Conditions Screened

The GUARDIAN study screens for serious health conditions in newborns (Group 1). All of these conditions have medicines or interventions that prevent or lessen the symptoms of the condition. Not all of these conditions can be cured with medicine.  Early diagnosis of these conditions will help treatment give your baby the best chance to live a healthier life

List of Conditions Screened For in Group 1

Disease association Gene name
ABCD1-related adrenoleukodystrophy ABCD1
Methylmalonic aciduria and homocystinuria, cblJ type ABCD4
Isobutyryl-CoA dehydrogenase deficiency ACAD8
ACADM-related medium-chain acyl-CoA dehydrogenase deficiency ACADM
ACADS-related short-chain acyl-CoA dehydrogenase deficiency ACADS
2-methylbutyrylglycinuria ACADSB
ACADVL-related very long-chain acyl-CoA dehydrogenase deficiency ACADVL
ACAT1-related alpha-methylacetoacetic aciduria ACAT1
ACTG1-related nonsyndromic hearing loss ACTG1
ADA-related adenosine deaminase deficiency ADA
AGXT-related primary hyperoxaluria AGXT
AHCY-related S-adenosylhomocysteine hydrolase deficiency AHCY
AK2-related reticular dysgenesis AK2
ALDH4A1-related hyperprolinemia ALDH4A1
ALDH7A1-related pyridoxine-dependent epilepsy ALDH7A1
ALDOB-related hereditary fructose intolerance ALDOB
ALPL-related hypophosphatasia ALPL
ALPL-related hypophosphatasia ALPL
APOB-related hypercholesterolemia APOB
APOB-related hypobetalipoproteinemia APOB
APOB-related hypercholesterolemia APOB
APOB-related hypobetalipoproteinemia APOB
Adenine phosphoribosyltransferase deficiency APRT
AQP2-related nephrogenic diabetes insipidus AQP2
AQP2-related nephrogenic diabetes insipidus AQP2
ARG1-related arginase deficiency ARG1
ARSB-related mucopolysaccharidosis type 6 ARSB
ASL-related argininosuccinic aciduria ASL
ASS1-related argininosuccinate synthetase deficiency ASS1
ATP6V1B1-related renal tubular acidosis with hearing loss ATP6V1B1
ATP7A-related Menkes spectrum disorder ATP7A
ATP7A-related distal motor neuropathy ATP7A
ATP7B-related Wilson disease ATP7B
AUH-related 3-methylglutaconic aciduria AUH
AVPR2-related nephrogenic diabetes insipidus AVPR2
AVPR2-related nephrogenic syndrome of inappropriate antidiuresis AVPR2
BCKDHA-related maple syrup urine disease BCKDHA
BCKDHB-related maple syrup urine disease BCKDHB
BTD-related biotinidase deficiency 2 BTD
Homocystinuria, B6-responsive and nonresponsive types CBS
Immunodeficiency 19 CD3D
Immunodeficiency 18 CD3E
CFTR-related cystic fibrosis and congenital absence of the vas deferens CFTR
CPS1-related carbamoylphosphate synthetase I deficiency CPS1
CPT1A-related carnitine palmitoyltransferase 1A deficiency CPT1A
CPT2-related carnitine palmitoyltransferase deficiency CPT2
CTNS-related cystinosis CTNS
DBT-related maple syrup urine disease DBT
DCLRE1C-related immunodeficiency DCLRE1C
DUOX2-related hypothyroidism DUOX2
DUOXA2-related hypothyroidism DUOXA2
ETFA-related multiple acyl-CoA dehydrogenase deficiency ETFA
ETFB-related multiple acyl-CoA dehydrogenase deficiency ETFB
ETFDH-related multiple acyl-CoA dehydrogenase deficiency ETFDH
FAH-related tyrosinemia FAH
FGFR3-related skeletal dysplasia FGFR3
Bamforth-Lazarus syndrome FOXE1
G6PC1-related glycogen storage disease G6PC
G6PD-related glucose-6-phosphate dehydrogenase deficiency G6PD
GAA-related glycogen storage disease GAA
GALC-related Krabbe disease GALC
Galactose epimerase deficiency GALE
GALNS-related mucopolysaccharidosis type 4 GALNS
GALT-related galactosemia GALT
GAMT-related guanidinoacetate methyltransferase (GAMT) deficiency GAMT
GATM-related arginine:glycine amidinotransferase (AGAT) deficiency GATM
GCDH-related glutaryl-CoA dehydrogenase deficiency GCDH
GCH1-related dopa-responsive dystonia GCH1
GJB2-related sensorineural hearing loss GJB2
GLA-related Fabry disease GLA
Diabetes mellitus, neonatal, with congenital hypothyroidism GLIS3
GUSB-related mucopolysaccharidosis type 7 GUSB
HADH-related 3-hydroxyacyl-CoA dehydrogenase deficiency HADH
HADHA-related trifunctional protein deficiency HADHA
HADHA-related long chain hydroxyacyl-CoA dehydrogenase deficiency HADHA
HADHB-related mitochondrial trifunctional protein deficiency HADHB
HBB-related sickle cell disease HBB
HCFC1-methylmalonic acidemia and homocysteinemia, cblX type HCFC1
HIBCH-related 3-hydroxyisobutryl-CoA hydrolase deficiency HIBCH
HLCS-related holocarboxylase synthetase deficiency HLCS
HMGCL-related HMG-CoA lyase deficiency HMGCL
HMGCS2-related HMG-CoA synthase-2 deficiency HMGCS2
HPD-related tyrosinemia HPD
HSD17B4-related D-bifunctional protein deficiency HSD17B4
IDS-related mucopolysaccharidosis type 2 IDS
IDUA-related mucopolysaccharidosis type 1 IDUA
IL2RG-related immune dysregulation disorder IL2RG
IL7R-related immunodeficiency IL7R
IVD-related isovaleric acidemia IVD
SCID, autosomal recessive, T-negative/B-positive type JAK3
KCNH2-related long QT syndrome KCNH2
KCNH2-related short QT syndrome KCNH2
KCNQ1-related Jervell and Lange-Nielsen syndrome KCNQ1
KCNQ1-related arrhythmia KCNQ1
LDLR-related familial hypercholesterolemia LDLR
LIAS-related pyruvate dehydrogenase lipoic acid synthetase deficiency LIAS
LIG4 syndrome LIG4
LIPA-related cholesteryl ester storage disease LIPA
LMBRD1-related methylmalonic aciduria and homocystinuria, cblF type 2 LMBRD1
MAT1A-related methionine adenosyltransferase I/III deficiency MAT1A
MCCC1-related 3-methylcrotonyl-CoA carboxylase 1 deficiency MCCC1
MCCC2-related 3-methylcrotonyl-CoA carboxylase 2 deficiency MCCC2
MCEE-related methylmalonyl-CoA epimerase deficiency MCEE
MLYCD-related malonyl-CoA decarboxylase deficiency MLYCD
MMAA-related methylmalonic aciduria MMAA
MMAB-related methylmalonic aciduria, cblB type MMAB
MMACHC-related methylmalonic aciduria and homocystinuria, cblC type MMACHC
MMADHC-related homocystinuria, cblD type MMADHC
MMUT-related methylmalonic aciduria MMUT
MOCS1-related molybdenum cofactor deficiency MOCS1
MTHFR-related MTHFR deficiency MTHFR
MTR-related methylcobalamin deficiency, cblG type MTR
MTRR-related methionine synthase reductase deficiency, cbl E type MTRR
NAGS-related N-acetylglutamate synthase deficiency NAGS
Severe combined immunodeficiency with microcephaly, growth retardation and sensitivity to ionizing radiation NHEJ1
NKX2-1-related movement disorder NKX2-1
NKX2-5-related heart defect NKX2-5
NKX2-5-related congenital hypothyroidism NKX2-5
OAT-related gyrate atrophy of the choroid and retina OAT
OTC-related ornithine transcarbamylase deficiency OTC
Succinyl CoA:3-oxoacid CoA transferase deficiency OXCT1
PAH-related phenylketonuria PAH
PAX8-related hypothyroidism PAX8
PC-related pyruvate carboxylase deficiency PC
PCBD1-related BH4-deficient hyperphenylalaninemia PCBD1
PCCA-related propionic acidemia PCCA
PCCB-related propionic acidemia PCCB
PCSK9-related familial hypercholesterolemia PCSK9
PHEX-related hypophosphatemic rickets PHEX
Immunodeficiency due to purine nucleoside phosphorylase deficiency PNP
PNPO-related pyridoxamine 5′-phosphate oxidase deficiency PNPO
Methylmalonic aciduria and homocystinuria, cblC type, epigenic PRDX1
PRKDC-related immune dysregulation disorder PRKDC
PTS-related BH4-deficient hyperphenylalaninemia PTS
QDPR-related BH4-deficient hyperphenylalaninemia QDPR
RAG1-related immune dysregulation RAG1
RAG1-related immune dysregulation RAG2
RPE65-related retinal dystrophy RPE65
SLC22A5-related primary/systemic carnitine deficiency SLC22A5
SLC25A13-related citrullinemia SLC25A13
SLC25A15-related hyperornithinemia-hyperammonemia-homocitrullinuria syndrome SLC25A15
SLC25A20-related carnitine-acylcarnitine translocase deficiency SLC25A20
SLC26A4-related hearing loss SLC26A4
SLC2A1-related GLUT1 deficiency SLC2A1
SLC37A4-related glycogen storage disease 1 SLC37A4
Acrodermatitis enteropathica zinc-deficiency type 1 SLC39A4
SLC52A2-related riboflavin transporter deficiency SLC52A2
SLC52A3-related riboflavin transporter deficiency SLC52A3
SLC5A5-related hypothyroidism SLC5A5
SMN1-related spinal muscular atrophy SMN1
SPR-related sepiapterin reductase deficiency SPR
TAT-related tyrosinemia TAT
Transcobalamin II deficiency TCN2
TG-related hypothyroidism TG
TPO-related hypothyroidism TPO
TPP1-related ceroid lipofuscinosis TPP1
TSHR-related congenital hypothyroidism TSHR
WAS-related Wiskott-Aldrich syndrome WAS
WAS-related neutropenia WAS
Immunodeficiency 48 ZAP70

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

List of Conditions Screened For in Group 2

Disease association Gene name
ACBD5-related retinal dystrophy and leukodystrophy spectrum disorder ACBD5
ACOX1-related peroxisomal acyl-CoA oxidase deficiency ACOX1
ACOX1-related progressive myeloneuropathy with sensorineural hearing loss (AD) ACOX1
ACTB-Related Disorder ACTB
ACTB-related Baraitser-Winter syndrome ACTB
ACTG1-related Baraitser-Winter syndrome ACTG1
ACTL6B-related developmental and epileptic encephalopathy ACTL6B
ACTL6B-related neurodevelopmental disorder ACTL6B
ADNP-related neurodevelopmental disorder with multiple anomalies ADNP
ADSL-related adenylosuccinate lyase deficiency and epileptic encephalopathy ADSL
AHDC1-related neurodevelopmental disorder AHDC1
ALDH5A1-related succinic semialdehyde dehydrogenase deficiency ALDH5A1
AMT-related glycine encephalopathy AMT
ANKRD11-related KBG syndrome ANKRD11
ARID1B-related neurodevelopmental disorder ARID1B
ASH1L-related neurodevelopmental disorder with multiple anomalies ASH1L
ASXL3-related neurodevelopmental disorder with multiple anomalies ASXL3
AUTS2-related neurodevelopmental disorder AUTS2
BCL11A-related neurodevelopmental disorder with persistence of fetal hemoglobin BCL11A
CASK-related neurodevelopmental disorder with multiple anomalies 160 CASK
CDKL5-related developmental and epileptic encephalopathy CDKL5
CHAMP1-related neurodevelopmental disorder CHAMP1
CHD2-related developmental and epileptic encephalopathy CHD2
CHD3-related neurodevelopmental disorder CHD3
CHD7-related CHARGE spectrum disorder CHD7
CHD8-related neurodevelopmental disorder CHD8
CLPB-related caseinolytic peptidase B deficiency CLPB
CNOT3-related neurodevelopmental disorder CNOT3
CREBBP-related Rubinstein-Taybi syndrome CREBBP
CREBBP-related neurodevelopmental disorder with multiple anomalies CREBBP
CSDE1-related neurodevelopmental disorder with ocular anomalies CSDE1
CSNK2A1-related neurodevelopmental disorder CSNK2A1
CTBP1-related neurodevelopmental disorder CTBP1
CTCF-related neurodevelopmental disorder with multiple anomalies CTCF
DDX3X-related neurodevelopmental disorder DDX3X
DEAF1-related neurodevelopmental and movement disorder DEAF1
DEAF1-related neurodevelopmental disorder DEAF1
DHCR7-related Smith-Lemli-Opitz syndrome DHCR7
DHPS-related neurodevelopmental disorder DHPS
DLD-related dihydrolipoamide dehydrogenase deficiency DLD
3-methylglutaconic aciduria, type V DNAJC19
DYRK1A-related neurodevelopmental disorder DYRK1A
EBF3-related neurodevelopmental disorder with multiple anomalies EBF3
EHMT1-related Kleefstra syndrome EHMT1
ETHE1-related ethylmalonic encephalopathy ETHE1
FOXG1-related Rett spectrum disorder FOXG1
FOXP1-related neurodevelopmental disorder FOXP1
FOXP3-related immunodysregulation, polyendocrinopathy, and enteropathy FOXP3
GLDC-related glycine encephalopathy GLDC
Glycine N-methyltransferase deficiency GNMT
GRIN2B-related neurodevelopmental disorder GRIN2B
GRIN2B-related developmental and epileptic encephalopathy GRIN2B
HECW2-related neurodevelopmental disorder HECW2
HIVEP2-related neurodevelopmental disorder HIVEP2
HNRNPH2-related neurodevelopmental disorder with multiple anomalies HNRNPH2
HNRNPU-related developmental and epileptic encephalopathy HNRNPU
HSD17B10-related 17-beta-hydroxysteroid dehydrogenase deficiency HSD17B10
KAT6A-related neurodevelopmental disorder with multiple anomalies KAT6A
KIF1A-related neurodegenerative spectrum disorder KIF1A
KMT5B-related neurodevelopmental disorder KMT5B
MBD5-related neurodevelopmental disorder MBD5
MECP2-related Rett spectrum disorder MECP2
MED13-related neurodevelopmental disorder with multiple anomalies MED13
MED13L-related neurodevelopmental disorder with multiple anomalies MED13L
NFU1-related multiple mitochondrial dysfunctions syndrome NFU1
PACS1-related neurodevelopmental disorder with multiple anomalies PACS1
PEX1-related Zellweger spectrum disorder PEX1
PEX10-related Zellweger spectrum disorder PEX10
PEX12-related Zellweger spectrum disorder PEX12
PEX13-related Zellweger spectrum disorder PEX13
PEX14-related Zellweger spectrum disorder PEX14
PEX16-related Zellweger spectrum disorder PEX16
PEX19-related Zellweger spectrum disorder PEX19
PEX2-related Zellweger spectrum disorder PEX2
PEX26-related Zellweger spectrum disorder PEX26
PEX3-related Zellweger spectrum disorder PEX3
PEX5-related Zellweger spectrum disorder PEX5
PEX6-related Zellweger spectrum disorder PEX6
PHIP-related neurodevelopmental disorder with multiple anomalies PHIP
PPP2R5D-related neurodevelopmental disorder with multiple anomalies PPP2R5D
Hyperprolinemia, type I PRODH
SCN1A-related epilepsy SCN1A
SCN1A-related familial hemiplegic migraine SCN1A
SCN2A-related developmental and epileptic encephalopathy SCN2A
SCN2A-related epilepsy SCN2A
SCN8A-related neurodevelopmental and movement disorder SCN8A
SCN8A-related epilepsy SCN8A
SERAC1-related 3-methylglutaconic aciduria SERAC1
SETBP1-related neurodevelopmental disorder SETBP1
SETBP1-related Schinzel-Giedion syndrome SETBP1
SLC6A1-related neurodevelopmental disorder SLC6A1
Glycine encephalopathy with normal serum glycine SLC6A9
SLC9A6-related Christianson spectrum disorder SLC9A6
STXBP1-related neurodevelopmental disorder STXBP1
SUCLA2-related mitochondrial DNA depletion syndrome SUCLA2
SUCLG1-related mitochondrial DNA depletion syndrome SUCLG1
SYNGAP1-related neurodevelopmental disorder SYNGAP1
Barth syndrome TAZ
TRIO-related neurodevelopmental disorder TRIO
USP9X-related neurodevelopmental disorder with multiple anomalies USP9X


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, meaning there is a very low chance your baby has one of the conditions screened. A small number of babies (about 1 in 1000) will screen positive. If your baby screens positive, we will talk to you about the condition identified and our recommendations for follow up care.