Search Gene Lists

ABCDEFGHIJKLMNOPQRSTUVWXYZ
Disorders Genes
A
11-beta-hydroxylase-deficient congenital adrenal hyperplasia
CYP11B1
NewbornDx™
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
CYP17A1
NewbornDx™
17-beta-hydroxysteroid dehydrogenase X deficiency (2-methyl-3-hydroxybutyric aciduria)
HSD17B10
NewbornDx™
2,4-dienoyl-CoA reductase deficiency
DECR1
NewbornDx™
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
HSD3B2
NewbornDx™
3-Hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
HMGCS2
NewbornDx™
3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency
HMGCL
NewbornDx™
3-hydroxyisobutryl-CoA hydrolase deficiency (Beta-hydroxyisobutyryl-CoA deacylase deficiency)
HIBCH
NewbornDx™
3-Methylcrotonyl-CoA carboxylase deficiency
MCCC1, MCCC2
NewbornDx™
3-Methylglutaconic aciduria
AUH, DNAJC19, OPA3
NewbornDx™
3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
SERAC1
NewbornDx™
5-oxoprolinase deficiency
OPLAH
NewbornDx™
6-Pyruvoyltetrahydropterin synthase deficiency
PTS
NewbornDx™
Achondrogenesis
TRIP11
NewbornDx™
Achondroplasia; Thanatophoric dysplasia; Craniosynostosis
FGFR3
NewbornDx™
FGFR3
NewbornDxHL™
Acyl-CoA dehydrogenase 9 deficiency
ACAD9
NewbornDx™
Adrenocorticotropic hormone deficiency
TBX19
NewbornDx™
Alagille syndrome
JAG1, NOTCH2
NewbornDx™
Aldolase A deficiency (Glycogen storage disease XII)
ALDOA
NewbornDx™
Alkaptonuria
HGD
NewbornDx™
Alpha-1-antitrypsin deficiency
SERPINA1
NewbornDx™
Alpha-ketoglutarate dehydrogenase deficiency
OGDH
NewbornDx™
Alpha-mannosidase
MAN2B1
NewbornDx™
Alpha-methylacetoacetic aciduria (Ketothiolase deficiency)
ACAT1
NewbornDx™
Alpha-thalassemia X-linked intellectual disability syndrome
ATRX
NewbornDx™
Alstrom syndrome
ALMS1
NewbornDx™
ALMS1
NewbornDxHL™
Amish infantile epilepsy syndrome
ST3GAL5
NewbornDx™
Amish lethal microcephaly
SLC25A19
NewbornDx™
Angelman syndrome
UBE3A
NewbornDx™
Aniridia
WT1
NewbornDx™
Argininemia
ARG1
NewbornDx™
Argininosuccinic aciduria
ASL
NewbornDx™
Aromatic L-amino acid decarboxylase deficiency
DDC
NewbornDx™
Aspartylglucosaminuria
AGA
NewbornDx™
Autosomal dominant hearing loss with dentinogenesis
DSPP
NewbornDx™
DSPP
NewbornDxHL™
Autosomal dominant hypocalcemia
GNA11
NewbornDx™
Autosomal dominant nonsyndromic deafness
CCDC50, CEACAM16, COCH, CRYM, DFNA5, DIABLO, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIR96, MYH14, MYO1A, MYO1C, MYO6, POU4F3, SLC17A8, TECTA, TMC1, TJP2, MYH9, MYO1F
NewbornDx™
CCDC50, CEACAM16, COCH, CRYM, DFNA5, DIABLO, DIAPH1, EYA4, GJB2, GJB3, GJB6, KCNQ4, MIR96, MYH14, MYO1A, MYO1C, MYO6, POU4F3, SLC17A8, TECTA, TMC1, TJP2, MYH9, MYO1F
NewbornDxHL™
Autosomal recessive nonsyndromic deafness
ATP2B2, CABP2, CLDN14, DFNB59, ESRRB, GIPC3, GJB2, GJB3, GJB6, GRHL2, GRXCR1, HGF, ILDR1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, OTOF, OTOG, OTOGL, PTPRQ, SERPINB6, SLC26A5, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR
NewbornDx™
ATP2B2, CABP2, CLDN14, DFNB59, ESRRB, GIPC3, GJB2, GJB3, GJB6, GRHL2, GRXCR1, HGF, ILDR1, LHFPL5, LOXHD1, LRTOMT, MARVELD2, MSRB3, MYO15A, MYO3A, OTOF, OTOG, OTOGL, PTPRQ, SERPINB6, SLC26A5, TECTA, TMC1, TMIE, TMPRSS3, TPRN, TRIOBP, TSPEAR
NewbornDxHL™
B
Bardet-Biedl syndrome
ARL6
NewbornDx™
Barth syndrome
TAZ
NewbornDx™
Benign familial neonatal epilepsy
KCNQ2, KCNQ3
NewbornDx™
Bernard-Soulier syndrome
GP1BA, GP9
NewbornDx™
Beta-Ureidopropionase deficiency
UPB1
NewbornDx™
Biotinidase deficiency
BTD
NewbornDx™
BTD
NewbornDxHL™
Branchiootorenal spectrum disorders
EYA1, SIX1, SIX5
NewbornDx™
EYA1, SIX1, SIX5
NewbornDxHL™
C
Campomelic dysplasia
SOX9
NewbornDx™
Canavan disease
ASPA
NewbornDx™
Carbamoylphosphate synthetase I deficiency
CPS1
NewbornDx™
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
COA5
NewbornDx™
Carnitine palmitoyltransferase IA deficiency
CPT1A
NewbornDx™
Carnitine palmitoyltransferase II deficiency
CPT2
NewbornDx™
Carnitine-acylcarnitine translocase deficiency
SLC25A20
NewbornDx™
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
RMRP
NewbornDx™
Charcot-Marie-Tooth disease
EGR2, MPZ, PMP22
NewbornDx™
CHARGE syndrome
CHD7
NewbornDx™
Choreoasthetosis, hypothyroidism, and neonatal respiratory distress
NKX2-1
NewbornDx™
Choroideremia
CHM
NewbornDx™
Christianson syndrome
SLC9A6
NewbornDx™
Chudley-McCullough syndrome
GPSM2
NewbornDx™
GPSM2
NewbornDxHL™
Citrullinemia
ASS1, SLC25A13
NewbornDx™
Coffin-Lowry syndrome
RPS6KA3
NewbornDx™
RPS6KA3
NewbornDxHL™
Combined D-2- and L-2-hydroxyglutaric aciduria
SLC25A1
NewbornDx™
Combined malonic and methylmalonic aciduria
ACSF3
NewbornDx™
Combined oxidative phosphorylation deficiency
AARS2, PNPT1
NewbornDx™
Combined pituitary hormone deficiency
HESX1, LHX3, LHX4, POU1F1, PROP1
NewbornDx™
LHX3
NewbornDxHL™
Congenital afibrinogenemia
FGA, FGB, FGG
NewbornDx™
Congenital anomalies of kidney and urinary tract
DSTYK, TRAP1
NewbornDx™
Congenital bile acid synthesis defect
AKR1D1
NewbornDx™
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND)
CCS
NewbornDx™
CCS
NewbornDxHL™
Congenital central hypoventilation syndrome
PHOX2B
NewbornDx™
Congenital deafness with labyrinthine aplasia microtia and microdontia
FGF3
NewbornDx™
FGF3
NewbornDxHL™
Congenital disorder of glycosylation
MPI, PMM2
NewbornDx™
Congenital disorder of glycosylation type Ia
PMM2
NewbornDx™
Congenital disorder of glycosylation type Ib
MPI
NewbornDx™
Congenital dyserythropoietic anemia
CDAN1, KLF1
NewbornDx™
Congenital erythropoietic porphyria
UROS
NewbornDx™
Congenital hypothyroidism, nongoitrous
NKX2-5, THRA, TSHB, TSHR, PAX8
NewbornDx™
Congenital lipoid adrenal hyperplasia
STAR
NewbornDx™
Congenital muscular dystrophy
LAMA2, POMT1, POMT2
NewbornDx™
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
FKTN
NewbornDx™
Congenital variant Rett syndrome
FOXG1
NewbornDx™
Cornelia de Lange syndrome
NIPBL
NewbornDx™
Corticosterone methyloxidase deficiency
CYP11B2
NewbornDx™
Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Pfeiffer syndrome; Apert syndrome
FGFR2
NewbornDx™
Cyclic neutropenia; Congenital severe neutropenia
ELANE
NewbornDx™
Cystic fibrosis
CFTR
NewbornDx™
Cystinosis; Nephropathic cystinosis; Non-nephropathic ocular cystinosis
CTNS
NewbornDx™
D
D-2-hydroxyglutaric aciduria 1
D2HGDH
NewbornDx™
D-bifunctional protein deficiency
HSD17B4
NewbornDx™
HSD17B4
NewbornDxHL™
D-Glyceric aciduria
GLYCTK
NewbornDx™
Deafness-dystonia-optic neuronopathy syndrome
TIMM8A
NewbornDx™
TIMM8A
NewbornDxHL™
Diamond-Blackfan anemia
RPS19
NewbornDx™
Diastrophic dysplasia; Atelosteogenesis type II; Achondrogenesis type 1B; Multiple epiphyseal dysplasia
SLC26A2
NewbornDx™
Dihydrolipoamide dehydrogenase deficiency
DLD
NewbornDx™
Dilated cardiomyopathy
PSEN1
NewbornDx™
Distal renal tubular acidosis with progressive nerve deafness
ATP6V1B1
NewbornDx™
ATP6V1B1
NewbornDxHL™
Dopa-responsive dystonia due to sepiapterin reductase deficiency
SPR
NewbornDx™
Dubin-Johnson syndrome
ABCC2
NewbornDx™
E
Early infantile epileptic encephalopathy
CDKL5, SPTAN1, STXBP1
NewbornDx™
Ehlers-Danlos
COL1A1, COL1A2, PLOD1
NewbornDx™
Elliptocytosis
SPTB
NewbornDx™
Ellis-van Creveld syndrome
EVC, EVC2
NewbornDx™
Epidermolysis bullosa
COL17A1, COL7A1, ITGA6, ITGB4, KRT5, LAMA3, LAMB3, LAMC2, PLEC
NewbornDx™
Epimerase Deficiency Galactosemia
GALE
NewbornDx™
Ethylmalonic encephalopathy
ETHE1
NewbornDx™
F
Fabry disease
GLA
NewbornDx™
Factor IX deficiency; Hemophilia B
F9
NewbornDx™
Factor V deficiency; Thrombophilia due to activated protein C resistance
F5
NewbornDx™
Factor VIII deficiency; Hemophilia A
F8
NewbornDx™
Factor X deficiency
F10
NewbornDx™
Factor XI deficiency
F11
NewbornDx™
Factor XIII subunit A deficiency
F13A1
NewbornDx™
Familial hypocalciuric hypercalcemia
AP2S1, CASR, GNA11
NewbornDx™
Familial thrombotic thrombocytopenia purpura
ADAMTS13
NewbornDx™
Fanconi anemia
FANCA, FANCB, FANCC, BRCA2, FANCD2
NewbornDx™
Feingold syndrome
MYCN
NewbornDx™
Fraser syndrome
FRAS1
NewbornDx™
Fructose 1,6 bisphosphatase deficiency
FBP1
NewbornDx™
Fucosidosis
FUCA1
NewbornDx™
G
GABA-transaminase deficiency
ABAT
NewbornDx™
Galactokinase deficiency
GALK1
NewbornDx™
Galactosemia
GALT
NewbornDx™
Generalized thyrotropin-releasing hormone resistance
TRHR
NewbornDx™
Glanzmann's thrombasthenia; Autosomal dominant platelet-type bleeding disorder
ITGA2B, ITGB3
NewbornDx™
Glucose transporter type 1 deficiency syndrome
SLC2A1
NewbornDx™
Glucose-6-phosphate dehydrogenase deficiency
G6PD
NewbornDx™
Glutaric acidemia type II
ETFA, ETFB, ETFDH
NewbornDx™
Glutaric aciduria
C7orf10, GCDH
NewbornDx™
Glutathione synthetase deficiency
GSS
NewbornDx™
Glycerol kinase deficiency
GK
NewbornDx™
Glycine N-methyltransferase deficiency
GNMT
NewbornDx™
Glycogen storage disease of heart
PRKAG2
NewbornDx™
Glycogen storage disease type 0, Liver
GYS2
NewbornDx™
Glycogen storage disease type 1 (glucose-6-phosphate transport defect)
SLC37A4
NewbornDx™
Glycogen storage disease type II (Pompe disease)
GAA
NewbornDx™
Glycogen storage disease type IIIa, IIIb
AGL
NewbornDx™
Glycogen storage disease type IV
GBE1
NewbornDx™
Growth retardation with deafness and mental retardation due to IGF1 deficiency
IGF1
NewbornDx™
IGF1
NewbornDxHL™
Guanidinoacetate methyltransferase deficiency
GAMT
NewbornDx™
H
Hereditary angioedema; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
SERPING1
NewbornDx™
Hereditary antithrombin deficiency; Hereditary antithrombin deficiency type I and II
SERPINC1
NewbornDx™
Hereditary folate malabsorption
SLC46A1
NewbornDx™
Hereditary Fructose Intolerance
ALDOB
NewbornDx™
Hereditary pancreatitis
CTRC, SPINK1
NewbornDx™
Hereditary sensory and autonomic neuropathy; Pseudohypoaldosteronism
WNK1
NewbornDx™
Holocarboxylase synthetase deficiency
HLCS
NewbornDx™
Holt-Oram syndrome
TBX5
NewbornDx™
Homocystinuria
CBS, MTHFR
NewbornDx™
Homocystinuria-megaloblastic anemia
MTR, MTRR
NewbornDx™
Hyperbilirubinemia, rotor type
SLCO1B1, SLCO1B3
NewbornDx™
Hyperinsulinism
ABCC8, GCK, HADH, INSR, KCNJ11, SLC16A1, UCP2, YY1
NewbornDx™
Hyperlipoproteinemia
APOC2
NewbornDx™
Hyperlysinemia
AASS
NewbornDx™
Hypermethioninemia
ADK, AHCY, MAT1A
NewbornDx™
Hyperphenylalaninemia, BH4-deficient
GCH1, PCBD1, QDPR
NewbornDx™
Hyperprolinemia, Type I
PRODH
NewbornDx™
Hypoinsulinemic hypoglycemia with hemihypertrophy
AKT2
NewbornDx™
Hypoparathyroidism, sensorineural deafness, and renal disease
GATA3
NewbornDx™
GATA3
NewbornDxHL™
Hypophosphatasia
ALPL
NewbornDx™
I
Ichthyosis
ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, TGM1
NewbornDx™
Immunodeficiency
LCK
NewbornDx™
Immunodeficiency due to purine nucleoside phosphorylase deficiency
PNP
NewbornDx™
Infantile transient liver failure
TRMU
NewbornDx™
Intellectual disability and microcephaly with pontine and cerebellar hypoplasia
CASK
NewbornDx™
Interleukin 2 receptor alpha chain deficiency
IL2RA
NewbornDx™
Isobutyryl-CoA dehydrogenase deficiency
ACAD8
NewbornDx™
Isovaleric acidemia
IVD
NewbornDx™
IVIC syndrome; Duane-radial ray syndrome
SALL4
NewbornDx™
SALL4
NewbornDxHL™
J
Jervell and Lange-Nielsen syndrome
KCNE1, KCNQ1
NewbornDx™
KCNE1, KCNQ1
NewbornDxHL™
Joubert syndrome
CEP290
NewbornDx™
K
Kabuki syndrome
KDM6A, KMT2D
NewbornDx™
Krabbe disease
GALC
NewbornDx™
L
L-Arginine:Glycine amidinotransferase deficiency
GATM
NewbornDx™
Legius syndrome
SPRED1
NewbornDx™
Leigh syndrome due to mitochondrial complex I deficiency
FOXRED1, NDUFA2, NDUFA9
NewbornDx™
Leigh syndrome, French-Canadian Type
LRPPRC
NewbornDx™
Lesch-Nyhan syndrome
HPRT1
NewbornDx™
Lysinuric protein intolerance
SLC7A7
NewbornDx™
M
Malonyl-CoA decarboxylase deficiency
MLYCD
NewbornDx™
Maple syrup urine disease
BCKDHA, BCKDHB, DBT, DLD, PPM1K
NewbornDx™
Marfan syndrome
FBN1
NewbornDx™
Maturity-onset diabetes of the young
HNF1A, HNF4A, PDX1
NewbornDx™
McCune-Albright syndrome
GNAS
NewbornDx™
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6
MKKS
NewbornDx™
Medium chain acyl-CoA dehydrogenase deficiency
ACADM
NewbornDx™
Menkes disease
ATP7A
NewbornDx™
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
MEF2C
NewbornDx™
Metabolism of catechol drugs
COMT
NewbornDx™
Metabolism of opioids
OPRM1
NewbornDx™
Metachromatic leukodystrophy (arylsulfatase A deficiency)
ARSA, PSAP
NewbornDx™
Methylmalonic aciduria
MMAA, MMAB, MUT
NewbornDx™
Methylmalonic aciduria and homocystinuria
ABCD4, LMBRD1, MMACHC, MMADHC
NewbornDx™
Mevalonic aciduria
MVK
NewbornDx™
Microcephalic osteodysplastic primordial dwarfism
PCNT
NewbornDx™
Microcephaly, epilepsy, and diabetes syndrome
IER3IP1
NewbornDx™
Microphthalmia
NAA10, SOX2
NewbornDx™
SOX2
NewbornDxHL™
Mitochondrial complex I deficiency
NDUFAF5, NDUFA11, NDUFS2, NDUFS4, NDUFV2
NewbornDx™
Mitochondrial complex II deficiency
SDHAF1
NewbornDx™
Mitochondrial complex III deficiency
UQCC2, UQCC3, UQCRC2, BCS1L
NewbornDx™
BCS1L
NewbornDxHL™
Mitochondrial complex IV deficiency
COX15, PET100
NewbornDx™
Mitochondrial DNA depletion syndrome
POLG, SUCLA2, SUCLG1
NewbornDx™
Mitochondrial nonsyndromic deafness
MT-RNR1, MT-TS1
NewbornDx™
MT-RNR1, MT-TS1
NewbornDxHL™
Mitochondrial pyruvate carrier deficiency
MPC1
NewbornDx™
Molybdenum cofactor deficiency A
GPHN, MOCS1, MOCS2
NewbornDx™
Mowat-Wilson syndrome
ZEB2
NewbornDx™
Mucolipidosis II, III alpha/beta
GNPTAB
NewbornDx™
Mucopolysaccharidosis Type IV
GALNS, GLB1
NewbornDx™
Mucopolysaccharidosis Type VI (Maroteaux-Lamy)
ARSB
NewbornDx™
Mucopolysaccharidosis Type VII
GUSB
NewbornDx™
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (Wolcott-Rallison syndrome)
EIF2AK3
NewbornDx™
Multiple mitochondrial dysfunctions syndrome 1
NFU1
NewbornDx™
Multiple sulfatase deficiency
SUMF1
NewbornDx™
Myoclonic-atonic epilepsy
SLC6A1
NewbornDx™
Myotonic dystrophy
DMPK
NewbornDx™
N
N-Acetylglutamate synthase deficiency
NAGS
NewbornDx™
Natural killer cell and glucocorticoid deficiency with DNA repair defect
MCM4
NewbornDx™
Nemaline myopathy
ACTA1
NewbornDx™
Neonatal severe encephalopathy; Rett syndrome
MECP2
NewbornDx™
Neonatal severe hyperparathyroidism
CASR
NewbornDx™
Neu-Laxova syndrome
PHGDH, PSAT1
NewbornDx™
Neuroblastic tumor susceptibility
ALK
NewbornDx™
Neuronal ceroid lipofuscinosis
CTSD
NewbornDx™
Niemann-Pick disease
NPC1, NPC2, SMPD1
NewbornDx™
Non-ketotic hyperglycinemia (glycine encephalopathy)
AMT, GLDC
NewbornDx™
O
Optic nerve hypoplasia
SOX2
NewbornDx™
SOX2
NewbornDxHL™
Ornithine aminotransferase deficiency
OAT
NewbornDx™
Ornithine transcarbamylase deficiency
OTC
NewbornDx™
Orotic aciduria
UMPS
NewbornDx™
Osteogenesis imperfecta
COL1A1, COL1A2, CRTAP, LEPRE1
NewbornDx™
P
Pendred syndrome
FOXI1, KCNJ10, SLC26A4
NewbornDx™
FOXI1, KCNJ10, SLC26A4
NewbornDxHL™
Permanent neonatal diabetes mellitus
ABCC8, KCNJ11, INS, PTF1A
NewbornDx™
Perrault syndrome 3
CLPP
NewbornDx™
CLPP
NewbornDxHL™
Phenylketonuria
PAH
NewbornDx™
Pheochromocytoma
RET
NewbornDx™
Phosphoenolpyruvate carboxykinase-1 deficiency, cytosolic
PCK1
NewbornDx™
Phosphoserine phosphatase deficiency
PSPH
NewbornDx™
Pitt-Hopkins syndrome
TCF4
NewbornDx™
Pleuropulmonary blastoma
DICER1
NewbornDx™
Polycystic kidney disease
PKD2, PKHD1
NewbornDx™
Prader-Willi syndrome
NDN, SNRPN
NewbornDx™
Primary autosomal recessive microcephaly 5
ASPM, CDK5RAP2, CENPJ, CEP152, MCPH1, STIL, WDR62
NewbornDx™
Primary ciliary dyskinesia
DNAH5, DNAH11, DNAI1
NewbornDx™
Primary hyperoxaluria, type 1
AGXT
NewbornDx™
Progressive external ophthalmoplegia with mitochondrial DNA deletions
DNA2
NewbornDx™
Progressive intrahepatic cholestasis
ATP8B1
NewbornDx™
Progressive myoclonic epilepsy (Lafora Disease)
CSTB, EPM2A, NHLRC1
NewbornDx™
Prolidase deficiency
PEPD
NewbornDx™
Proopiomelanocortin deficiency
POMC
NewbornDx™
Propionic acidemia
PCCA, PCCB
NewbornDx™
Pseudoachondroplasia; Epiphyseal dysplasia, multiple 1
COMP
NewbornDx™
Pseudoneonatal adrenoleukodystrophy (peroxisomal acyl-CoA oxidase deficiency)
ACOX1
NewbornDx™
Pulmonary surfactant dysfunction
ABCA3, ACADL, SFTPB, SFTPC, SFTPD
NewbornDx™
Pyridoxamine 5-prime-phosphate oxidase deficiency
PNPO
NewbornDx™
Pyridoxine-dependent epilepsy
ALDH7A1
NewbornDx™
Pyruvate carboxylase deficiency
PC
NewbornDx™
Pyruvate dehydrogenase deficiency
DLAT, LIAS, PDHA1, PDHB, PDHX, PDP1
NewbornDx™
Pyruvate kinase deficiency
PKLR
NewbornDx™
R
RASopathy (Noonan, Costello, cardiofaciocutaneous)
BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RAF1, SHOC2, SOS1
NewbornDx™
Renal coloboma syndrome; Renal hypodysplasia
PAX2
NewbornDx™
Renal Cysts and Diabetes syndrome
HNF1B
NewbornDx™
Resistance to IGF1
IGF1R
NewbornDx™
Retinoblastoma
RB1
NewbornDx™
Riboflavin deficiency
SLC52A1
NewbornDx™
S
Sandhoff Disease
HEXB
NewbornDx™
Seckel syndrome
ATR, RBBP8
NewbornDx™
Sensorineural deafness with mild renal dysfunction
BSND
NewbornDx™
BSND
NewbornDxHL™
Severe combined immunodeficiency
ADA, CD3D, CD3E, DCLRE1C, IL2RG, IL7R, JAK3, LIG4, PTPRC, RAG1, RAG2, ZAP70
NewbornDx™
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to Ionizing radiation
NHEJ1
NewbornDx™
Severe myoclonic epilepsy in infancy
SCN1A
NewbornDx™
Short chain acyl-CoA dehydrogenase deficiency
ACADS
NewbornDx™
Short/Branched chain acyl-CoA dehydrogenase deficiency (2-methylbutyrylglycinuria)
ACADSB
NewbornDx™
Shwachman-Diamond syndrome
SBDS
NewbornDx™
Sialidosis type I, type II
NEU1
NewbornDx™
Sialuria; Inclusion body myopathy
GNE
NewbornDx™
Sickle cell disease
HBB
NewbornDx™
Simpson-Golabi-Behmel syndrome
GPC3
NewbornDx™
Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities
CACNA1D
NewbornDx™
CACNA1D
NewbornDxHL™
Sjogren-Larsson syndrome
ALDH3A2
NewbornDx™
Smith-Lemli-Opitz syndrome
DHCR7
NewbornDx™
Sotos syndrome; Weaver syndrome
NSD1
NewbornDx™
Spherocytosis
ANK1, SPTA1, SLC4A1, EPB42
NewbornDx™
Staphylococcus aureus susceptibility
DEFB1
NewbornDx™
Stickler syndrome
COL11A2
NewbornDx™
COL11A2, COL11A1
NewbornDxHL™
Succinyl-CoA:3-oxoacid CoA transferase deficiency
OXCT1
NewbornDx™
Sulfite oxidase deficiency (sulfocysteinuria)
SUOX
NewbornDx™
Systemic primary carnitine deficiency
SLC22A5
NewbornDx™
T
Tay-Sachs Disease; Hexosaminidase A deficiency
HEXA
NewbornDx™
Thrombocytopenia-absent radius syndrome
RBM8A
NewbornDx™
Thrombophilia due to protein S deficiency
PROS1
NewbornDx™
Thrombophilia due to thrombin defect
F2
NewbornDx™
Thyroid dyshormonogenesis (congenital hypothyroidism)
DUOXA2, DUOX2, TG, TPO, SLC5A5
NewbornDx™
Timothy syndrome
CACNA1C
NewbornDx™
Townes-Brocks syndrome
SALL1
NewbornDx™
Transcobalamin II deficiency
TCN2
NewbornDx™
Transient familial neonatal hyperbilirubinemia
UGT1A1
NewbornDx™
Trifunctional protein deficiency
HADHA, HADHB
NewbornDx™
Tuberous sclerosis
TSC1, TSC2
NewbornDx™
Tyrosinemia
FAH, HPD, TAT
NewbornDx™
U
Usher syndrome
CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
NewbornDx™
CDH23, CIB2, CLRN1, DFNB31, GPR98, HARS, MYO7A, PCDH15, PDZD7, USH1C, USH1G, USH2A
NewbornDxHL™
V
Variation in Skin/hair/eye pigmentation,1
ASIP
NewbornDx™
Very long chain acyl-CoA dehydrogenase deficiency
ACADVL
NewbornDx™
W
Waardenburg syndrome
EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10
NewbornDx™
EDNRB, EDN3, MITF, PAX3, SNAI2, SOX10
NewbornDxHL™
Warburg micro syndrome
RAB3GAP1, RAB3GAP2, RAB18
NewbornDx™
Wilms tumor
H19, KCNQ10T1, WT1
NewbornDx™
Wilson disease
ATP7B
NewbornDx™
Wiskott-Aldrich syndrome; X-linked thrombocytopenia
WAS
NewbornDx™
Wolfram syndrome
WFS1
NewbornDx™
WFS1
NewbornDxHL™
Wolman Disease; Lysosomal acid lipase deficiency
LIPA
NewbornDx™
X
X-linked adrenal hypoplasia congenita
NR0B1
NewbornDx™
X-linked anemia with/without neutropenia and/or platelet abnormalities; X-linked thrombocytopenia with or without dyserythropoietic anemia
GATA1
NewbornDx™
X-linked nonsyndromic deafness
POU3F4, PRPS1, SMPX
NewbornDx™
POU3F4, PRPS1, SMPX
NewbornDxHL™
X-linked sideroblastic anemia; X-linked protoporphyria
ALAS2
NewbornDx™
ABCDEFGHIJKLMNOPQRSTUVWXYZ
Genes Disorders
A
AARS2
Combined oxidative phosphorylation deficiency
NewbornDx™
AASS
Hyperlysinemia
NewbornDx™
ABAT
GABA-transaminase deficiency
NewbornDx™
ABCA12
Ichthyosis
NewbornDx™
ABCA3
Pulmonary surfactant dysfunction
NewbornDx™
ABCC2
Dubin-Johnson syndrome
NewbornDx™
ABCC8
Hyperinsulinism, Permanent neonatal diabetes mellitus
NewbornDx™
ABCD4
Methylmalonic aciduria and homocystinuria
NewbornDx™
ACAD8
Isobutyryl-CoA dehydrogenase deficiency
NewbornDx™
ACAD9
Acyl-CoA dehydrogenase 9 deficiency
NewbornDx™
ACADL
Pulmonary surfactant dysfunction
NewbornDx™
ACADM
Medium chain acyl-CoA dehydrogenase deficiency
NewbornDx™
ACADS
Short chain acyl-CoA dehydrogenase deficiency
NewbornDx™
ACADSB
Short/Branched chain acyl-CoA dehydrogenase deficiency (2-methylbutyrylglycinuria)
NewbornDx™
ACADVL
Very long chain acyl-CoA dehydrogenase deficiency
NewbornDx™
ACAT1
Alpha-methylacetoacetic aciduria (Ketothiolase deficiency)
NewbornDx™
ACOX1
Pseudoneonatal adrenoleukodystrophy (peroxisomal acyl-CoA oxidase deficiency)
NewbornDx™
ACSF3
Combined malonic and methylmalonic aciduria
NewbornDx™
ACTA1
Nemaline myopathy
NewbornDx™
ADA
Severe combined immunodeficiency
NewbornDx™
ADAMTS13
Familial thrombotic thrombocytopenia purpura
NewbornDx™
ADK
Hypermethioninemia
NewbornDx™
AGA
Aspartylglucosaminuria
NewbornDx™
AGL
Glycogen storage disease type IIIa, IIIb
NewbornDx™
AGXT
Primary hyperoxaluria, type 1
NewbornDx™
AHCY
Hypermethioninemia
NewbornDx™
AKR1D1
Congenital bile acid synthesis defect
NewbornDx™
AKT2
Hypoinsulinemic hypoglycemia with hemihypertrophy
NewbornDx™
ALAS2
X-linked sideroblastic anemia; X-linked protoporphyria
NewbornDx™
ALDH3A2
Sjogren-Larsson syndrome
NewbornDx™
ALDH7A1
Pyridoxine-dependent epilepsy
NewbornDx™
ALDOA
Aldolase A deficiency (Glycogen storage disease XII)
NewbornDx™
ALDOB
Hereditary Fructose Intolerance
NewbornDx™
ALK
Neuroblastic tumor susceptibility
NewbornDx™
ALMS1
Alstrom syndrome
NewbornDx™
Alstrom syndrome
NewbornDxHL™
ALOX12B
Ichthyosis
NewbornDx™
ALOXE3
Ichthyosis
NewbornDx™
ALPL
Hypophosphatasia
NewbornDx™
AMT
Non-ketotic hyperglycinemia (glycine encephalopathy)
NewbornDx™
ANK1
Spherocytosis
NewbornDx™
AP2S1
Familial hypocalciuric hypercalcemia
NewbornDx™
APOC2
Hyperlipoproteinemia
NewbornDx™
ARG1
Argininemia
NewbornDx™
ARL6
Bardet-Biedl syndrome
NewbornDx™
ARSA
Metachromatic leukodystrophy (arylsulfatase A deficiency)
NewbornDx™
ARSB
Mucopolysaccharidosis Type VI (Maroteaux-Lamy)
NewbornDx™
ASIP
Variation in Skin/hair/eye pigmentation,1
NewbornDx™
ASL
Argininosuccinic aciduria
NewbornDx™
ASPA
Canavan disease
NewbornDx™
ASPM
Primary autosomal recessive microcephaly 5
NewbornDx™
ASS1
Citrullinemia
NewbornDx™
ATP2B2
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
ATP6V1B1
Distal renal tubular acidosis with progressive nerve deafness
NewbornDx™
Distal renal tubular acidosis with progressive nerve deafness
NewbornDxHL™
ATP7A
Menkes disease
NewbornDx™
ATP7B
Wilson disease
NewbornDx™
ATP8B1
Progressive intrahepatic cholestasis
NewbornDx™
ATR
Seckel syndrome
NewbornDx™
ATRX
Alpha-thalassemia X-linked intellectual disability syndrome
NewbornDx™
AUH
3-Methylglutaconic aciduria
NewbornDx™
B
BCKDHA
Maple syrup urine disease
NewbornDx™
BCKDHB
Maple syrup urine disease
NewbornDx™
BCS1L
Mitochondrial complex III deficiency
NewbornDx™
Mitochondrial complex III deficiency
NewbornDxHL™
BRAF
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
BRCA2
Fanconi anemia
NewbornDx™
BSND
Sensorineural deafness with mild renal dysfunction
NewbornDx™
Sensorineural deafness with mild renal dysfunction
NewbornDxHL™
BTD
Biotinidase deficiency
NewbornDx™
Biotinidase deficiency
NewbornDxHL™
C
C7orf10
Glutaric aciduria
NewbornDx™
CABP2
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
CACNA1C
Timothy syndrome
NewbornDx™
CACNA1D
Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities
NewbornDx™
Sinoatrial node dysfunction and deafness; Primary aldosteronism, seizures, and neurologic abnormalities
NewbornDxHL™
CASK
Intellectual disability and microcephaly with pontine and cerebellar hypoplasia
NewbornDx™
CASR
Familial hypocalciuric hypercalcemia, Neonatal severe hyperparathyroidism
NewbornDx™
CBS
Homocystinuria
NewbornDx™
CCDC50
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
CCS
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND)
NewbornDx™
Congenital cataracts, hearing loss, and neurodegeneration (CCHLND)
NewbornDxHL™
CD3D
Severe combined immunodeficiency
NewbornDx™
CD3E
Severe combined immunodeficiency
NewbornDx™
CDAN1
Congenital dyserythropoietic anemia
NewbornDx™
CDH23
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
CDK5RAP2
Primary autosomal recessive microcephaly 5
NewbornDx™
CDKL5
Early infantile epileptic encephalopathy
NewbornDx™
CEACAM16
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
CENPJ
Primary autosomal recessive microcephaly 5
NewbornDx™
CEP152
Primary autosomal recessive microcephaly 5
NewbornDx™
CEP290
Joubert syndrome
NewbornDx™
CERS3
Ichthyosis
NewbornDx™
CFTR
Cystic fibrosis
NewbornDx™
CHD7
CHARGE syndrome
NewbornDx™
CHM
Choroideremia
NewbornDx™
CIB2
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
CLDN14
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
CLPP
Perrault syndrome 3
NewbornDx™
Perrault syndrome 3
NewbornDxHL™
CLRN1
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
COA5
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3
NewbornDx™
COCH
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
COL11A1
Stickler syndrome
NewbornDxHL™
COL11A2
Stickler syndrome
NewbornDx™
Stickler syndrome
NewbornDxHL™
COL17A1
Epidermolysis bullosa
NewbornDx™
COL1A1
Ehlers-Danlos, Osteogenesis imperfecta
NewbornDx™
COL1A2
Ehlers-Danlos, Osteogenesis imperfecta
NewbornDx™
COL7A1
Epidermolysis bullosa
NewbornDx™
COMP
Pseudoachondroplasia; Epiphyseal dysplasia, multiple 1
NewbornDx™
COMT
Metabolism of catechol drugs
NewbornDx™
COX15
Mitochondrial complex IV deficiency
NewbornDx™
CPS1
Carbamoylphosphate synthetase I deficiency
NewbornDx™
CPT1A
Carnitine palmitoyltransferase IA deficiency
NewbornDx™
CPT2
Carnitine palmitoyltransferase II deficiency
NewbornDx™
CRTAP
Osteogenesis imperfecta
NewbornDx™
CRYM
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
CSTB
Progressive myoclonic epilepsy (Lafora Disease)
NewbornDx™
CTNS
Cystinosis; Nephropathic cystinosis; Non-nephropathic ocular cystinosis
NewbornDx™
CTRC
Hereditary pancreatitis
NewbornDx™
CTSD
Neuronal ceroid lipofuscinosis
NewbornDx™
CYP11B1
11-beta-hydroxylase-deficient congenital adrenal hyperplasia
NewbornDx™
CYP11B2
Corticosterone methyloxidase deficiency
NewbornDx™
CYP17A1
17-alpha-hydroxylase-deficient congenital adrenal hyperplasia
NewbornDx™
CYP4F22
Ichthyosis
NewbornDx™
D
D2HGDH
D-2-hydroxyglutaric aciduria 1
NewbornDx™
DBT
Maple syrup urine disease
NewbornDx™
DCLRE1C
Severe combined immunodeficiency
NewbornDx™
DDC
Aromatic L-amino acid decarboxylase deficiency
NewbornDx™
DECR1
2,4-dienoyl-CoA reductase deficiency
NewbornDx™
DEFB1
Staphylococcus aureus susceptibility
NewbornDx™
DFNA5
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
DFNB31
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
DFNB59
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
DHCR7
Smith-Lemli-Opitz syndrome
NewbornDx™
DIABLO
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
DIAPH1
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
DICER1
Pleuropulmonary blastoma
NewbornDx™
DLAT
Pyruvate dehydrogenase deficiency
NewbornDx™
DLD
Dihydrolipoamide dehydrogenase deficiency, Maple syrup urine disease
NewbornDx™
DMPK
Myotonic dystrophy
NewbornDx™
DNA2
Progressive external ophthalmoplegia with mitochondrial DNA deletions
NewbornDx™
DNAH11
Primary ciliary dyskinesia
NewbornDx™
DNAH5
Primary ciliary dyskinesia
NewbornDx™
DNAI1
Primary ciliary dyskinesia
NewbornDx™
DNAJC19
3-Methylglutaconic aciduria
NewbornDx™
DSPP
Autosomal dominant hearing loss with dentinogenesis
NewbornDx™
Autosomal dominant hearing loss with dentinogenesis
NewbornDxHL™
DSTYK
Congenital anomalies of kidney and urinary tract
NewbornDx™
DUOX2
Thyroid dyshormonogenesis (congenital hypothyroidism)
NewbornDx™
DUOXA2
Thyroid dyshormonogenesis (congenital hypothyroidism)
NewbornDx™
E
EDN3
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
EDNRB
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
EGR2
Charcot-Marie-Tooth disease
NewbornDx™
EIF2AK3
Multiple epiphyseal dysplasia with early-onset diabetes mellitus (Wolcott-Rallison syndrome)
NewbornDx™
ELANE
Cyclic neutropenia; Congenital severe neutropenia
NewbornDx™
EPB42
Spherocytosis
NewbornDx™
EPM2A
Progressive myoclonic epilepsy (Lafora Disease)
NewbornDx™
ESRRB
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
ETFA
Glutaric acidemia type II
NewbornDx™
ETFB
Glutaric acidemia type II
NewbornDx™
ETFDH
Glutaric acidemia type II
NewbornDx™
ETHE1
Ethylmalonic encephalopathy
NewbornDx™
EVC
Ellis-van Creveld syndrome
NewbornDx™
EVC2
Ellis-van Creveld syndrome
NewbornDx™
EYA1
Branchiootorenal spectrum disorders
NewbornDx™
Branchiootorenal spectrum disorders
NewbornDxHL™
EYA4
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
F
F10
Factor X deficiency
NewbornDx™
F11
Factor XI deficiency
NewbornDx™
F13A1
Factor XIII subunit A deficiency
NewbornDx™
F2
Thrombophilia due to thrombin defect
NewbornDx™
F5
Factor V deficiency; Thrombophilia due to activated protein C resistance
NewbornDx™
F8
Factor VIII deficiency; Hemophilia A
NewbornDx™
F9
Factor IX deficiency; Hemophilia B
NewbornDx™
FAH
Tyrosinemia
NewbornDx™
FANCA
Fanconi anemia
NewbornDx™
FANCB
Fanconi anemia
NewbornDx™
FANCC
Fanconi anemia
NewbornDx™
FANCD2
Fanconi anemia
NewbornDx™
FBN1
Marfan syndrome
NewbornDx™
FBP1
Fructose 1,6 bisphosphatase deficiency
NewbornDx™
FGA
Congenital afibrinogenemia
NewbornDx™
FGB
Congenital afibrinogenemia
NewbornDx™
FGF3
Congenital deafness with labyrinthine aplasia microtia and microdontia
NewbornDx™
Congenital deafness with labyrinthine aplasia microtia and microdontia
NewbornDxHL™
FGFR2
Crouzon syndrome; Jackson-Weiss syndrome; Beare-Stevenson syndrome; Pfeiffer syndrome; Apert syndrome
NewbornDx™
FGFR3
Achondroplasia; Thanatophoric dysplasia; Craniosynostosis
NewbornDx™
Achondroplasia; Thanatophoric dysplasia; Craniosynostosis
NewbornDxHL™
FGG
Congenital afibrinogenemia
NewbornDx™
FKTN
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies
NewbornDx™
FOXG1
Congenital variant Rett syndrome
NewbornDx™
FOXI1
Pendred syndrome
NewbornDx™
Pendred syndrome
NewbornDxHL™
FOXRED1
Leigh syndrome due to mitochondrial complex I deficiency
NewbornDx™
FRAS1
Fraser syndrome
NewbornDx™
FUCA1
Fucosidosis
NewbornDx™
G
G6PD
Glucose-6-phosphate dehydrogenase deficiency
NewbornDx™
GAA
Glycogen storage disease type II (Pompe disease)
NewbornDx™
GALC
Krabbe disease
NewbornDx™
GALE
Epimerase Deficiency Galactosemia
NewbornDx™
GALK1
Galactokinase deficiency
NewbornDx™
GALNS
Mucopolysaccharidosis Type IV
NewbornDx™
GALT
Galactosemia
NewbornDx™
GAMT
Guanidinoacetate methyltransferase deficiency
NewbornDx™
GATA1
X-linked anemia with/without neutropenia and/or platelet abnormalities; X-linked thrombocytopenia with or without dyserythropoietic anemia
NewbornDx™
GATA3
Hypoparathyroidism, sensorineural deafness, and renal disease
NewbornDx™
Hypoparathyroidism, sensorineural deafness, and renal disease
NewbornDxHL™
GATM
L-Arginine:Glycine amidinotransferase deficiency
NewbornDx™
GBE1
Glycogen storage disease type IV
NewbornDx™
GCDH
Glutaric aciduria
NewbornDx™
GCH1
Hyperphenylalaninemia, BH4-deficient
NewbornDx™
GCK
Hyperinsulinism
NewbornDx™
GIPC3
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GJB2
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GJB3
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GJB6
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GK
Glycerol kinase deficiency
NewbornDx™
GLA
Fabry disease
NewbornDx™
GLB1
Mucopolysaccharidosis Type IV
NewbornDx™
GLDC
Non-ketotic hyperglycinemia (glycine encephalopathy)
NewbornDx™
GLYCTK
D-Glyceric aciduria
NewbornDx™
GNA11
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia
NewbornDx™
GNAS
McCune-Albright syndrome
NewbornDx™
GNE
Sialuria; Inclusion body myopathy
NewbornDx™
GNMT
Glycine N-methyltransferase deficiency
NewbornDx™
GNPTAB
Mucolipidosis II, III alpha/beta
NewbornDx™
GP1BA
Bernard-Soulier syndrome
NewbornDx™
GP9
Bernard-Soulier syndrome
NewbornDx™
GPC3
Simpson-Golabi-Behmel syndrome
NewbornDx™
GPHN
Molybdenum cofactor deficiency A
NewbornDx™
GPR98
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
GPSM2
Chudley-McCullough syndrome
NewbornDx™
Chudley-McCullough syndrome
NewbornDxHL™
GRHL2
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GRXCR1
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
GSS
Glutathione synthetase deficiency
NewbornDx™
GUSB
Mucopolysaccharidosis Type VII
NewbornDx™
GYS2
Glycogen storage disease type 0, Liver
NewbornDx™
H
H19
Wilms tumor
NewbornDx™
HADH
Hyperinsulinism
NewbornDx™
HADHA
Trifunctional protein deficiency
NewbornDx™
HADHB
Trifunctional protein deficiency
NewbornDx™
HARS
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
HBB
Sickle cell disease
NewbornDx™
HESX1
Combined pituitary hormone deficiency
NewbornDx™
HEXA
Tay-Sachs Disease; Hexosaminidase A deficiency
NewbornDx™
HEXB
Sandhoff Disease
NewbornDx™
HGD
Alkaptonuria
NewbornDx™
HGF
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
HIBCH
3-hydroxyisobutryl-CoA hydrolase deficiency (Beta-hydroxyisobutyryl-CoA deacylase deficiency)
NewbornDx™
HLCS
Holocarboxylase synthetase deficiency
NewbornDx™
HMGCL
3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency
NewbornDx™
HMGCS2
3-Hydroxy-3-methylglutaryl-CoA synthase 2 deficiency
NewbornDx™
HNF1A
Maturity-onset diabetes of the young
NewbornDx™
HNF1B
Renal Cysts and Diabetes syndrome
NewbornDx™
HNF4A
Maturity-onset diabetes of the young
NewbornDx™
HPD
Tyrosinemia
NewbornDx™
HPRT1
Lesch-Nyhan syndrome
NewbornDx™
HRAS
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
HSD17B10
17-beta-hydroxysteroid dehydrogenase X deficiency (2-methyl-3-hydroxybutyric aciduria)
NewbornDx™
HSD17B4
D-bifunctional protein deficiency
NewbornDx™
D-bifunctional protein deficiency
NewbornDxHL™
HSD3B2
3-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia
NewbornDx™
I
IER3IP1
Microcephaly, epilepsy, and diabetes syndrome
NewbornDx™
IGF1
Growth retardation with deafness and mental retardation due to IGF1 deficiency
NewbornDx™
Growth retardation with deafness and mental retardation due to IGF1 deficiency
NewbornDxHL™
IGF1R
Resistance to IGF1
NewbornDx™
IL2RA
Interleukin 2 receptor alpha chain deficiency
NewbornDx™
IL2RG
Severe combined immunodeficiency
NewbornDx™
IL7R
Severe combined immunodeficiency
NewbornDx™
ILDR1
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
INS
Permanent neonatal diabetes mellitus
NewbornDx™
INSR
Hyperinsulinism
NewbornDx™
ITGA2B
Glanzmann's thrombasthenia; Autosomal dominant platelet-type bleeding disorder
NewbornDx™
ITGA6
Epidermolysis bullosa
NewbornDx™
ITGB3
Glanzmann's thrombasthenia; Autosomal dominant platelet-type bleeding disorder
NewbornDx™
ITGB4
Epidermolysis bullosa
NewbornDx™
IVD
Isovaleric acidemia
NewbornDx™
J
JAG1
Alagille syndrome
NewbornDx™
JAK3
Severe combined immunodeficiency
NewbornDx™
K
KCNE1
Jervell and Lange-Nielsen syndrome
NewbornDx™
Jervell and Lange-Nielsen syndrome
NewbornDxHL™
KCNJ10
Pendred syndrome
NewbornDx™
Pendred syndrome
NewbornDxHL™
KCNJ11
Hyperinsulinism, Permanent neonatal diabetes mellitus
NewbornDx™
KCNQ1
Jervell and Lange-Nielsen syndrome
NewbornDx™
Jervell and Lange-Nielsen syndrome
NewbornDxHL™
KCNQ10T1
Wilms tumor
NewbornDx™
KCNQ2
Benign familial neonatal epilepsy
NewbornDx™
KCNQ3
Benign familial neonatal epilepsy
NewbornDx™
KCNQ4
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
KDM6A
Kabuki syndrome
NewbornDx™
KLF1
Congenital dyserythropoietic anemia
NewbornDx™
KMT2D
Kabuki syndrome
NewbornDx™
KRAS
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
KRT5
Epidermolysis bullosa
NewbornDx™
L
LAMA2
Congenital muscular dystrophy
NewbornDx™
LAMA3
Epidermolysis bullosa
NewbornDx™
LAMB3
Epidermolysis bullosa
NewbornDx™
LAMC2
Epidermolysis bullosa
NewbornDx™
LCK
Immunodeficiency
NewbornDx™
LEPRE1
Osteogenesis imperfecta
NewbornDx™
LHFPL5
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
LHX3
Combined pituitary hormone deficiency
NewbornDx™
Combined pituitary hormone deficiency
NewbornDxHL™
LHX4
Combined pituitary hormone deficiency
NewbornDx™
LIAS
Pyruvate dehydrogenase deficiency
NewbornDx™
LIG4
Severe combined immunodeficiency
NewbornDx™
LIPA
Wolman Disease; Lysosomal acid lipase deficiency
NewbornDx™
LIPN
Ichthyosis
NewbornDx™
LMBRD1
Methylmalonic aciduria and homocystinuria
NewbornDx™
LOXHD1
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
LRPPRC
Leigh syndrome, French-Canadian Type
NewbornDx™
LRTOMT
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
M
MAN2B1
Alpha-mannosidase
NewbornDx™
MAP2K1
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
MARVELD2
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
MAT1A
Hypermethioninemia
NewbornDx™
MCCC1
3-Methylcrotonyl-CoA carboxylase deficiency
NewbornDx™
MCCC2
3-Methylcrotonyl-CoA carboxylase deficiency
NewbornDx™
MCM4
Natural killer cell and glucocorticoid deficiency with DNA repair defect
NewbornDx™
MCPH1
Primary autosomal recessive microcephaly 5
NewbornDx™
MECP2
Neonatal severe encephalopathy; Rett syndrome
NewbornDx™
MEF2C
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
NewbornDx™
MIR96
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MITF
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
MKKS
McKusick-Kaufman syndrome; Bardet-Biedl syndrome 6
NewbornDx™
MLYCD
Malonyl-CoA decarboxylase deficiency
NewbornDx™
MMAA
Methylmalonic aciduria
NewbornDx™
MMAB
Methylmalonic aciduria
NewbornDx™
MMACHC
Methylmalonic aciduria and homocystinuria
NewbornDx™
MMADHC
Methylmalonic aciduria and homocystinuria
NewbornDx™
MOCS1
Molybdenum cofactor deficiency A
NewbornDx™
MOCS2
Molybdenum cofactor deficiency A
NewbornDx™
MPC1
Mitochondrial pyruvate carrier deficiency
NewbornDx™
MPI
Congenital disorder of glycosylation type Ib, Congenital disorder of glycosylation
NewbornDx™
MPZ
Charcot-Marie-Tooth disease
NewbornDx™
MSRB3
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
MT-RNR1
Mitochondrial nonsyndromic deafness
NewbornDx™
Mitochondrial nonsyndromic deafness
NewbornDxHL™
MT-TS1
Mitochondrial nonsyndromic deafness
NewbornDx™
Mitochondrial nonsyndromic deafness
NewbornDxHL™
MTHFR
Homocystinuria
NewbornDx™
MTR
Homocystinuria-megaloblastic anemia
NewbornDx™
MTRR
Homocystinuria-megaloblastic anemia
NewbornDx™
MUT
Methylmalonic aciduria
NewbornDx™
MVK
Mevalonic aciduria
NewbornDx™
MYCN
Feingold syndrome
NewbornDx™
MYH14
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYH9
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYO15A
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
MYO1A
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYO1C
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYO1F
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYO3A
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
MYO6
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
MYO7A
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
N
NAA10
Microphthalmia
NewbornDx™
NAGS
N-Acetylglutamate synthase deficiency
NewbornDx™
NDN
Prader-Willi syndrome
NewbornDx™
NDUFA11
Mitochondrial complex I deficiency
NewbornDx™
NDUFA2
Leigh syndrome due to mitochondrial complex I deficiency
NewbornDx™
NDUFA9
Leigh syndrome due to mitochondrial complex I deficiency
NewbornDx™
NDUFAF5
Mitochondrial complex I deficiency
NewbornDx™
NDUFS2
Mitochondrial complex I deficiency
NewbornDx™
NDUFS4
Mitochondrial complex I deficiency
NewbornDx™
NDUFV2
Mitochondrial complex I deficiency
NewbornDx™
NEU1
Sialidosis type I, type II
NewbornDx™
NFU1
Multiple mitochondrial dysfunctions syndrome 1
NewbornDx™
NHEJ1
Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to Ionizing radiation
NewbornDx™
NHLRC1
Progressive myoclonic epilepsy (Lafora Disease)
NewbornDx™
NIPAL4
Ichthyosis
NewbornDx™
NIPBL
Cornelia de Lange syndrome
NewbornDx™
NKX2-1
Choreoasthetosis, hypothyroidism, and neonatal respiratory distress
NewbornDx™
NKX2-5
Congenital hypothyroidism, nongoitrous
NewbornDx™
NOTCH2
Alagille syndrome
NewbornDx™
NPC1
Niemann-Pick disease
NewbornDx™
NPC2
Niemann-Pick disease
NewbornDx™
NR0B1
X-linked adrenal hypoplasia congenita
NewbornDx™
NRAS
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
NSD1
Sotos syndrome; Weaver syndrome
NewbornDx™
O
OAT
Ornithine aminotransferase deficiency
NewbornDx™
OGDH
Alpha-ketoglutarate dehydrogenase deficiency
NewbornDx™
OPA3
3-Methylglutaconic aciduria
NewbornDx™
OPLAH
5-oxoprolinase deficiency
NewbornDx™
OPRM1
Metabolism of opioids
NewbornDx™
OTC
Ornithine transcarbamylase deficiency
NewbornDx™
OTOF
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
OTOG
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
OTOGL
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
OXCT1
Succinyl-CoA:3-oxoacid CoA transferase deficiency
NewbornDx™
P
PAH
Phenylketonuria
NewbornDx™
PAX2
Renal coloboma syndrome; Renal hypodysplasia
NewbornDx™
PAX3
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
PAX8
Congenital hypothyroidism, nongoitrous
NewbornDx™
PC
Pyruvate carboxylase deficiency
NewbornDx™
PCBD1
Hyperphenylalaninemia, BH4-deficient
NewbornDx™
PCCA
Propionic acidemia
NewbornDx™
PCCB
Propionic acidemia
NewbornDx™
PCDH15
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
PCK1
Phosphoenolpyruvate carboxykinase-1 deficiency, cytosolic
NewbornDx™
PCNT
Microcephalic osteodysplastic primordial dwarfism
NewbornDx™
PDHA1
Pyruvate dehydrogenase deficiency
NewbornDx™
PDHB
Pyruvate dehydrogenase deficiency
NewbornDx™
PDHX
Pyruvate dehydrogenase deficiency
NewbornDx™
PDP1
Pyruvate dehydrogenase deficiency
NewbornDx™
PDX1
Maturity-onset diabetes of the young
NewbornDx™
PDZD7
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
PEPD
Prolidase deficiency
NewbornDx™
PET100
Mitochondrial complex IV deficiency
NewbornDx™
PHGDH
Neu-Laxova syndrome
NewbornDx™
PHOX2B
Congenital central hypoventilation syndrome
NewbornDx™
PKD2
Polycystic kidney disease
NewbornDx™
PKHD1
Polycystic kidney disease
NewbornDx™
PKLR
Pyruvate kinase deficiency
NewbornDx™
PLEC
Epidermolysis bullosa
NewbornDx™
PLOD1
Ehlers-Danlos
NewbornDx™
PMM2
Congenital disorder of glycosylation type Ia, Congenital disorder of glycosylation
NewbornDx™
PMP22
Charcot-Marie-Tooth disease
NewbornDx™
PNP
Immunodeficiency due to purine nucleoside phosphorylase deficiency
NewbornDx™
PNPLA1
Ichthyosis
NewbornDx™
PNPO
Pyridoxamine 5-prime-phosphate oxidase deficiency
NewbornDx™
PNPT1
Combined oxidative phosphorylation deficiency
NewbornDx™
POLG
Mitochondrial DNA depletion syndrome
NewbornDx™
POMC
Proopiomelanocortin deficiency
NewbornDx™
POMT1
Congenital muscular dystrophy
NewbornDx™
POMT2
Congenital muscular dystrophy
NewbornDx™
POU1F1
Combined pituitary hormone deficiency
NewbornDx™
POU3F4
X-linked nonsyndromic deafness
NewbornDx™
X-linked nonsyndromic deafness
NewbornDxHL™
POU4F3
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
PPM1K
Maple syrup urine disease
NewbornDx™
PRKAG2
Glycogen storage disease of heart
NewbornDx™
PRODH
Hyperprolinemia, Type I
NewbornDx™
PROP1
Combined pituitary hormone deficiency
NewbornDx™
PROS1
Thrombophilia due to protein S deficiency
NewbornDx™
PRPS1
X-linked nonsyndromic deafness
NewbornDx™
X-linked nonsyndromic deafness
NewbornDxHL™
PSAP
Metachromatic leukodystrophy (arylsulfatase A deficiency)
NewbornDx™
PSAT1
Neu-Laxova syndrome
NewbornDx™
PSEN1
Dilated cardiomyopathy
NewbornDx™
PSPH
Phosphoserine phosphatase deficiency
NewbornDx™
PTF1A
Permanent neonatal diabetes mellitus
NewbornDx™
PTPN11
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
PTPRC
Severe combined immunodeficiency
NewbornDx™
PTPRQ
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
PTS
6-Pyruvoyltetrahydropterin synthase deficiency
NewbornDx™
Q
QDPR
Hyperphenylalaninemia, BH4-deficient
NewbornDx™
R
RAB18
Warburg micro syndrome
NewbornDx™
RAB3GAP1
Warburg micro syndrome
NewbornDx™
RAB3GAP2
Warburg micro syndrome
NewbornDx™
RAF1
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
RAG1
Severe combined immunodeficiency
NewbornDx™
RAG2
Severe combined immunodeficiency
NewbornDx™
RB1
Retinoblastoma
NewbornDx™
RBBP8
Seckel syndrome
NewbornDx™
RBM8A
Thrombocytopenia-absent radius syndrome
NewbornDx™
RET
Pheochromocytoma
NewbornDx™
RMRP
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders
NewbornDx™
RPS19
Diamond-Blackfan anemia
NewbornDx™
RPS6KA3
Coffin-Lowry syndrome
NewbornDx™
Coffin-Lowry syndrome
NewbornDxHL™
S
SALL1
Townes-Brocks syndrome
NewbornDx™
SALL4
IVIC syndrome; Duane-radial ray syndrome
NewbornDx™
IVIC syndrome; Duane-radial ray syndrome
NewbornDxHL™
SBDS
Shwachman-Diamond syndrome
NewbornDx™
SCN1A
Severe myoclonic epilepsy in infancy
NewbornDx™
SDHAF1
Mitochondrial complex II deficiency
NewbornDx™
SERAC1
3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
NewbornDx™
SERPINA1
Alpha-1-antitrypsin deficiency
NewbornDx™
SERPINB6
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
SERPINC1
Hereditary antithrombin deficiency; Hereditary antithrombin deficiency type I and II
NewbornDx™
SERPING1
Hereditary angioedema; Hereditary C1 esterase inhibitor deficiency - dysfunctional factor
NewbornDx™
SFTPB
Pulmonary surfactant dysfunction
NewbornDx™
SFTPC
Pulmonary surfactant dysfunction
NewbornDx™
SFTPD
Pulmonary surfactant dysfunction
NewbornDx™
SHOC2
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
SIX1
Branchiootorenal spectrum disorders
NewbornDx™
Branchiootorenal spectrum disorders
NewbornDxHL™
SIX5
Branchiootorenal spectrum disorders
NewbornDx™
Branchiootorenal spectrum disorders
NewbornDxHL™
SLC16A1
Hyperinsulinism
NewbornDx™
SLC17A8
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
SLC22A5
Systemic primary carnitine deficiency
NewbornDx™
SLC25A1
Combined D-2- and L-2-hydroxyglutaric aciduria
NewbornDx™
SLC25A13
Citrullinemia
NewbornDx™
SLC25A19
Amish lethal microcephaly
NewbornDx™
SLC25A20
Carnitine-acylcarnitine translocase deficiency
NewbornDx™
SLC26A2
Diastrophic dysplasia; Atelosteogenesis type II; Achondrogenesis type 1B; Multiple epiphyseal dysplasia
NewbornDx™
SLC26A4
Pendred syndrome
NewbornDx™
Pendred syndrome
NewbornDxHL™
SLC26A5
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
SLC2A1
Glucose transporter type 1 deficiency syndrome
NewbornDx™
SLC37A4
Glycogen storage disease type 1 (glucose-6-phosphate transport defect)
NewbornDx™
SLC46A1
Hereditary folate malabsorption
NewbornDx™
SLC4A1
Spherocytosis
NewbornDx™
SLC52A1
Riboflavin deficiency
NewbornDx™
SLC5A5
Thyroid dyshormonogenesis (congenital hypothyroidism)
NewbornDx™
SLC6A1
Myoclonic-atonic epilepsy
NewbornDx™
SLC7A7
Lysinuric protein intolerance
NewbornDx™
SLC9A6
Christianson syndrome
NewbornDx™
SLCO1B1
Hyperbilirubinemia, rotor type
NewbornDx™
SLCO1B3
Hyperbilirubinemia, rotor type
NewbornDx™
SMPD1
Niemann-Pick disease
NewbornDx™
SMPX
X-linked nonsyndromic deafness
NewbornDx™
X-linked nonsyndromic deafness
NewbornDxHL™
SNAI2
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
SNRPN
Prader-Willi syndrome
NewbornDx™
SOS1
RASopathy (Noonan, Costello, cardiofaciocutaneous)
NewbornDx™
SOX10
Waardenburg syndrome
NewbornDx™
Waardenburg syndrome
NewbornDxHL™
SOX2
Microphthalmia, Optic nerve hypoplasia
NewbornDx™
Microphthalmia, Optic nerve hypoplasia
NewbornDxHL™
SOX9
Campomelic dysplasia
NewbornDx™
SPINK1
Hereditary pancreatitis
NewbornDx™
SPR
Dopa-responsive dystonia due to sepiapterin reductase deficiency
NewbornDx™
SPRED1
Legius syndrome
NewbornDx™
SPTA1
Spherocytosis
NewbornDx™
SPTAN1
Early infantile epileptic encephalopathy
NewbornDx™
SPTB
Elliptocytosis
NewbornDx™
ST3GAL5
Amish infantile epilepsy syndrome
NewbornDx™
STAR
Congenital lipoid adrenal hyperplasia
NewbornDx™
STIL
Primary autosomal recessive microcephaly 5
NewbornDx™
STXBP1
Early infantile epileptic encephalopathy
NewbornDx™
SUCLA2
Mitochondrial DNA depletion syndrome
NewbornDx™
SUCLG1
Mitochondrial DNA depletion syndrome
NewbornDx™
SUMF1
Multiple sulfatase deficiency
NewbornDx™
SUOX
Sulfite oxidase deficiency (sulfocysteinuria)
NewbornDx™
T
TAT
Tyrosinemia
NewbornDx™
TAZ
Barth syndrome
NewbornDx™
TBX19
Adrenocorticotropic hormone deficiency
NewbornDx™
TBX5
Holt-Oram syndrome
NewbornDx™
TCF4
Pitt-Hopkins syndrome
NewbornDx™
TCN2
Transcobalamin II deficiency
NewbornDx™
TECTA
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TG
Thyroid dyshormonogenesis (congenital hypothyroidism)
NewbornDx™
TGM1
Ichthyosis
NewbornDx™
THRA
Congenital hypothyroidism, nongoitrous
NewbornDx™
TIMM8A
Deafness-dystonia-optic neuronopathy syndrome
NewbornDx™
Deafness-dystonia-optic neuronopathy syndrome
NewbornDxHL™
TJP2
Autosomal dominant nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness
NewbornDxHL™
TMC1
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal dominant nonsyndromic deafness, Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TMIE
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TMPRSS3
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TPO
Thyroid dyshormonogenesis (congenital hypothyroidism)
NewbornDx™
TPRN
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TRAP1
Congenital anomalies of kidney and urinary tract
NewbornDx™
TRHR
Generalized thyrotropin-releasing hormone resistance
NewbornDx™
TRIOBP
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
TRIP11
Achondrogenesis
NewbornDx™
TRMU
Infantile transient liver failure
NewbornDx™
TSC1
Tuberous sclerosis
NewbornDx™
TSC2
Tuberous sclerosis
NewbornDx™
TSHB
Congenital hypothyroidism, nongoitrous
NewbornDx™
TSHR
Congenital hypothyroidism, nongoitrous
NewbornDx™
TSPEAR
Autosomal recessive nonsyndromic deafness
NewbornDx™
Autosomal recessive nonsyndromic deafness
NewbornDxHL™
U
UBE3A
Angelman syndrome
NewbornDx™
UCP2
Hyperinsulinism
NewbornDx™
UGT1A1
Transient familial neonatal hyperbilirubinemia
NewbornDx™
UMPS
Orotic aciduria
NewbornDx™
UPB1
Beta-Ureidopropionase deficiency
NewbornDx™
UQCC2
Mitochondrial complex III deficiency
NewbornDx™
UQCC3
Mitochondrial complex III deficiency
NewbornDx™
UQCRC2
Mitochondrial complex III deficiency
NewbornDx™
UROS
Congenital erythropoietic porphyria
NewbornDx™
USH1C
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
USH1G
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
USH2A
Usher syndrome
NewbornDx™
Usher syndrome
NewbornDxHL™
W
WAS
Wiskott-Aldrich syndrome; X-linked thrombocytopenia
NewbornDx™
WDR62
Primary autosomal recessive microcephaly 5
NewbornDx™
WFS1
Wolfram syndrome
NewbornDx™
Wolfram syndrome
NewbornDxHL™
WNK1
Hereditary sensory and autonomic neuropathy; Pseudohypoaldosteronism
NewbornDx™
WT1
Aniridia, Wilms tumor
NewbornDx™
Y
YY1
Hyperinsulinism
NewbornDx™
Z
ZAP70
Severe combined immunodeficiency
NewbornDx™
ZEB2
Mowat-Wilson syndrome
NewbornDx™

Please submit your gene of interest for future product development