosomal recessive
ATP6V1B1	Renal tubular acidosis with deafness	Autosomal recessive
ATP7A	Menkes disease	X-linked
ATP7B	Wilson disease	Autosomal recessive
ATP8B1	Cholestasis, progressive familial intrahepatic 1	Autosomal recessive
ATR	Seckel syndrome 1	Autosomal recessive
ATRX	Mental retardation-hypotonic facies syndrome, X-linked	X-linked
AUH	3-methylglutaconic aciduria, type I	Autosomal recessive
B3GLCT	Peters-plus syndrome	Autosomal recessive
BBS1	Bardet-Biedl syndrome 1	Autosomal recessive
BBS10	Bardet-Biedl syndrome 10	Autosomal recessive
BBS12	Bardet-Biedl syndrome 12	Autosomal recessive
BBS2	Bardet-Biedl syndrome 2	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
BCKDHA	Maple syrup urine disease, type Ia	Autosomal recessive
BCKDHB	Maple syrup urine disease, type Ib	Autosomal recessive
BCS1L	GRACILE syndrome	Autosomal recessive
BLM	Bloom syndrome	Autosomal recessive
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal	Autosomal recessive
BRWD3	Mental retardation, X-linked 93	X-linked
BSND	Bartter syndrome, type 4a	Autosomal recessive
BTK	Agammaglobulinemia and isolated hormone deficiency	X-linked
CPLANE1	Joubert syndrome 17	Autosomal recessive
CANT1	Desbuquois dysplasia	Autosomal recessive
CAPN3	Muscular dystrophy, limb-girdle, type 2A	Autosomal recessive
CASK	Mental retardation	X-linked
CASQ2	Ventricular tachycardia, catecholaminergic polymorphic, 2	Autosomal recessive
CC2D1A	Mental retardation, autosomal recessive 3	Autosomal recessive
CC2D2A	Joubert syndrome 9	Autosomal recessive
CCBE1	Hennekam lymphangiectasia-lymphedema syndrome 1	Autosomal recessive
CCDC103	Ciliary dyskinesia, primary, 17	Autosomal recessive
CCDC39	Ciliary dyskinesia, primary, 14	Autosomal recessive
CCDC88C	Hydrocephalus, nonsyndromic, autosomal recessive	Autosomal recessive
CD3D	Immunodeficiency 19	Autosomal recessive
CD40	Immunodeficiency with hyper-IgM, type 3	Autosomal recessive
CD40LG	Immunodeficiency, X-linked, with hyper-IgM	X-linked
CDH23	Usher syndrome, type 1D	Autosomal recessive
CENPJ	Microcephaly 6, primary, autosomal recessive	Autosomal recessive
CEP152	Seckel syndrome 5	Autosomal recessive
CEP290	Joubert syndrome 5	Autosomal recessive
CEP41	Joubert syndrome 15	Autosomal recessive
CHAT	Myasthenic syndrome, congenital, 6, presynaptic	Autosomal recessive
CHRNE	Myasthenic syndrome, congenital, 4A, slow-channel	Autosomal recessive
CHRNG	Escobar syndrome	Autosomal recessive
CIITA	Bare lymphocyte syndrome, type II, complementation group A	Autosomal recessive
CKAP2L	Filippi syndrome	Autosomal recessive
CLCN5	Dent disease	X-linked
CLCN7	Osteopetrosis, autosomal recessive 4	Autosomal recessive
CLN5	Ceroid lipofuscinosis, neuronal, 5	Autosomal recessive
CLN6	Ceroid lipofuscinosis, neuronal 6	Autosomal recessive
CLN8	Ceroid lipofuscinosis, neuronal, 8	Autosomal recessive
CLP1	Pontocerebellar hypoplasia, type 10	Autosomal recessive
CLPB	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	Autosomal recessive
CLRN1	Usher syndrome, type 3A	Autosomal recessive
CNGB3	Macular degeneration, juvenile	Autosomal recessive
COL11A2	Fibrochondrogenesis 2	Autosomal recessive
COL17A1	Epidermolysis bullosa, junctional, non-Herlitz type	Autosomal recessive
COL18A1	Knobloch syndrome, type 1	Autosomal recessive
COL27A1	Steel Syndrome	Autosomal recessive
COL4A3	Alport syndrome, autosomal recessive	Autosomal recessive
COL4A4	Alport syndrome, autosomal recessive	Autosomal recessive
COL4A5	Alport syndrome 1	X-linked
COL6A1	Ullrich congenital muscular dystrophy 1	Autosomal recessive
COL7A1	Epidermolysis bullosa dystrophica, AR	Autosomal recessive
COLEC11	3MC syndrome 2	Autosomal recessive
COLQ	Myasthenic syndrome, congenital, 5	Autosomal recessive
COX15	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2	Autosomal recessive
CPS1	Carbamoylphosphate synthetase I deficiency	Autosomal recessive
CPT1A	CPT deficiency, hepatic, type IA	Autosomal recessive
CPT2	CPT II deficiency, lethal neonatal	Autosomal recessive
CRB1	Leber congenital amaurosis 8	Autosomal recessive
CRTAP	Osteogenesis imperfecta, type VII	Autosomal recessive
CSPP1	Joubert syndrome 21	Autosomal recessive
CTNS	Cystinosis, nephropathic	Autosomal recessive
CTSA	Galactosialidosis	Autosomal recessive
CTSC	Papillon-Lefevre syndrome	Autosomal recessive
CTSD	Ceroid lipofuscinosis, neuronal, 10	Autosomal recessive
CTSK	Pycnodysostosis	Autosomal recessive
CUL4B	Mental retardation, X-linked, syndromic 15 (Cabezas type)	X-linked
CYBA	Chronic granulomatous disease, autosomal, due to deficiency of CYBA	Autosomal recessive
CYBB	Chronic granulomatous disease, X-linked	X-linked
CYP11A1	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	Autosomal recessive
CYP11B2	Hypoaldosteronism, congenital, due to CMO I deficiency	Autosomal recessive
CYP17A1	17,20-lyase deficiency, isolated	Autosomal recessive
CYP1B1	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	Autosomal recessive
CYP27A1	Cerebrotendinous xanthomatosis	Autosomal recessive
CYP7B1	Bile acid synthesis defect, congenital, 3	Autosomal recessive
D2HGDH	D-2-hydroxyglutaric aciduria	Autosomal recessive
DBT	Maple syrup urine disease, type II	Autosomal recessive
DCAF17	Woodhouse-Sakati syndrome	Autosomal recessive
DCLRE1C	Severe combined immunodeficiency, Athabascan type	Autosomal recessive
DCX	Lissencephaly, X-linked	X-linked
DDC	Aromatic L-amino acid decarboxylase deficiency	Autosomal recessive
DDX11	Warsaw breakage syndrome	Autosomal recessive
DGAT1	Diarrhea 7	Autosomal recessive
DGUOK	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Autosomal recessive
DHCR24	Desmosterolosis	Autosomal recessive
DHCR7	Smith-Lemli-Opitz syndrome	Autosomal recessive
DHDDS	Retinitis pigmentosa 59	Autosomal recessive
DIS3L2	Perlman syndrome	Autosomal recessive
DKC1	Dyskeratosis congenita, X-linked	X-linked
DLD	Dihydrolipoamide dehydrogenase deficiency	Autosomal recessive
DLG3	Mental retardation, X-linked 90	X-linked
DLL3	Spondylocostal dysostosis 1, autosomal recessive	Autosomal recessive
DMD	Duchenne muscular dystrophy	X-linked
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus	Autosomal recessive
DNAH5	Ciliary dyskinesia, primary, 3, with or without situs inversus	Autosomal recessive
DNAI1	Ciliary dyskinesia, primary, 1, with or without situs inversus	Autosomal recessive
DNAI2	Ciliary dyskinesia, primary, 9, with or without situs inversus	Autosomal recessive
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Autosomal recessive
DOCK6	Adams-Oliver syndrome 2	Autosomal recessive
DOK7	Myasthenic syndrome, congenital, 10	Autosomal recessive
DYM	Dyggve-Melchior-Clausen disease	Autosomal recessive
DYNC2H1	Short-rib thoracic dysplasia 3 with or without polydactyly	Autosomal recessive
DYSF	Muscular dystrophy, limb-girdle, type 2B	Autosomal recessive
ECHS1	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	Autosomal recessive
EDA	Ectodermal dysplasia 1, hypohidrotic, X-linked	X-linked
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	Leukoencephaly with vanishing white matter	Autosomal recessive
EIF2B5	Leukoencephalopathy with vanishing white matter	Autosomal recessive
ELP1	Dysautonomia, familial	Autosomal recessive
EMD	Emery-Dreifuss muscular dystrophy 1, X-linked	X-linked
ENPP1	Hypophosphatemic rickets, autosomal recessive, 2	Autosomal recessive
EPG5	Vici syndrome	Autosomal recessive
ERCC2	Cerebrooculofacioskeletal syndrome 2	Autosomal recessive
ERCC4	Fanconi anemia, complementation group Q	Autosomal recessive
ERCC5	Xeroderma pigmentosum, group G	Autosomal recessive
ERCC6	Cockayne syndrome, type B	Autosomal recessive
ERCC8	Cockayne syndrome, type A	Autosomal recessive
ESCO2	SC phocomelia syndrome	Autosomal recessive
ETFA	Glutaric acidemia IIA	Autosomal recessive
ETFB	Glutaric acidemia IIB	Autosomal recessive
ETFDH	Glutaric acidemia IIC	Autosomal recessive
ETHE1	Ethylmalonic encephalopathy	Autosomal recessive
EVC	Ellis-van Creveld syndrome	Autosomal recessive
EVC2	Ellis-van Creveld syndrome	Autosomal recessive
EXOSC3	Pontocerebellar hypoplasia, type 1B	Autosomal recessive
EXOSC8	Pontocerebellar hypoplasia, type 1C	Autosomal recessive
F2	Hypoprothrombinaemia (MIM#613679);Dysprothrombinaemia	Autosomal recessive
FAH	Tyrosinemia, type I	Autosomal recessive
FAM126A	Leukodystrophy, hypomyelinating, 5	Autosomal recessive
FANCA	Fanconi anemia, complementation group A	Autosomal recessive
FANCB	Fanconi anemia, complementation group B	X-linked
FANCC	Fanconi anemia, complementation group C	Autosomal recessive
FANCD2	Fanconi anemia, complementation group D2	Autosomal recessive
FANCE	Fanconi anemia, complementation group E	Autosomal recessive
FANCF	Fanconi anemia, complementation group F	Autosomal recessive
FANCG	Fanconi anemia, complementation group G	Autosomal recessive
FANCI	Fanconi anemia, complementation group I	Autosomal recessive
FANCL	Fanconi anemia, complementation group L	Autosomal recessive
FAT4	Hennekam lymphangiectasia-lymphedema syndrome 2	Autosomal recessive
FBP1	Fructose-1,6-bisphosphatase deficiency	Autosomal recessive
FBXO7	Parkinson disease 15, autosomal recessive	Autosomal recessive
FH	Fumarase deficiency	Autosomal recessive
FHL1	Emery-Dreifuss muscular dystrophy 6, X-linked	X-linked
FKBP10	Bruck syndrome 1	Autosomal recessive
FKRP	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5	Autosomal recessive
FKTN	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Autosomal recessive
FLNA	FG syndrome 2	X-linked
FOXN1	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	Autosomal recessive
FOXRED1	Mitochondrial complex I deficiency	Autosomal recessive
FRAS1	Fraser syndrome	Autosomal recessive
FREM2	Fraser syndrome	Autosomal recessive
FTSJ1	Mental retardation, X-linked 9	X-linked
FUCA1	Fucosidosis	Autosomal recessive
G6PC	Glycogen storage disease Ia	Autosomal recessive
G6PC3	Dursun syndrome	Autosomal recessive
GAA	Glycogen storage disease II	Autosomal recessive
GALC	Krabbe disease	Autosomal recessive
GALNS	Mucopolysaccharidosis IVA	Autosomal recessive
GALT	Galactosemia	Autosomal recessive
GAMT	Cerebral creatine deficiency syndrome 2	Autosomal recessive
GATM	Cerebral creatine deficiency syndrome 3	Autosomal recessive
GBE1	Glycogen storage disease IV	Autosomal recessive
GCDH	Glutaricaciduria, type I	Autosomal recessive
GCH1	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	Autosomal recessive
GDAP1	Charcot-Marie-Tooth disease, recessive intermediate, A	Autosomal recessive
GDF1	Right atrial isomerism	Autosomal recessive
GDF5	Chondrodysplasia, Grebe type	Autosomal recessive
GFM1	Combined oxidative phosphorylation deficiency 1	Autosomal recessive
GHR	Laron dwarfism	Autosomal recessive
GJB1	Charcot-Marie-Tooth neuropathy, X-linked dominant	X-linked
GLA	Fabry disease	X-linked
GLB1	Mucopolysaccharidosis type IVB (Morquio)	Autosomal recessive
GLDC	Glycine encephalopathy	Autosomal recessive
GLE1	Arthrogryposis, lethal, with anterior horn cell disease	Autosomal recessive
GNB5	Intellectual developmental disorder with cardiac arrhythmia, 617173 (3)	Autosomal recessive
GNPAT	Chondrodysplasia punctata, rhizomelic, type 2	Autosomal recessive
GNPTAB	Mucolipidosis III alpha/beta	Autosomal recessive
GNPTG	Mucolipidosis III gamma	Autosomal recessive
GNS	Mucopolysaccharidosis type IIID	Autosomal recessive
GORAB	Geroderma osteodysplasticum	Autosomal recessive
GPC3	Simpson-Golabi-Behmel syndrome, type 1	X-linked
GPSM2	Chudley-McCullough syndrome	Autosomal recessive
GSS	Glutathione synthetase deficiency	Autosomal recessive
GUCY2D	Leber congenital amaurosis 1	Autosomal recessive
GUSB	Mucopolysaccharidosis VII	Autosomal recessive
HADH	3-hydroxyacyl-CoA dehydrogenase deficiency	Autosomal recessive
HADHA	Fatty liver, acute, of pregnancy	Autosomal recessive
HADHB	Trifunctional protein deficiency	Autosomal recessive
HAMP	Hemochromatosis, type 2B	Autosomal recessive
HAX1	Neutropenia, severe congenital 3, autosomal recessive	Autosomal recessive
HBB	Thalassemias, beta-	Autosomal recessive
HCFC1	Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type)	X-linked
HEXA	Tay-Sachs disease	Autosomal recessive
HEXB	Sandhoff disease, infantile, juvenile, and adult forms	Autosomal recessive
HJV	Hemochromatosis, type 2A	Autosomal recessive
HGSNAT	Mucopolysaccharidosis type IIIC (Sanfilippo C)	Autosomal recessive
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency	Autosomal recessive
HLCS	Holocarboxylase synthetase deficiency	Autosomal recessive
HMGCL	HMG-CoA lyase deficiency	Autosomal recessive
HMGCS2	HMG-CoA synthase-2 deficiency	Autosomal recessive
HPD	Tyrosinemia, type III	Autosomal recessive
HPRT1	Lesch-Nyhan syndrome	X-linked
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
HSD17B4	D-bifunctional protein deficiency	Autosomal recessive
HSD3B2	3-beta-hydroxysteroid dehydrogenase, type II, deficiency	Autosomal recessive
HUWE1	Mental retardation, X-linked syndromic, Turner type	X-linked
HYLS1	Hydrolethalus syndrome	Autosomal recessive
IDS	Mucopolysaccharidosis II	X-linked
IDUA	Mucopolysaccharidosis Ih	Autosomal recessive
IGHMBP2	Neuronopathy, distal hereditary motor, type VI	Autosomal recessive
IKBKB	Immunodeficiency 15	Autosomal recessive
IL1RAPL1	Mental retardation, X-linked 21/34	X-linked
IL2RG	Severe combined immunodeficiency, X-linked	X-linked
IL7R	Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type	Autosomal recessive
INPP5E	Joubert syndrome 1	Autosomal recessive
INVS	Nephronophthisis 2, infantile	Autosomal recessive
IQSEC2	Mental retardation, X-linked 1	X-linked
ITGA6	Epidermolysis bullosa, junctional, with pyloric stenosis	Autosomal recessive
ITGB4	Epidermolysis bullosa, junctional, with pyloric atresia	Autosomal recessive
ITPR1	Gillespie syndrome, 206700 (3)	Autosomal recessive
IVD	Isovaleric acidemia	Autosomal recessive
JAK3	SCID, autosomal recessive, T-negative/B-positive type	Autosomal recessive
KATNB1	Lissencephaly 6, with microcephaly	Autosomal recessive
KCNJ1	Bartter syndrome, type 2	Autosomal recessive
KCNJ11	Hyperinsulinemic hypoglycemia, familial, 2	Autosomal recessive
KCNQ1	Jervell and Lange-Nielsen syndrome	Autosomal recessive
KDM5C	Mental retardation, X-linked, syndromic, Claes-Jensen type	X-linked
KIF1A	Spastic paraplegia 30, autosomal recessive	Autosomal recessive
KIF7	Hydrolethalus syndrome 2	Autosomal recessive
KRT14	Epidermolysis bullosa simplex, recessive 1	Autosomal recessive
L1CAM	MASA syndrome	X-linked
L2HGDH	L-2-hydroxyglutaric aciduria	Autosomal recessive
LAMA2	Muscular dystrophy, congenital merosin-deficient	Autosomal recessive
LAMA3	Epidermolysis bullosa, junctional, Herlitz type	Autosomal recessive
LAMB1	Lissencephaly 5	Autosomal recessive
LAMB2	Pierson syndrome	Autosomal recessive
LAMB3	Epidermolysis bullosa, junctional, Herlitz type	Autosomal recessive
LAMC2	Epidermolysis bullosa, junctional, Herlitz type	Autosomal recessive
LARGE1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6	Autosomal recessive
LARS	Infantile liver failure syndrome 1	Autosomal recessive
LCA5	Leber congenital amaurosis 5	Autosomal recessive
LDLR	LDL cholesterol level QTL2/Hypercholesterolemia	Autosomal recessive
LDLRAP1	Hypercholesterolemia, familial, autosomal recessive	Autosomal recessive
LHX3	Pituitary hormone deficiency, combined, 3	Autosomal recessive
LIFR	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	Autosomal recessive
LIG4	LIG4 syndrome	Autosomal recessive
LIPA	Cholesteryl ester storage disease	Autosomal recessive
LMBRD1	Methylmalonic aciduria and homocystinuria, cblF type	Autosomal recessive
LMNA	Restrictive dermopathy, lethal	Autosomal recessive
LPL	Lipoprotein lipase deficiency	Autosomal recessive
LRAT	Leber congenital amaurosis 14	Autosomal recessive
LRP2	Donnai-Barrow syndrome	Autosomal recessive
LRPPRC	Leigh syndrome, French-Canadian type	Autosomal recessive
LYST	Chediak-Higashi syndrome	Autosomal recessive
LZTFL1	Bardet-Biedl syndrome 17	Autosomal recessive
MAN2B1	Mannosidosis, alpha-, types I and II	Autosomal recessive
MANBA	Mannosidosis, beta	Autosomal recessive
MASP1	3MC syndrome 1	Autosomal recessive
MCOLN1	Mucolipidosis IV	Autosomal recessive
MCPH1	Microcephaly 1, primary, autosomal recessive	Autosomal recessive
MECP2	Encephalopathy, neonatal severe	X-linked
MED12	Lujan-Fryns syndrome	X-linked
MED17	Microcephaly, postnatal progressive, with seizures and brain atrophy	Autosomal recessive
MESP2	Spondylocostal dysostosis 2, autosomal recessive	Autosomal recessive
METTL23	Mental retardation, autosomal recessive 44	Autosomal recessive
MFN2	Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3)	Autosomal recessive
MFSD8	Ceroid lipofuscinosis, neuronal, 7	Autosomal recessive
MID1	Opitz GBBB syndrome, type I	X-linked
MKKS	McKusick-Kaufman syndrome	Autosomal recessive
MKS1	Meckel syndrome 1	Autosomal recessive
MLC1	Megalencephalic leukoencephalopathy with subcortical cysts	Autosomal recessive
MLYCD	Malonyl-CoA decarboxylase deficiency	Autosomal recessive
MMAA	Methylmalonic aciduria, vitamin B12-responsive	Autosomal recessive
MMAB	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	Autosomal recessive
MMACHC	Methylmalonic aciduria and homocystinuria, cblC type	Autosomal recessive
MMADHC	Methylmalonic aciduria and homocystinuria, cblD type	Autosomal recessive
MOCS1	Molybdenum cofactor deficiency A	Autosomal recessive
MOCS2	Molybdenum cofactor deficiency B	Autosomal recessive
MPI	Congenital disorder of glycosylation, type Ib	Autosomal recessive
MPL	Thrombocytopenia, congenital amegakaryocytic	Autosomal recessive
MPV17	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Autosomal recessive
MRE11	Ataxia-telangiectasia-like disorder	Autosomal recessive
MTFMT	Combined oxidative phosphorylation deficiency 15	Autosomal recessive
MTHFR	Homocystinuria due to MTHFR deficiency	Autosomal recessive
MTM1	Myotubular myopathy, X-linked	X-linked
MTMR2	Charcot-Marie-Tooth disease, type 4B1	Autosomal recessive
MTR	Homocystinuria-megaloblastic anemia, cblG complementation type	Autosomal recessive
MTRR	Homocystinuria-megaloblastic anemia, cbl E type	Autosomal recessive
MTTP	Abetalipoproteinemia	Autosomal recessive
MUSK	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Autosomal recessive
MUT	Methylmalonic aciduria, mut(0) type	Autosomal recessive
MVK	Mevalonic aciduria	Autosomal recessive
MYO5B	Microvillus inclusion disease	Autosomal recessive
MYO7A	Usher syndrome, type 1B	Autosomal recessive
NAGA	Schindler disease, type I	Autosomal recessive
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)	Autosomal recessive
NAGS	N-acetylglutamate synthase deficiency	Autosomal recessive
NALCN	Hypotonia, infantile, with psychomotor retardation and characteristic facies	Autosomal recessive
NARS2	Combined oxidative phosphorylation deficiency 24	Autosomal recessive
NBN	Nijmegen breakage syndrome	Autosomal recessive
NCF2	Chronic granulomatous disease due to deficiency of NCF-2	Autosomal recessive
NDE1	Lissencephaly 4 (with microcephaly)	Autosomal recessive
NDP	Norrie disease	X-linked
NDRG1	Charcot-Marie-Tooth disease, type 4D	Autosomal recessive
NDUFAF2	Leigh syndrome	Autosomal recessive
NDUFAF5	Mitochondrial complex 1 deficiency	Autosomal recessive
NDUFS4	Leigh syndrome	Autosomal recessive
NDUFS6	Mitochondrial complex I deficiency	Autosomal recessive
NDUFS7	Leigh syndrome	Autosomal recessive
NDUFV1	Mitochondrial complex I deficiency	Autosomal recessive
NEB	Arthrogryposis multiplex congenita 6 (MIM#619334);Nemaline myopathy 2	Autosomal recessive
NEU1	Sialidosis, type I	Autosomal recessive
NGLY1	Congenital disorder of deglycosylation	Autosomal recessive
NNT	Glucocorticoid deficiency 4	Autosomal recessive
NPC1	Niemann-Pick disease, type C1	Autosomal recessive
NPC2	Niemann-pick disease, type C2	Autosomal recessive
NPHP1	Joubert syndrome 4	Autosomal recessive
NPHP3	Meckel syndrome 7	Autosomal recessive
NPHS1	Nephrotic syndrome, type 1	Autosomal recessive
NPHS2	Nephrotic syndrome, type 2	Autosomal recessive
NR0B1	46XY sex reversal 2, dosage-sensitive	X-linked
NTRK1	Insensitivity to pain, congenital, with anhidrosis	Autosomal recessive
OCRL	Lowe syndrome	X-linked
OFD1	Joubert syndrome 10	X-linked
OPA1	Behr syndrome, 210000 (3)	Autosomal recessive
OPA3	3-methylglutaconic aciduria, type III	Autosomal recessive
OPHN1	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance	X-linked
OSGEP	Galloway-Mowat syndrome 3, 617729 (3)	Autosomal recessive
OSTM1	Osteopetrosis, autosomal recessive 5	Autosomal recessive
OTC	Ornithine transcarbamylase deficiency	X-linked
P3H1	Osteogenesis imperfecta, type VIII	Autosomal recessive
PAH	Phenylketonuria	Autosomal recessive
PAK3	Mental retardation, X-linked 30/47	X-linked
PANK2	Neurodegeneration with brain iron accumulation 1	Autosomal recessive
PC	Pyruvate carboxylase deficiency	Autosomal recessive
PCCA	Propionicacidemia	Autosomal recessive
PCCB	Propionicacidemia	Autosomal recessive
PCDH15	Usher syndrome, type 1F	Autosomal recessive
PCDH19	Developmental and epileptic encephalopathy 9 (MIM#300088)	X-linked
PCNT	Microcephalic osteodysplastic primordial dwarfism, type II	Autosomal recessive
PDHA1	Pyruvate dehydrogenase E1-alpha deficiency (MIM#312170)	X-linked
PDHB	Pyruvate dehydrogenase E1-beta deficiency	Autosomal recessive
PEPD	Prolidase deficiency	Autosomal recessive
PET100	Mitochondrial complex IV deficiency	Autosomal recessive
PEX1	Peroxisome biogenesis disorder 1A (Zellweger)	Autosomal recessive
PEX10	Peroxisome biogenesis disorder 6A (Zellweger)	Autosomal recessive
PEX12	Peroxisome biogenesis disorder 3A (Zellweger)	Autosomal recessive
PEX13	Peroxisome biogenesis disorder 11A (Zellweger)	Autosomal recessive
PEX16	Peroxisome biogenesis disorder 8A, (Zellweger)	Autosomal recessive
PEX2	Peroxisome biogenesis disorder 5A (Zellweger)	Autosomal recessive
PEX26	Peroxisome biogenesis disorder 7A (Zellweger)	Autosomal recessive
PEX5	Peroxisome biogenesis disorder 2A (Zellweger)	Autosomal recessive
PEX6	Peroxisome biogenesis disorder 4A (Zellweger)	Autosomal recessive
PEX7	Chondrodysplasia punctata, rhizomelic, type 1	Autosomal recessive
PFKM	Glycogen storage disease VII	Autosomal recessive
PGAP2	Hyperphosphatasia with mental retardation syndrome 3	Autosomal recessive
PGK1	Phosphoglycerate kinase 1 deficiency	X-linked
PGM1	Congenital disorder of glycosylation, type It	Autosomal recessive
PGM3	Immunodeficiency 23	Autosomal recessive
PHF8	Mental retardation syndrome, X-linked, Siderius type	X-linked
PHGDH	Neu-Laxova syndrome1	Autosomal recessive
PHYH	Refsum disease	Autosomal recessive
PIBF1	Joubert syndrome 33 (MIM#617767)	Autosomal recessive
PIGG	Mental retardation, autosomal recessive 53	Autosomal recessive
PIGN	Multiple congenital anomalies-hypotonia-seizures syndrome 1	Autosomal recessive
PIGT	Multiple congenital anomalies-hypotonia-seizures syndrome 3	Autosomal recessive
PKHD1	Polycystic kidney and hepatic disease	Autosomal recessive
PLA2G6	Neurodegeneration with brain iron accumulation 2B MIM#610217;Infantile neuroaxonal dystrophy 1 MIM#256600	Autosomal recessive
PLOD1	Ehlers-Danlos syndrome, type VI	Autosomal recessive
PLP1	Pelizaeus-Merzbacher disease	X-linked
PLPBP	Epilepsy, early-onset, vitamin B6-dependent, 617290 (3)	Autosomal recessive
PMM2	Congenital disorder of glycosylation, type Ia	Autosomal recessive
PNKP	Microcephaly, seizures, and developmental delay	Autosomal recessive
PNPO	Pyridoxamine 5'-phosphate oxidase deficiency	Autosomal recessive
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type)	Autosomal recessive
POLR1C	Treacher Collins syndrome 3	Autosomal recessive
POLR3B	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	Autosomal recessive
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	Autosomal recessive
POMT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	Autosomal recessive
POMT2	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	Autosomal recessive
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Autosomal recessive
POU1F1	Pituitary hormone deficiency, combined, 1	Autosomal recessive
PPT1	Ceroid lipofuscinosis, neuronal, 1	Autosomal recessive
PQBP1	Renpenning syndrome	X-linked
PRDM5	Brittle cornea syndrome 2	Autosomal recessive
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2	Autosomal recessive
PROP1	Pituitary hormone deficiency, combined, 2	Autosomal recessive
PRPS1	Arts syndrome	X-linked
PSAP	Metachromatic leukodystrophy due to SAP-b deficiency	Autosomal recessive
PTS	Hyperphenylalaninemia, BH4-deficient, A	Autosomal recessive
PUS1	Mitochondrial myopathy and sideroblastic anemia 1	Autosomal recessive
QDPR	Hyperphenylalaninemia, BH4-deficient, C	Autosomal recessive
RAB18	Warburg micro syndrome 3	Autosomal recessive
RAB23	Carpenter syndrome	Autosomal recessive
RAB3GAP1	Warburg micro syndrome 1	Autosomal recessive
RAB3GAP2	Warburg micro syndrome 2	Autosomal recessive
RAG1	Severe combined immunodeficiency, B cell-negative	Autosomal recessive
RAG2	Severe combined immunodeficiency, B cell-negative	Autosomal recessive
RAPSN	Fetal akinesia deformation sequence	Autosomal recessive
RARS2	Pontocerebellar hypoplasia, type 6	Autosomal recessive
RAX	Microphthalmia, isolated 3	Autosomal recessive
RBBP8	Seckel syndrome 2	Autosomal recessive
RDH12	Leber congenital amaurosis 13	Autosomal recessive
RMND1	Combined oxidative phosphorylation deficiency 11	Autosomal recessive
RMRP	Cartilage-hair hypoplasia	Autosomal recessive
RNASEH2A	Aicardi-Goutieres syndrome 4	Autosomal recessive
RNASEH2B	Aicardi-Goutieres syndrome 2	Autosomal recessive
RNASEH2C	Aicardi-Goutieres syndrome 3	Autosomal recessive
RP2	Retinitis pigmentosa 2	X-linked
RPE65	Leber congenital amaurosis 2	Autosomal recessive
RPGRIP1L	Meckel syndrome 5	Autosomal recessive
RPS6KA3	Coffin-Lowry syndrome	X-linked
RTEL1	Dyskeratosis congenita, autosomal recessive 5	Autosomal recessive
RYR1	Central core disease, MIM# 117000;Neuromuscular disease, congenital, with uniform type 1 fiber	Autosomal recessive
SACS	Spastic ataxia, Charlevoix-Saguenay type	Autosomal recessive
SAMHD1	Aicardi-Goutieres syndrome 5	Autosomal recessive
SC5D	Lathosterolosis	Autosomal recessive
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Autosomal recessive
SDCCAG8	Bardet-Biedl syndrome 16	Autosomal recessive
SEC23B	Dyserythropoietic anemia, congenital, type II	Autosomal recessive
SEPSECS	Pontocerebellar hypoplasia type 2D	Autosomal recessive
SERAC1	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Autosomal recessive
SERPINH1	Orofaciodigital syndrome VI	Autosomal recessive
SGCA	Muscular dystrophy, limb-girdle, type 2D	Autosomal recessive
SGCB	Muscular dystrophy, limb-girdle, type 2E	Autosomal recessive
SGCD	Muscular dystrophy, limb-girdle, type 2F	Autosomal recessive
SGCG	Muscular dystrophy, limb-girdle, type 2C	Autosomal recessive
SGSH	Mucopolysaccharidisis type IIIA (Sanfilippo A)	Autosomal recessive
SH3TC2	Charcot-Marie-Tooth disease, type 4C	Autosomal recessive
SKIV2L	Trichohepatoenteric syndrome 2	Autosomal recessive
SLC12A1	Bartter syndrome, type 1	Autosomal recessive
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy	Autosomal recessive
SLC16A2	Allan-Herndon-Dudley syndrome	X-linked
SLC17A5	Sialic acid storage disorder, infantile	Autosomal recessive
SLC19A2	Thiamine-responsive megaloblastic anemia syndrome	Autosomal recessive
SLC19A3	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	Autosomal recessive
SLC1A4	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	Autosomal recessive
SLC22A5	Carnitine deficiency, systemic primary	Autosomal recessive
SLC25A1	Combined D-2- and L-2-hydroxyglutaric aciduria	Autosomal recessive
SLC25A13	Citrullinemia, type II, neonatal-onset	Autosomal recessive
SLC25A15	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	Autosomal recessive
SLC26A2	Achondrogenesis Ib	Autosomal recessive
SLC26A3	Diarrhea 1, secretory chloride, congenital	Autosomal recessive
SLC35A3	Arthrogryposis, mental retardation	Autosomal recessive
SLC37A4	Glycogen storage disease Ib	Autosomal recessive
SLC38A8	Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis	Autosomal recessive
SLC39A4	Acrodermatitis enteropathica	Autosomal recessive
SLC45A2	Albinism, oculocutaneous, type IV	Autosomal recessive
SLC46A1	Folate malabsorption, hereditary	Autosomal recessive
SLC52A2	Brown-Vialetto-Van Laere syndrome 2	Autosomal recessive
SLC52A3	Brown-Vialetto-Van Laere syndrome 1	Autosomal recessive
SLC6A5	Hyperekplexia 3	Autosomal recessive
SLC6A8	Cerebral creatine deficiency syndrome 1	X-linked
SLC7A7	Lysinuric protein intolerance	Autosomal recessive
SMARCAL1	Schimke immunoosseous dysplasia	Autosomal recessive
SMPD1	Niemann-Pick disease, type A	Autosomal recessive
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	Autosomal recessive
SPATA5	Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3)	Autosomal recessive
SPG11	Spastic paraplegia 11, autosomal recessive	Autosomal recessive
SPINK5	Netherton syndrome	Autosomal recessive
SPR	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	Autosomal recessive
ST3GAL5	Salt and pepper developmental regression syndrome, 609056 (3)	Autosomal recessive
STAR	Lipoid adrenal hyperplasia	Autosomal recessive
STX11	Hemophagocytic lymphohistiocytosis, familial, 4	Autosomal recessive
STXBP2	Hemophagocytic lymphohistiocytosis, familial, 5	Autosomal recessive
SUMF1	Multiple sulfatase deficiency	Autosomal recessive
SUOX	Sulfite oxidase deficiency	Autosomal recessive
SURF1	Leigh syndrome, due to COX deficiency	Autosomal recessive
SYN1	Epilepsy, X-linked, with variable learning disabilities and behavior disorders	X-linked
TANGO2	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias	Autosomal recessive
TAT	Tyrosinemia	Autosomal recessive
TAZ	Barth syndrome	X-linked
TBC1D23	Pontocerebellar hypoplasia, type 11, 617695 (3)	Autosomal recessive
TBC1D24	Epileptic encephalopathy, early infantile, 16	Autosomal recessive
TBCD	Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3)	Autosomal recessive
TBCE	Kenny-Caffey syndrome-1	Autosomal recessive
TCIRG1	Osteopetrosis, autosomal recessive 1	Autosomal recessive
TCN2	Transcobalamin II deficiency	Autosomal recessive
TCTN2	Joubert syndrome 24	Autosomal recessive
TCTN3	Joubert syndrome 18	Autosomal recessive
TECPR2	Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay	Autosomal recessive
TELO2	You-Hoover-Fong syndrome, 616954 (3)	Autosomal recessive
TF	Atransferrinemia	Autosomal recessive
TGM1	Ichthyosis, congenital, autosomal recessive 1	Autosomal recessive
TH	Segawa syndrome, recessive	Autosomal recessive
THOC2	Mental retardation, X-linked 12/35, 300957 (3)	X-linked
TK2	Mitochondrial DNA depletion syndrome 2 (myopathic type)	Autosomal recessive
TMEM138	Joubert syndrome 16	Autosomal recessive
TMEM216	Joubert syndrome 2	Autosomal recessive
TMEM231	Joubert syndrome 20	Autosomal recessive
TMEM237	Joubert syndrome 14	Autosomal recessive
TMEM67	Joubert syndrome 6	Autosomal recessive
TMTC3	Lissencephaly 8, 617255 (3)	Autosomal recessive
TOE1	Pontocerebellar hypoplasia, type 7, 614969 (3)	Autosomal recessive
TPP1	Ceroid lipofuscinosis, neuronal, 2	Autosomal recessive
TRDN	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	Autosomal recessive
TREX1	Aicardi-Goutieres syndrome 1, dominant and recessive	Autosomal recessive
TRIM32	Muscular dystrophy, limb-girdle, type 2H	Autosomal recessive
TRIM37	Mulibrey nanism	Autosomal recessive
TRMU	Liver failure, transient infantile	Autosomal recessive
TRPM6	Hypomagnesemia 1, intestinal	Autosomal recessive
TSEN2	Pontocerebellar hypoplasia type 2B	Autosomal recessive
TSEN54	Pontocerebellar hypoplasia type 2A	Autosomal recessive
TSFM	Combined oxidative phosphorylation deficiency 3	Autosomal recessive
TSHB	Hypothryoidism, congenital, nongoitrous 4	Autosomal recessive
TTC37	Trichohepatoenteric syndrome 1	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	Retinitis pigmentosa 14	Autosomal recessive
TWNK	Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)	Autosomal recessive
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	Autosomal recessive
TYR	Albinism, oculocutaneous, type IA	Autosomal recessive
TYRP1	Albinism, oculocutaneous, type III	Autosomal recessive
UBA5	Epileptic encephalopathy, early infantile, 44, 617132 (3)	Autosomal recessive
UBE2T	Fanconi anemia, complementation group T	Autosomal recessive
UBR1	Johanson-Blizzard syndrome	Autosomal recessive
UGT1A1	Crigler-Najjar syndrome, type I	Autosomal recessive
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3	Autosomal recessive
UPF3B	Mental retardation, X-linked, syndromic 14	X-linked
USH1C	Usher syndrome, type 1C	Autosomal recessive
USH1G	Usher syndrome, type 1G	Autosomal recessive
USH2A	Usher syndrome, type 2A	Autosomal recessive
USP9X	Mental retardation, X-linked 99	X-linked
VLDLR	Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1	Autosomal recessive
VPS11	Leukodystrophy, hypomyelinating, 12, 616683 (3)	Autosomal recessive
VPS13B	Cohen syndrome	Autosomal recessive
VPS45	Neutropenia, severe congenital, 5, autosomal recessive	Autosomal recessive
VPS53	Pontocerebellar hypoplasia, type 2E	Autosomal recessive
VRK1	Pontocerebellar hypoplasia type 1A	Autosomal recessive
VSX2	Microphthalmia with coloboma 3	Autosomal recessive
WAS	Wiskott-Aldrich syndrome	X-linked
WDR34	Short-rib thoracic dysplasia 11 with or without polydactyly	Autosomal recessive
WDR62	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Autosomal recessive
WDR81	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2	Autosomal recessive
WHRN	Usher syndrome, type 2D	Autosomal recessive
WISP3	Arthropathy, progressive pseudorheumatoid, of childhood	Autosomal recessive
WRN	Werner syndrome	Autosomal recessive
WWOX	Epileptic encephalopathy, early infantile, 28	Autosomal recessive
XIAP	Lymphoproliferative syndrome, X-linked, 2	X-linked
XPA	Xeroderma pigmentosum, group A	Autosomal recessive
XPC	Xeroderma pigmentosum, group C	Autosomal recessive
YARS2	Myopathy, lactic acidosis, and sideroblastic anemia 2	Autosomal recessive
ZBTB24	Immunodeficiency-centromeric instability-facial anomalies syndrome-2	Autosomal recessive
ZDHHC9	Mental retardation, X-linked syndromic, Raymond type	X-linked
ZFYVE26	Spastic paraplegia 15, autosomal recessive	Autosomal recessive
ZNF711	Mental retardation, X-linked 97	X-linked

Is the Couples test right for me?

Couples Carrier Screening is ideal for heterosexual couples planning a pregnancy who are eligible for Medicare & want to get a basic understanding of their combined risk of having a baby with a serious genetic condition.

It may be our largest panel covered by Medicare, but that doesn't mean it's the most comprehensive, and it isn't right for everyone. If you are interested in knowing your individual carrier status, are doing the test solo, using a donor, aren't eligible for Medicare, have Ashkenazi Jewish ancestry, or simply want to do everything you can to understand your risk of passing a genetic disease to your child, Comprehensive Carrier Screening might be a better option for you. This is a more thorough test that identifies ~80% of individuals as carriers and ~1 in 35 couples as having a high risk result.

Explore comprehensive

What genes does the Couples test screen for?

Couples Carrier screens for 620+ inherited genetic diseases that affect children in Australia including:

CFTR — Cystic Fibrosis (CF)
SMN1 — Spinal Muscular Atrophy (SMA)
FMR1 — FragileX Syndrome
HEXA— Tay Sachs Disease

This test does not screen for some of the gene variants that are covered in our Comprehensive Carrier Screening test such as hearing and vision loss conditions, CAVD which can influence fertility, or the GBA gene associated with Gauchers disease, which is common in the Ashkenazi Jewish population.

What genes does the Couples test screen for?

What can I do with the Couples test results?

If you & your partner are both carriers of the same condition, then you may want to consider:

Prenatal testing to find out if your pregnancy is affected
Medicare funded programs to use IVF technologies to prevent passing on the condition
Other options which your genetic counsellor will explain in your free results appointment

What can I do with the Couples test results?

About the Australian lab

Your sample is processed NATA accredited medical-grade genomics laboratory in Victoria.

This means they meet high standards to obtain national certifications and submit themselves to regular inspections. It also means your results can be used to guide your pregnancy plans and be directly actioned at your doctor's office.

At-home sample collection kit

DNA analysis in a certified laboratory

Doctor reviewed test results

Consult with a genetic counsellor

What if I've already used my Medicare benefit?

If you’ve already accessed the Medicare benefit but would like to complete a more comprehensive test, we offer a Comprehensive Carrier Screening panel that includes over 720 conditions and is not linked to Medicare.

Can I order the medicare test excluding CF, SMA & FXS screening?

No, the testing panels are designed and available only as a unit, and we are unable to remove or exclude Cystic Fibrosis, Fragile X, or Spinal Muscular Atrophy from the test.

What happens to my sample once the test is completed?

Your saliva sample is destroyed after 30 days. In unusual cases when testing takes longer than 30 days, the specimen will be retained until the report is delivered.

What is the turnaround time for the couples test?

You'll receive your test kit 1 - 2 business days after you place your order. From the moment we receive your saliva sample, the turnaround time to get your results is 6-8 weeks.

What ongoing care is available once I have my test results?

Each test comes with a consult with a Eugene genetic counsellor to discuss your results and any options you want to consider. If you’d like, we’ll also provide specialist referrals to support your ongoing care or forward your results to your GP or specialist.

I don't have a family history of any of the conditions, is this still relevant for me?

80% of babies born with an inherited genetic condition had no family history of it. That’s why Eugene’s carrier screening is relevant when you are planning a pregnancy, regardless of your family background or history.

If you do have a personal or family history of a genetic condition it is important to inform Eugene and your fertility specialist as this may influence which test is recommended to you.

What are the differences between all the Eugene carrier screening options?

Core Carrier Screening is our most basic test, which screens for 3 genes - cystic fibrosis (CF), spinal muscular atrophy (SMA) and Fragile X. It's for people assigned female at birth and is covered by Medicare (male partners only get tested if their partner is found to be a carrier). 70% of at risk couples will be missed with this test because these diseases most commonly affect caucasians. If you have a different ethnic background or a family history with inherited conditions, a larger panel is a better option for you.

Couples Carrier Screening screens 620+ genes and is covered by Medicare. It's a bundle of Core Carrier Screening for the person assigned female at birth and an additional extended panel for the couple. It only provides one combined couples report so not suitable for people who need to know their individual carrier status, like individuals testing solo or using donors.

Comprehensive Carrier Screening is our most comprehensive option which screens for 780+ genes and is suitable for individuals, couples and donors as it provides an individual carrier status report as well as a combined couples report. 8 out of 10 people who do this test find out they are healthy carriers of at least 1 condition. It isn't covered by Medicare as it's only available at international labs. It's perfect for people who aren't eligible for Medicare, want to do the test solo, couples who want to know their individual risk status as well as their combined, or those who want to do everything they can to reduce their risk of having a baby with an inherited condition.

How often are people found to have a high risk for the couples test?

Approximately 1 in 50 couples (~2%) will find out that they have a high risk of having a child with one of the conditions on this test.

If you choose our Comprehensive test, you have more chance of identifying your risk with ~1 in 35 couples receiving a high risk result. It will also identify ~80% of individuals as a carrier through the additional individual risk status report.

Is the couples test covered by Medicare?

Yes it is partially covered by Medicare. Couples Carrier Screening includes the Core test for the person assigned female at birth, which is bulk billed by Medicare leaving an out of pocket cost of $949 for the couples extended panel.

Can I pay full price for the couples test if I'm not eligible for Medicare?

Unfortunately not. As this bundle includes a bulk billed Core test for the person assigned female at birth, Medicare eligibility is required. Our lab doesn't offer a non Medicare version of this test yet but as soon as they do, we will too.

Our Comprehensive Carrier Screening is available to you without Medicare and it's actually a more thorough test as it includes an individual carrier status report, as well as a combined couples report. The benefits of this is to understand what you personally carry so you can know how this might impact your health, use your results if you were to recouple, and share information with family members about what they may carry.

Is the couples test suitable for LGBTQ+ couples?

This test is designed for couples who were assigned female and male at birth. If you and your partner were assigned the same sex at birth, you can purchase two individual comprehensive tests.

How is my data stored and shared?

As a healthcare company, we comply with the most stringent local and international privacy and security regulations. We take incredible care to use technical, process and physical safeguards to secure your personal information and protect it against misuse, loss or alteration.

Finally, Eugene doesn’t share any of your data with anyone but you, the lab, and (with your express permission) your doctor.

Couples Carrier Screening

Medicare Eligibility

Core

Couples

Comprehensive 787

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Health Impact Categories

Is the Couples test right for me?

What genes does the Couples test screen for?

What can I do with the Couples test results?

About the Australian lab

What's included

Frequently Asked Questions

What if I've already used my Medicare benefit?

Can I order the medicare test excluding CF, SMA & FXS screening?

What happens to my sample once the test is completed?

What is the turnaround time for the couples test?

What ongoing care is available once I have my test results?

I don't have a family history of any of the conditions, is this still relevant for me?

What are the differences between all the Eugene carrier screening options?

How often are people found to have a high risk for the couples test?

Is the couples test covered by Medicare?

Can I pay full price for the couples test if I'm not eligible for Medicare?

Is the couples test suitable for LGBTQ+ couples?

How is my data stored and shared?

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Couples Carrier Screening

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