Sema4 Natalis screens for 193 childhood genetic conditions


Sema4 Natalis is a simple, at-home test that gives early insight into a baby’s health. This test only includes conditions that may be treated with medication, dietary modification, or other therapies, so proactive steps can be taken with a pediatrician to care for the child’s health. Sema4 Natalis uses advanced DNA sequencing technology to detect changes in your baby’s genes with > 95% accuracy.

Every Sema4 Natalis order also includes an additional pharmacogenetic analysis of a child’s response to more than 40 medications.


    • 3-beta-hydroxysteroid dehydrogenase type II deficiency (HSD3B2)
    • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC1-related) (MCCC1)
    • 3-methylcrotonyl-CoA carboxylase deficiency (MCCC2-related) (MCCC2)
    • 3-phosphoglycerate dehydrogenase deficiency (PHGDH)
    • 6-pyruvoyl-tetrahydropterin synthase deficiency (PTS)
    • Abetalipoproteinemia (MTTP)
    • Acrodermatitis enteropathica (SLC39A4)
    • Acute infantile liver failure (TRMU)
    • Adenosine deaminase deficiency (ADA)
    • Adrenoleukodystrophy, X-linked (ABCD1)
    • Alagille syndrome 1 / Tetralogy of Fallot (JAG1)
    • Alpha-thalassemia (HBA1/HBA2)
    • Alport syndrome (COL4A3-related) (COL4A3)
    • Alport syndrome (COL4A4-related) (COL4A4)
    • Alport syndrome (COL4A5-related) (COL4A5)
    • Argininemia (ARG1)
    • Argininosuccinic aciduria (ASL)
    • Ataxia with isolated vitamin E deficiency (TTPA)
    • Barth syndrome (TAZ)
    • Beta-globin-related hemoglobinopathies (HBB)
    • Beta-ketothiolase deficiency (ACAT1)
    • BH4-deficient hyperphenylalaninemia C (QDPR)
    • BH4-deficient hyperphenylalaninemia D (PCBD1)
    • Biotinidase deficiency (BTD)
    • Carbamoylphosphate synthetase I deficiency (CPS1)
    • Carnitine acylcarnitine translocase deficiency (SLC25A20)
    • Carnitine palmitoyltransferase IA deficiency (CPT1A)
    • Carnitine palmitoyltransferase II deficiency (CPT2)
    • Central hypothyroidism and testicular enlargement (IGSF1)
    • Cerebral creatine deficiency syndrome 2 (GAMT)
    • Cerebral creatine deficiency syndrome 3 (GATM)
    • Cerebrotendinous xanthomatosis (CYP27A1)
    • Chronic granulomatous disease (CYBA-related) (CYBA)
    • Chronic granulomatous disease (CYBB-related) (CYBB)
    • Citrin deficiency (SLC25A13)
    • Citrullinemia, type 1 (ASS1)
    • Combined pituitary hormone deficiency 1 (POU1F1)
    • Combined pituitary hormone deficiency 2 (PROP1)
    • Combined pituitary hormone deficiency 3 (LHX3)
    • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency (CYP11B1)
    • Congenital amegakaryocytic thrombocytopenia (MPL)
    • Congenital bile acid synthesis defect (AKR1D1-related) (AKR1D1)
    • Congenital bile acid synthesis defect (HSD3B7-related) (HSD3B7)
    • Congenital disorder of glycosylation, type Ib (MPI)
    • Congenital hypothyroidism due to thyroid dysgenesis or hypoplasia (PAX8)
    • Congenital neutropenia (HAX1-related) (HAX1)
    • Congenital nongoitrous hypothryoidism 1 / Nonautoimmune hyperthyroidism (TSHR)
    • Congenital nongoitrous hypothryoidism 4 (TSHB)
    • Congenital nongoitrous hypothryoidism 6 (THRA)
    • Corticosterone methyloxidase deficiency (CYP11B2)
    • Crigler-Najjar syndrome, types 1 and 2 / Gilbert syndrome (UGT1A1)
    • Cystic fibrosis (CTFR)
    • Cystinosis (CTNS)
    • Distal renal tubular acidosis and other SLC4A1-related disorders (SLC4A1)
    • Dopa-responsive dystonia / BH4-deficient hyperphenylalaninemia B (GCH1)
    • Early infantile epileptic encephalopathy 11 / Benign familial infantile seizures 3 (SCN2A)
    • Early infantile epileptic encephalopathy 13 / Benign familial infantile seizures 5 (SCN8A)
    • Early Infantile epileptic encephalopathy 7 / Benign neonatal seizures 1 (KCNQ2)
    • Ethylmalonic encephalopathy (ETHE1)
    • Fabry disease (GLA)
    • Factor IX deficiency (F9)
    • Familial hypercholesterolemia (LDLR)
    • Familial hyperinsulinemic hypoglycemia 4 / 3-hydroxyacyl-CoA dehydrogenase deficiency (HADH)
    • Familial hyperinsulinism (ABCC8-related) (ABCC8)
    • Familial hyperinsulinism (KCNJ11-related) (KCNJ11)
    • Familial infantile convulsions with paroxysmal choreoathetosis (PRRT2)
    • Fructose-1,6-bisphosphatase deficiency (FBP1)
    • Galactokinase deficiency (GALK1)
    • Galactose epimerase deficiency (GALE)
    • Galactosemia (GALT)
    • Generalized thyrotropin-releasing hormone resistance (TRHR)
    • Glucose transporter 1 deficiency syndrome and other SLC2A1-related disorders (SLC2A1)
    • Glutaric acidemia, type I (GCDH)
    • Glutaric acidemia, type IIa (ETFA)
    • Glutaric acidemia, type IIb (ETFB)
    • Glutaric acidemia, type IIc (ETFDH)
    • Glutathione synthetase deficiency (GSS)
    • Glycogen storage disease, type 0 (GYS2)
    • Glycogen storage disease, type Ia (G6PC)
    • Glycogen storage disease, type II (GAA)
    • Glycogen storage disease, type III (AGL)
    • Glycogen storage disease, type IXb (PHKB)
    • Glycogen storage disease, type VI (PYGL)
    • Hemolytic anemia (G6PD-related) (G6PD)
    • Hereditary fructose intolerance (ALDOB)
    • HMG-CoA lyase deficiency (HMGCL)
    • HMG-CoA synthase 2 deficiency (HMGCS2)
    • Holocarboxylase synthetase deficiency (HLCS)
    • Homocystinuria (CBS-related) (CBS)
    • Homocystinuria-megaloblastic anemia, cobalamin G type (MTR)
    • Homocystinuria, cobalamin E type (MTRR)
    • Hyperinsulinism-hyperammonemia syndrome (GLUD1)
    • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (SLC25A15)
    • Hypophosphatasia (ALPL)
    • Immunodeficiency 18 (CD3E)
    • Immunodeficiency 19 (CD3D)
    • Isovaleric acidemia (IVD)
    • Lipoamide dehydrogenase deficiency (DLD)
    • Lipoid adrenal hyperplasia (STAR)
    • Lipoprotein lipase deficiency (LPL)
    • Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (HADHA)
    • Lysinuric protein intolerance (SLC7A7)
    • Malonyl-CoA decarboxylase deficiency (MLYCD)
    • Maple syrup urine disease, type 1a (BCKDHA)
    • Maple syrup urine disease, type 1b (BCKDHB)
    • Maple syrup urine disease, type 2 (DBT)
    • Marfan syndrome and other FBN1-related disorders (FBN1)
    • Medium chain acyl-CoA dehydrogenase deficiency (ACADM)
    • Metachromatic leukodystrophy (ARSA)
    • Methionine adenosyltransferase I/III deficiency (MAT1A)
    • Methylmalonic acidemia (MMAA-related) (MMAA)
    • Methylmalonic acidemia (MMAB-related) (MMAB)
    • Methylmalonic acidemia (MUT-related) (MUT)
    • Methylmalonic aciduria and homocystinuria, cobalamin C type (MMACHC)
    • Methylmalonic aciduria and homocystinuria, cobalamin D type (MMADHC)
    • Methylmalonic aciduria and homocystinuria, cobalamin F type (LMBRD1)
    • Methylmalonyl-CoA epimerase deficiency (MCEE)
    • Mitochondrial trifunctional protein deficiency (HADHB-related) (HADHB)
    • Mucopolysaccharidosis type I (IDUA)
    • Mucopolysaccharidosis type II (IDS)
    • Mucopolysaccharidosis type IVA (GALNS)
    • Mucopolysaccharidosis type VI (ARSB)
    • N-acetylglutamate synthase deficiency (NAGS)
    • Neonatal hyperparathyroidism / Autosomal dominant hypocalcemia (CASR)
    • Nephrogenic diabetes insipidus, type II (AQP2)
    • Nephrogenic syndrome of inappropriate antidiuresis / Nephrogenic diabetes insipidus (AVPR2-related) (AVPR2)
    • Neurodegeneration due to cerebral folate transport deficiency (FOLR1)
    • Niemann-Pick disease (SMPD1-related) (SMPD1)
    • Omenn syndrome (RAG2-related) (RAG2)
    • Omenn syndrome / Severe combined immunodeficiency, Athabaskan-type (DCLRE1C)
    • Omenn syndrome and other RAG1-related disorders (RAG1)
    • Ornithine aminotransferase deficiency (OAT)
    • Ornithine transcarbomylase deficiency (OTC)
    • Osteopetrosis 1 (TCIRG1)
    • Permanent neonatal diabetes mellitus (INS-related) (INS)
    • Phenylalanine hydroxylase deficiency (PAH)
    • Primary carnitine deficiency (SLC22A5)
    • Primary hyperoxaluria, type 1 (AGXT)
    • Primary hyperoxaluria, type 2 (GRHPR)
    • Primary hyperoxaluria, type 3 (HOGA1)
    • Propionic acidemia (PCCA-related) (PCCA)
    • Propionic acidemia (PCCB-related) (PCCB)
    • Pyridoxamine 5′-phosphate oxidase deficiency (PNPO)
    • Pyridoxine-dependent epilepsy (ALDH7A1)
    • Retinoblastoma (RB1)
    • Segawa syndrome (TH)
    • Sepiapterin reductase deficiency (SPR)
    • Severe combined immunodeficiency (IL7R-related) (IL7R)
    • Severe combined immunodeficiency (JAK3-related) (JAK3)
    • Severe combined immunodeficiency (PTPRC-related) (PTPRC)
    • Spherocytosis, type 1 (ANK1)
    • Spherocytosis, type 5 (EPB42)
    • Spinal muscular atrophy (SMN1)
    • Thyroid dyshormonogenesis 1 (SLC5A5)
    • Thyroid dyshormonogenesis 2A (TPO)
    • Thyroid dyshormonogenesis 3 (TG)
    • Thyroid dyshormonogenesis 4 (IYD)
    • Thyroid dyshormonogenesis 5 (DUOXA2)
    • Thyroid dyshormonogenesis 6 (DUOX2)
    • Tyrosinemia, type I (FAH)
    • Tyrosinemia, type II (TAT)
    • Tyrosinemia, type III (HPD)
    • Very long chain acyl-CoA dehydrogenase deficiency (ACADVL)
    • Wilms tumor, type 1 and other WT1-related disorders (WT1)
    • Wolman disease / Cholesteryl ester storage disease (LIPA)
    • X-linked severe combined immunodeficiency (IL2RG)