What genetic conditions do we test for?

Eugene’s carrier tests only include serious and actionable conditions.

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.

Details for clinicians —

These tests include:

All conditions recommended by the Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), the American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomics (ACMG).
Medicare rebate available for eligible patients that require testing under Core Carrier Screening or Couples Carrier Screening.
Actionable results; we do not report on variants of unknown significance
Severe and prevalent conditions seen across all ethnicities
Reports can be issued for an individual and also together as a couple in a combined couples report.
Genetic counsellor and geneticist analysis, interpretation and support included with every test.

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

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.

Compare our carrier tests

Core

From $0

3 genes screened
2 recessive conditions
1 X-linked conditions
~1 in 20 (5%) chance that a female will have a positive result for CF, SMA or FXS.
1 in 240 couples will be at high risk
Individuals
1 test
Individual report
Medicare available
Free genetic counselling
Results ready within 4 weeks

Buy

Couples

$949

629 genes screened
559 recessive conditions
70 X-linked conditions
No individual carrier results will be reported outside of CF, SMA and FXS for females
1 in 50 (~ 2%) couples will receive a high risk result
For couples
2 tests, 1 report
Combined carrier status
Medicare available
Free genetic counselling
Free standard return shipping
Results in 6 - 8 weeks

Buy

Comprehensive

From $949

787 genes screened
714 recessive conditions
73 X-linked conditions
~1 in 35 couples will receive a high risk result
Individuals, couples, donors
2 tests
Combined couples report
Individual carrier status report
Free genetic counselling
Free express return shipping
Results ready within 4 weeks

Buy

Full list of conditions tested

* X-Linked Conditions

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

Couples Carrier Screening gene list