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