Disorders Covered by The Newborn Screening Test

Early diagnosis of any of these 50 disorders through NBS ensure baby's health by simple modification in the diet or by appropriate medications. This prevents severe health issues in the future.



  • Carnitine / Acylcarnitine Translocase Deficiency (CACT)
  • Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I) *
  • 2,4-Dienoyl-CoA Reductase Deficiency (DE-RED) *
  • Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
  • Medium Chain Acyl-CoA Dehydrogenase Deficiency
  • Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or GA-II)
  • Neonatal Carnitine Palmitoyl Transferase Deficiency Type II
  • Short-chain Acyl-CoA Dehydrogenase Deficiency (SCAD)
  • Short chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
  • Trifunctional Protein Deficiency (TFP)
  • Very Long Chain Acyl-CoA Dehydrogenase Deficiency
  • Carnitine Uptake Deficiency (CUD) *
  • Homocystinuria (HCY)
  • Hypermethioninemia (MET)
  • Maple Syrup Urine Disease (MSUD)
  • 5-oxoprolinuria (5-OXO or Pyroglutamic Aciduria)
  • Phenylketonuria (PKU)
  • Tyrosinemia (TYR)
  • Liver Disease
  • Hyperalimentation
  • Hyperprolinemia 1 and 2
  • Pyruvate decarboxylase deficiency
  • Hypervalinemia
  • Hyperglycinemia
  • Hyperornithinemia with Gyral Atrophy (HOGA) *
  • Isovaleric Acidemia (IVA)
  • Glutaric Acidemia-Type I (GA-I)
  • 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBG)
  • 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)
  • 3-Methylglutaconyl-CoA Hydratase Deficiency (3MGA)
  • Methylmalonic Acidemias (MMA)
  • Methymalonyl-CoA Mutase Deficiency (MUT)
  • Some Adenosylcobalamin Synthesis Defects (CBL A, B/CBL C,D)
  • Maternal Vitamin B12 Deficiency
  • Mitochondrial Acetoacetyl-CoA Thiolase Deficiency (BKT)
  • Propionic Acidemia (PROP)
  • Malonic Aciduria (MAL)
  • Multiple CoA Carboxylase Deficiency (MCD)
  • Medium Chain Triglyceride (MCT) Oil Administration
  • HMG Co A lyase deficiency
  • 2-methyl-3-hydroxybutyryl CoA dehydrogenase deficiency
  • Argininemia (ARG)
  • Argininosuccinic Aciduria (ASA Lyase)
  • Carbamoylphosphate Synthetase Deficiency (CPS) *
  • Citrullinemia (CIT-I or ASA Synthetase)
  • Ornithine transcarbamylse (OTC)
  • N- Acetylglutamate synthatase (NAGS)
  • Lysinuric protein Intolerance (LPI)
  • Hyperammonemia, Hyperornithinemia, Homocitrullinemia

G6PD deficiency is an inherited condition in which the body doesn't have enough of the enzyme glucose-6-phosphate dehydrogenase, or G6PD, which helps red blood cells (RBCs) function normally. This deficiency can cause hemolytic anemia, usually after exposure to certain medications, foods, or even infections.

Cystic fibrosis (CF) is a genetic disorder that affects mostly the lungs, but also the pancreas, liver, kidneys, and intestine. Long-term issues include difficulty breathing and coughing up mucus as a result of frequent lung infections. Other signs and symptoms include sinus infections, poor growth, fatty stool, clubbing of the fingers and toes, and infertility in males, among others. Different people may have different degrees of symptoms

Congenital adrenal hyperplasia

Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of mineralocorticoids, glucocorticoids or sex steroids from cholesterol by the adrenal glands (steroidogenesis).

Hypothyroidism

Biotinidase deficiency is an inherited autosomal recessive disorder with an incidence of around 1:50,000. Two types of biotinidase deficiency have been reported, profound and partial , partial deficients have 10-30% of normal activity and individuals with profound deficiency have < 10% of normal activity. Most infants with biotinidase deficiency experience seizures, poor muscle tone, difficulty with movement and balance, skin rashes, and delayed mental development.

Galactosemia is a disorder in which the body is not able to process a sugar called Galactose most often due to deficiency of Galactose-1-phospahate uridyl transferase. Individuals with Galactosemia will have high levels of Galactose and Galactose -1- phosphate concentrations. If untreated, it leads to lethargy, vomiting, diarrhea, hepatomegaly, jaundice and even sepsis and shock.

To Top