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