Conditions Screened

The GUARDIAN screen looks only at some genetic conditions. These conditions were specifically selected because they occur in childhood and there are things that you and your baby’s doctor can do to help to care for them. There are many other genetic conditions that are not included in this screen. Most health conditions that people develop in their lifetime are not included on this screen.

All of the GROUP 1 conditions have medicines or interventions that prevent or lessen the symptoms of the condition. Not all of these conditions can be cured with medicine, but early diagnosis and early treatment can help to give your baby the best chance to live a healthier life.

List of Conditions Screened For in Group 1

Gene	Disorder
ABCD1	ABCD1-related adrenoleukodystrophy
ABCD4	Methylmalonic aciduria and homocystinuria, cblJ type
ACAD8	Isobutyryl-CoA dehydrogenase deficiency
ACAD9	ACAD9 deficiency
ACADM	ACADM-related medium-chain acyl-CoA dehydrogenase deficiency
ACADS	ACADS-related short-chain acyl-CoA dehydrogenase deficiency
ACADSB	2-methylbutyrylglycinuria
ACADVL	ACADVL-related very long-chain acyl-CoA dehydrogenase deficiency
ACAT1	ACAT1-related alpha-methylacetoacetic aciduria
ACTG1	ACTG1-related nonsyndromic hearing loss
ADA	ADA-related adenosine deaminase deficiency
AGL	Glycogen Storage Disease III
AGXT	AGXT-related primary hyperoxaluria
AHCY	AHCY-related S-adenosylhomocysteine hydrolase deficiency
AICDA	Immunodeficiency with hyper-IgM, type 2
AK2	AK2-related reticular dysgenesis
AKR1D1	Bile acid synthesis defect, congenital, 2
ALDH4A1	ALDH4A1-related hyperprolinemia
ALDH7A1	ALDH7A1-related pyridoxine-dependent epilepsy
ALDOB	ALDOB-related hereditary fructose intolerance
ALPL	ALPL-related hypophosphatasia
ALPL	ALPL-related hypophosphatasia
AMN	Megaloblastic anemia-1, Norwegian type
APOB	APOB-related hypercholesterolemia
APOB	APOB-related hypobetalipoproteinemia
APOB	APOB-related hypercholesterolemia
APOB	APOB-related hypobetalipoproteinemia
APRT	Adenine phosphoribosyltransferase deficiency
AQP2	AQP2-related nephrogenic diabetes insipidus
AQP2	AQP2-related nephrogenic diabetes insipidus
ARG1	ARG1-related arginase deficiency
ARSA	Metachromatic leukodystrophy
ARSB	ARSB-related mucopolysaccharidosis type 6
ASL	ASL-related argininosuccinic aciduria
ASS1	ASS1-related argininosuccinate synthetase deficiency
ATP6V0A4	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss
ATP6V1B1	ATP6V1B1-related renal tubular acidosis with hearing loss
ATP7A	ATP7A-related Menkes spectrum disorder
ATP7A	ATP7A-related distal motor neuropathy
ATP7B	ATP7B-related Wilson disease
AUH	AUH-related 3-methylglutaconic aciduria
AVPR2	AVPR2-related nephrogenic diabetes insipidus
AVPR2	AVPR2-related nephrogenic syndrome of inappropriate antidiuresis
BCKDHA	BCKDHA-related maple syrup urine disease
BCKDHB	BCKDHB-related maple syrup urine disease
BLNK	Agammaglobulinemia 4
BSND	Bartter syndrome with sensorineural deafness
BTD	BTD-related biotinidase deficiency 2
BTK	Agammaglobulinemia, X-linked 1
C5	Complement component 5 deficiency
C6	Complement component 6 deficiency
C7	Complement component 7 deficiency
C8a	Complement component 8 deficiency, type I
C8b	Complement component 8 deficiency, type II
C9	Complement component 9 deficiency
CA2	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CA5A	Carbonic anhydrase Va deficiency, hyperammonemia due to; CA5AD
CARD11	Immunodeficiency 11
CBLIF	Intrinsic factor deficiency; IFD
CBS	Homocystinuria, B6-responsive and nonresponsive types
CD247	Immunodeficiency due to defect in CD3-zeta
CD27	Lymphoproliferative syndrome 2
CD3D	Immunodeficiency 19
CD3E	Immunodeficiency 18
CD3G	Immunodeficiency 17, CD3 gamma deficient
CD40	Immunodeficiency with hyper-IgM, type 3
CD40LG	Immunodeficiency, X-linked, with hyper-IgM
CD79A	Agammaglobulinemia 3
CD79B	Agammaglobulinemia 6
CEBPE	Specific Granule Deficiency
CFD	Complement factor D deficiency
CFP	Properdin deficiency, X linked
CFTR	CFTR-related cystic fibrosis and congenital absence of the vas deferens
CHAT	Congenital myasthenic syndrome
CHRNA1	Congenital myasthenic syndrome
CHRND	Congenital myasthenic syndrome
CHRNE	Congenital myasthenic syndrome
CIITA	Bare lymphocyte syndrome, type II, complementation group A
CLCN7	Osteopetrosis, autosomal dominant 2; osteopetrosis, autosomal recessive 4
CLCNKB	Bartter syndrome, type 3
COL13A1	Congenital myasthenic syndrome 19
COLQ	Congenital myasthenic syndrome
COQ6	Coenzyme Q10 deficiency, primary, 6
CORO1A	Immunodeficiency 8
CPS1	CPS1-related carbamoylphosphate synthetase I deficiency
CPT1A	CPT1A-related carnitine palmitoyltransferase 1A deficiency
CPT2	CPT2-related carnitine palmitoyltransferase deficiency
CSF3R	Neutrophilia, hereditary
CTNS	CTNS-related cystinosis
CTPS1	Immunodeficiency 24
CUBN	Megaloblastic anemia-1, Finnish type
CYBB	Chronic granulomatous disease
CYP27A1	Cerebrotendinous xanthomatosis
DBT	DBT-related maple syrup urine disease
DCLRE1C	DCLRE1C-related immunodeficiency
DDC	Aromatic L-amino acid decarboxylase deficiency
DGAT1	Diarrhea 7, protein-losing enteropathy type
DMD	Duchenne muscular dystrophy
DOCK2	Immunodeficiency 40 AR
DOCK8	Hyper-IgE recurrent infection syndrome, autosomal recessive
DOK7	Congenital myasthenic syndrome
DUOXA2	DUOXA2-related hypothyroidism
ELANE	Neutropenia, severe congenital 1; neutropenia, cyclic
ETFA	ETFA-related multiple acyl-CoA dehydrogenase deficiency
ETFB	ETFB-related multiple acyl-CoA dehydrogenase deficiency
ETFDH	ETFDH-related multiple acyl-CoA dehydrogenase deficiency
F13A1	Factor XIIIA deficiency
F13B	Factor XIIIB deficiency
F8	Hemophilia A
F9	Hemophilia B
FAH	FAH-related tyrosinemia
FBP1	Fructose bisphosphatase deficiency
FERMT3	Leukocyte adhesion deficiency, type III
FGA	Afibrinogenaemia
FGFR3	FGFR3-related skeletal dysplasia
FGG	Afibrinogenaemia
FOXA2	Combined pituitary hormone deficiency
FOXA2	Congenital Isolated Hyperinsulinism
FOXE1	Bamforth-Lazarus syndrome
FOXN1	Congenital alopecia with T-cell immunodeficiency
FUCA1	Fucosidosis
G6PC	G6PC1-related glycogen storage disease
G6PC3	Neutropaenia, congenital
G6PD	G6PD-related glucose-6-phosphate dehydrogenase deficiency
GAA	GAA-related glycogen storage disease
GALC	GALC-related Krabbe disease
GALE	Galactose epimerase deficiency
GALNS	GALNS-related mucopolysaccharidosis type 4
GALT	GALT-related galactosemia
GAMT	GAMT-related guanidinoacetate methyltransferase (GAMT) deficiency
GATM	GATM-related arginine:glycine amidinotransferase (AGAT) deficiency
GCDH	GCDH-related glutaryl-CoA dehydrogenase deficiency
GCH1	GCH1-related dopa-responsive dystonia
GGCX	Vitamin K-dependent coagulation defect
GLA	GLA-related Fabry disease
GLB1	Mucopolysaccharidosis type IVB (Morquio)
GLIS3	Diabetes mellitus, neonatal, with congenital hypothyroidism
GLRA1	Hyperekplexia, hereditary 1, autosomal dominant or recessive
GLRB	Hyperekplexia 2
GNMT	Glycine N-methyltransferase deficiency
GRHPR	Hyperoxaluria, primary, type II
GUSB	GUSB-related mucopolysaccharidosis type 7
GYS2	Glycogen storage disease 0
HADH	HADH-related 3-hydroxyacyl-CoA dehydrogenase deficiency
HADHA	HADHA-related trifunctional protein deficiency
HADHA	HADHA-related long chain hydroxyacyl-CoA dehydrogenase deficiency
HADHB	HADHB-related mitochondrial trifunctional protein deficiency
HAX1	Neutropenia, severe congenital, type III
HBB	HBB-related sickle cell disease
HCFC1	HCFC1-methylmalonic acidemia and homocysteinemia, cblX type
HIBCH	HIBCH-related 3-hydroxyisobutryl-CoA hydrolase deficiency
HLCS	HLCS-related holocarboxylase synthetase deficiency
HMGCL	HMGCL-related HMG-CoA lyase deficiency
HMGCS2	HMGCS2-related HMG-CoA synthase-2 deficiency
HPD	HPD-related tyrosinemia
HSD11B2	Apparent mineralocorticoid excess
HSD17B4	HSD17B4-related D-bifunctional protein deficiency
HSD3B7	3 beta-hydroxysteroid dehydrogenase deficiency
IDS	IDS-related mucopolysaccharidosis type 2
IDUA	IDUA-related mucopolysaccharidosis type 1
IFNGR1	Immunodeficiency 27B; immunodeficiency 27A
IFNGR2	Immunodeficiency 28
IKBKB	Immunodeficiency 15
IL12B	immunodeficiency 29
IL12RB1	Immunodeficiency 30
IL21R	Immunodeficiency, primary, autosomal recessive, IL21R-related
IL2RA	Immunodeficiency 41 with lymphoproliferation and autoimmunity
IL2RB	Immunodeficiency 63 with lymphoproliferation and autoimmunity; IMD63
IL2RG	IL2RG-related immune dysregulation disorder
IL6ST	Hyper-IgE recurrent infection syndrome 4B, autosomal recessive
IL7R	IL7R-related immunodeficiency
IRAK4	IRAK4 deficiency
IRF8	immunodeficiency 32B
ITGB2	Leukocyte adhesion deficiency, type I
ITK	Lymphoproliferative syndrome 1
IVD	IVD-related isovaleric acidemia
JAGN1	Neutropenia, severe congenital 6
JAK3	SCID, autosomal recessive, T-negative/B-positive type
KCNH2	KCNH2-related long QT syndrome
KCNH2	KCNH2-related short QT syndrome
KCNJ1	Bartter syndrome
KCNQ1	KCNQ1-related Jervell and Lange-Nielsen syndrome
KCNQ1	KCNQ1-related arrhythmia
LDLR	LDLR-related familial hypercholesterolemia
LEP	Leptin deficiency
LEPR	Leptin receptor deficiency
LHX3	Combined pituitary hormone deficiency-3
LHX4	Pituitary hormone deficiency, combined, 4; CPHD4
LIAS	LIAS-related pyruvate dehydrogenase lipoic acid synthetase deficiency
LIG1	Immunodeficiency 96
LIG4	LIG4 syndrome
LIPA	LIPA-related cholesteryl ester storage disease
LMBRD1	LMBRD1-related methylmalonic aciduria and homocystinuria, cblF type 2
MAN2B1	Mannosidosis, alpha-, types I and II
MAT1A	MAT1A-related methionine adenosyltransferase I/III deficiency
MC2R	Glucocorticoid deficiency 1
MCCC1	MCCC1-related 3-methylcrotonyl-CoA carboxylase 1 deficiency
MCCC2	MCCC2-related 3-methylcrotonyl-CoA carboxylase 2 deficiency
MCEE	MCEE-related methylmalonyl-CoA epimerase deficiency
MCM4	Immunodeficiency 54
MLYCD	MLYCD-related malonyl-CoA decarboxylase deficiency
MMAA	MMAA-related methylmalonic aciduria
MMAB	MMAB-related methylmalonic aciduria, cblB type
MMACHC	MMACHC-related methylmalonic aciduria and homocystinuria, cblC type
MMADHC	MMADHC-related homocystinuria, cblD type
MMUT	MMUT-related methylmalonic aciduria
MOCS1	MOCS1-related molybdenum cofactor deficiency
MPI	Congenital disorder of glycosylation 1b
MPL	Amegakaryocytic thrombocytopaenia, congenital
MRAP	Glucocorticoid deficiency 2; GCCD2
MTHFD1	Severe combined immunodeficiency AR
MTHFR	MTHFR-related MTHFR deficiency
MTR	MTR-related methylcobalamin deficiency, cblG type
MTRR	MTRR-related methionine synthase reductase deficiency, cbl E type
MTTP	Abetalipoproteinaemia
MUSK	Congenital myasthenic syndrome
MVK	Hyperimmunoglobulin D and periodic fever syndrome
MYD88	Immunodeficiency 68
MYSM1	Bone marrow failure syndrome 4
NAGS	NAGS-related N-acetylglutamate synthase deficiency
NCF2	Chronic granulomatous disease
NEUROG3	Diarrhea 4, malabsorptive, congenital
NFKBIA	Ectodermal dysplasia and immunodeficiency 2
NHEJ1	Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation
NKX2-1	NKX2-1-related movement disorder
NKX2-5	NKX2-5-related heart defect
NKX2-5	NKX2-5-related congenital hypothyroidism
NNT	Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency
NPC1	Niemann-Pick Disease, types C1 and D
NPC2	Niemann-Pick Disease, type C2
NPHS1	Congenital nephrotic syndrome, Finnish type
NR0B1	Congenital adrenal hypoplasia
NR3C2	Pseudohypoaldosteronism, type I, autosomal dominant
OAT	OAT-related gyrate atrophy of the choroid and retina
ORAI1	Immunodeficiency 9
OTC	OTC-related ornithine transcarbamylase deficiency
OTOF	OTOF-related hearing loss
OXCT1	Succinyl CoA:3-oxoacid CoA transferase deficiency
PAH	PAH-related phenylketonuria
PAX8	PAX8-related hypothyroidism
PC	PC-related pyruvate carboxylase deficiency
PCBD1	PCBD1-related BH4-deficient hyperphenylalaninemia
PCCA	PCCA-related propionic acidemia
PCCB	PCCB-related propionic acidemia
PCSK9	PCSK9-related familial hypercholesterolemia
PGM3	Immunodeficiency 23
PHEX	PHEX-related hypophosphatemic rickets
PHGDH	Phosphoglycerate dehydrogenase deficiency; PHGDHD
PHKB	Phosphorylase kinase deficiency
PHKG2	Liver Phosphorylase Kinase Deficiency / Glycogen Storage Disease IXC (GSD9C)
PLG	Plasminogen deficiency
PNP	Immunodeficiency due to purine nucleoside phosphorylase deficiency
PNPO	PNPO-related pyridoxamine 5′-phosphate oxidase deficiency
POU1F1	Combined pituitary hormone deficiency-1
PRDX1	Methylmalonic aciduria and homocystinuria, cblC type, epigenic
PRF1	Hemophagocytic lymphohistiocytosis, familial, 2
PRKDC	PRKDC-related immune dysregulation disorder
PROP1	Combined pituitary hormone deficiency-2
PTS	PTS-related BH4-deficient hyperphenylalaninemia
PYGL	Glycogen Storage Disease VI
QDPR	QDPR-related BH4-deficient hyperphenylalaninemia
RAC2	Neutrophil immunodeficiency syndrome
RAG1	RAG1-related immune dysregulation
RAG2	RAG1-related immune dysregulation
RAPSN	Congenital myasthenic syndrome
RB1	Retinoblastoma
RET	Multiple endocrine neoplasia IIA / Multiple endocrine neoplasia IIB
RFX5	Bare lymphocyte syndrome, type II
RFXANK	Bare lymphocyte syndrome, type II
RFXAP	Bare lymphocyte syndrome, type II
RPE65	RPE65-related retinal dystrophy
RPSA	Asplenia, congenital AD
SBDS	Shwachman-Bodian-Diamond syndrome
SH2D1A	Lymphoproliferative syndrome, X-linked
SI	Sucrase-isomaltase deficiency, congenital
SLC12A1	Bartter syndrome
SLC12A3	Gitelman syndrome
SLC22A5	SLC22A5-related primary/systemic carnitine deficiency
SLC25A13	SLC25A13-related citrullinemia
SLC25A15	SLC25A15-related hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
SLC25A20	SLC25A20-related carnitine-acylcarnitine translocase deficiency
SLC25A38	Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
SLC26A3	Chloride diarrhea, congenital, Finnish type
SLC26A4	SLC26A4-related hearing loss
SLC2A1	SLC2A1-related GLUT1 deficiency
SLC37A4	SLC37A4-related glycogen storage disease 1
SLC39A4	Acrodermatitis enteropathica zinc-deficiency type 1
SLC39A7	Agammaglobulinemia 9
SLC46A1	Folate malabsorption, hereditary
SLC52A2	SLC52A2-related riboflavin transporter deficiency
SLC52A3	SLC52A3-related riboflavin transporter deficiency
SLC5A1	Glucose/galactose malabsorption; GGM
SLC5A5	SLC5A5-related hypothyroidism
SLC6A5	Hyperekplexia 3
SLC6A8	Creatine deficiency syndrome, X-linked
SLC7A7	Lysinuric protein intolerance
SMN1	SMN1-related spinal muscular atrophy
SMPD1	Niemann-Pick disease, type A
SP110	Hepatic venoocclusive disease with immunodeficiency
SPR	SPR-related sepiapterin reductase deficiency
SRP54	Neutropenia, severe congenital, 8, autosomal dominant; SCN8
STAT1	Immunodeficiency 31A ; Immunodeficiency 3 1C; Immunodeficiency 31B
STAT3	Hyper-IgE recurrent infection syndrome
STIM1	Immunodeficiency 10
STK4	T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations
STX11	hemophagocytic lymphohistiocytosis, familial, 4
STXBP2	hemophagocytic lymphohistiocytosis, familial, 5
TAP1	Bare lymphocyte syndrome, type I
TAT	TAT-related tyrosinemia
TCN2	Transcobalamin II deficiency
TG	TG-related hypothyroidism
TNFRSF11A	Familial expansile osteolysis
TPO	TPO-related hypothyroidism
TPP1	TPP1-related ceroid lipofuscinosis
TSHR	TSHR-related congenital hypothyroidism
TTC7A	Immunodeficiency, combined, with intestinal atresias
TYK2	Immunodeficiency 35
UMPS	Orotic aciduria
UNC13D	Hemophagocytic lymphohistiocytosis, familial, 3
UNG	immunodeficiency with hyper-IgM, type 5
VDR	Vitamin D-dependent rickets
VPS45	Neutropenia, neutrophil dysfunction, bone marrow fibrosis, and nephromegaly
WAS	WAS-related Wiskott-Aldrich syndrome
WAS	WAS-related neutropenia
WIPF1	Wiskott-Aldrich syndrome 2
XIAP	Lymphoproliferative syndrome, X-linked 2
ZAP70	Immunodeficiency 48

Parents can also choose to have their baby screened for an additional 100 conditions (Group 2). There are no medicines to treat for these conditions yet. Medicines may be in development, although we don’t know how well they will work. Early diagnosis of these conditions can support you and your child with early intervention services including physical therapy, occupational therapy, and speech therapy. It may also allow your child to start treatment or interventions if or when they become available, as well as to be part of research studies investigating new treatments.

List of Conditions Screened For in Group 2

Gene name	Disease association
ACBD5	ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder
ACOX1	ACOX1-related peroxisomal acyl-CoA oxidase deficiency
ACOX1	ACOX1-related progressive myeloneuropathy with sensorineural hearing loss (AD)
ACTB	ACTB-Related Disorder
ACTB	ACTB-related Baraitser-Winter syndrome
ACTG1	ACTG1-related Baraitser-Winter syndrome
ACTL6B	ACTL6B-related developmental and epileptic encephalopathy
ACTL6B	ACTL6B-related neurodevelopmental disorder
ADAR	Aicardi-Goutieres syndrome 6
ADK	Hypermethioninemia due to adenosine kinase deficiency
ADNP	ADNP-related neurodevelopmental disorder with multiple anomalies
ADSL	ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy
AGA	Aspartylglucosaminuria
AHDC1	AHDC1-related neurodevelopmental disorder
ALDH5A1	ALDH5A1-related succinic semialdehyde dehydrogenase deficiency
AMT	AMT-related glycine encephalopathy
ANKRD11	ANKRD11-related KBG syndrome
ARID1B	ARID1B-related neurodevelopmental disorder
ASH1L	ASH1L-related neurodevelopmental disorder with multiple anomalies
ASXL3	ASXL3-related neurodevelopmental disorder with multiple anomalies
ATRX	Alpha-thalassemia/mental retardation syndrome
AUTS2	AUTS2-related neurodevelopmental disorder
BCKDK	Branched-chain keto acid dehydrogenase kinase deficiency
BCL11A	BCL11A-related neurodevelopmental disorder with persistence of fetal hemoglobin
BRAF	Cardiofaciocutaneous syndrome
CASK	CASK-related neurodevelopmental disorder with multiple anomalies 160
CDKL5	CDKL5-related developmental and epileptic encephalopathy
CHAMP1	CHAMP1-related neurodevelopmental disorder
CHD2	CHD2-related developmental and epileptic encephalopathy
CHD3	CHD3-related neurodevelopmental disorder
CHD7	CHD7-related CHARGE spectrum disorder
CHD8	CHD8-related neurodevelopmental disorder
CLPB	CLPB-related caseinolytic peptidase B deficiency
CNOT3	CNOT3-related neurodevelopmental disorder
CREBBP	CREBBP-related Rubinstein-Taybi syndrome
CREBBP	CREBBP-related neurodevelopmental disorder with multiple anomalies
CRLF1	Crisponi syndrome
CSDE1	CSDE1-related neurodevelopmental disorder with ocular anomalies
CSNK2A1	CSNK2A1-related neurodevelopmental disorder
CTBP1	CTBP1-related neurodevelopmental disorder
CTCF	CTCF-related neurodevelopmental disorder with multiple anomalies
CTNNB1	CTNNB1 syndrome
DDX3X	DDX3X-related neurodevelopmental disorder
DEAF1	DEAF1-related neurodevelopmental and movement disorder
DEAF1	DEAF1-related neurodevelopmental disorder
DHCR7	DHCR7-related Smith-Lemli-Opitz syndrome
DHPS	DHPS-related neurodevelopmental disorder
DLD	DLD-related dihydrolipoamide dehydrogenase deficiency
DNAJC19	3-methylglutaconic aciduria, type V
DNMT3B	Immunodeficiency-centromeric instability-facial anomalies syndrome 1
DYRK1A	DYRK1A-related neurodevelopmental disorder
EBF3	EBF3-related neurodevelopmental disorder with multiple anomalies
EHMT1	EHMT1-related Kleefstra syndrome
ETHE1	ETHE1-related ethylmalonic encephalopathy
FOXG1	FOXG1-related Rett spectrum disorder
FOXP1	FOXP1-related neurodevelopmental disorder
FOXP3	FOXP3-related immunodysregulation, polyendocrinopathy, and enteropathy
GLDC	GLDC-related glycine encephalopathy
GRIN2B	GRIN2B-related neurodevelopmental disorder
GRIN2B	GRIN2B-related developmental and epileptic encephalopathy
HECW2	HECW2-related neurodevelopmental disorder
HESX1	Septooptic dysplasia
HIVEP2	HIVEP2-related neurodevelopmental disorder
HNRNPH2	HNRNPH2-related neurodevelopmental disorder with multiple anomalies
HNRNPU	HNRNPU-related developmental and epileptic encephalopathy
HRAS	Costello syndrome
HSD17B10	HSD17B10-related 17-beta-hydroxysteroid dehydrogenase deficiency
KAT6A	KAT6A-related neurodevelopmental disorder with multiple anomalies
KDM6A	Kabuki syndrome 2
KIF1A	KIF1A-related neurodegenerative spectrum disorder
KMT2A	Wiedemann-Steiner syndrome
KMT2D	Kabuki syndrome 1
KMT5B	KMT5B-related neurodevelopmental disorder
KRAS	Noonan syndrome
MAP2K1	Cardiofaciocutaneous syndrome
MAP2K2	Cardiofaciocutaneous syndrome
MBD5	MBD5-related neurodevelopmental disorder
MECP2	MECP2-related Rett spectrum disorder
MED13	MED13-related neurodevelopmental disorder with multiple anomalies
MED13L	MED13L-related neurodevelopmental disorder with multiple anomalies
NAGLU	Mucopolysaccharidosis type IIIB (Sanfilippo B)
NBN	Nijmegen breakage syndrome
NFU1	NFU1-related multiple mitochondrial dysfunctions syndrome
NIPBL	Cornelia de Lange syndrome
NSD1	Sotos syndrome
PACS1	PACS1-related neurodevelopmental disorder with multiple anomalies
PEX1	PEX1-related Zellweger spectrum disorder
PEX10	PEX10-related Zellweger spectrum disorder
PEX12	PEX12-related Zellweger spectrum disorder
PEX13	PEX13-related Zellweger spectrum disorder
PEX14	PEX14-related Zellweger spectrum disorder
PEX16	PEX16-related Zellweger spectrum disorder
PEX19	PEX19-related Zellweger spectrum disorder
PEX2	PEX2-related Zellweger spectrum disorder
PEX26	PEX26-related Zellweger spectrum disorder
PEX3	PEX3-related Zellweger spectrum disorder
PEX5	PEX5-related Zellweger spectrum disorder
PEX6	PEX6-related Zellweger spectrum disorder
PGM1	Congenital disorder of glycosylation, type IT
PHIP	PHIP-related neurodevelopmental disorder with multiple anomalies
PLPBP	Epilepsy, early-onset, vitamin B6-dependent
POMGNT1	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
PPP2R5D	PPP2R5D-related neurodevelopmental disorder with multiple anomalies
PRODH	Hyperprolinemia, type I
RAB27A	Griscelli syndrome, type 2
RAI1	Smith-Magenis syndrome
RMRP	Anauxetic dysplasia 1, Cartilage-hair hypoplasia, Metaphyseal dysplasia without hypotrichosis
RNASEH2A	Aicardi-Goutieres syndrome 4
RNASEH2B	Aicardi-Goutieres syndrome 2
RNASEH2C	Aicardi-Goutieres syndrome 3
RNF168	RIDDLE syndrome
SCN1A	SCN1A-related epilepsy
SCN1A	SCN1A-related familial hemiplegic migraine
SCN2A	SCN2A-related developmental and epileptic encephalopathy
SCN2A	SCN2A-related epilepsy
SCN8A	SCN8A-related neurodevelopmental and movement disorder
SCN8A	SCN8A-related epilepsy
SERAC1	SERAC1-related 3-methylglutaconic aciduria
SETBP1	SETBP1-related neurodevelopmental disorder
SETBP1	SETBP1-related Schinzel-Giedion syndrome
SGSH	Mucopolysaccharidisis type IIIA (Sanfilippo A)
SLC18A2	Parkinsonism-dystonia, infantile, 2; PKDYS2
SLC39A8	Congenital disorder of glycosylation, type IIn
SLC6A1	SLC6A1-related neurodevelopmental disorder
SLC6A9	Glycine encephalopathy with normal serum glycine
SLC9A6	SLC9A6-related Christianson spectrum disorder
SPINK5	Netherton syndrome
STXBP1	STXBP1-related neurodevelopmental disorder
SUCLA2	SUCLA2-related mitochondrial DNA depletion syndrome
SUCLG1	SUCLG1-related mitochondrial DNA depletion syndrome
SYNGAP1	SYNGAP1-related neurodevelopmental disorder
TAZ	Barth syndrome
TCF4	Pitt Hopkins
TH	Tyrosine hydroxylase deficiency
TRIO	TRIO-related neurodevelopmental disorder
TRNT1	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
TSC1	Tuberous sclerosis-1
TSC2	Tuberous sclerosis-2
UBE3A	Angelman syndrome
USP9X	USP9X-related neurodevelopmental disorder with multiple anomalies
VPS13B	Cohen syndrome
WWOX	WOREE/SCAR12

We are currently screening for version 2 of our gene list. Version 1 of the gene list (V1) was used from the start of the study until February 29th, 2024. Version 1 of the gene list can be found here.

What Happens After The Test?

The GUARDIAN study team will contact you with the results of your baby’s screen, share the results with your baby’s pediatrician, and put the results in your baby’s medical record.

Most babies will screen negative. This means there is a very low chance that your baby has the conditions in this screening. However, a small number of babies (about 3-4 in 100) will screen positive. If your baby screens positive, we will talk to you about the condition identified, any confirmatory testing that is needed to diagnose the condition, and our recommendations for follow up care.