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.
Conditions Screened
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.
