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

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.