newborn disorders

Early detection for a range of disorders

Our newborn screening solutions help identify a variety of congenital disorders, enabling providers and patients to make treatment decisions quicker than ever with results they can trust.
Primary Newborn Screening Disorders

X-linked agammaglobulinemia (XLA)

X-linked agammaglobulinemia (XLA) is characterized by recurrent bacterial infections in affected males in the first two years of life.
Primary Newborn Screening Disorders

Congenital Adrenal Hyperplasia

The deficiency in one of the five enzymes required in the steroidogenic pathway for the biosynthesis of cortisol (hydrocortisone) results in a group of diseases known collectively as congenital adrenal hyperplasia (CAH).
Primary Newborn Screening Disorders

Duchenne muscular dystrophy (DMD)

DMD is caused by mutations in the gene coding for dystrophin protein, which provides structural stability to muscle cells.
Primary Newborn Screening Disorders

Cystic Fibrosis

Cystic fibrosis (CF) is a hereditary disease that affects the lungs and digestive system
Fatty Acid Oxidation Disorders

Carnitine Uptake Defect (CUD)

Carnitine uptake defect (CUD) is a condition that prevents the body from using fats for energy, particularly during periods without food (fasting).
Organic Acid Disorders

3-Hydroxy-3-Methylglutaric Aciduria (HMG)

HMG was first described in 1971 and more than 60 patients have subsequently been diagnosed. HMG is estimated to occur in less than 1 in 100,000 live births.
Organic Acid Disorders

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC)

3-Methylcrotonyl-CoA Carboxylase Deficiency (3-MCC) is a defect in the degradation of the amino acid leucine.
Organic Acid Disorders

Glutaric Acidemia Type I (GA I)

The disease is caused by a genetic deficiency of the enzyme, glutaryl-CoA dehydrogenase (GCD), which leads to the buildup of glutaric acid in the tissues and its excretion in the urine of affected patients. GCD is involved in the catabolism of the amino acids, lysine, hydroxylysine, and tryptophan.
Organic Acid Disorders

Isovaleric Acidemia (IVA)

Isovaleric acidemia results from a defect in the metabolism of the amino acid, leucine.
Primary Newborn Screening Disorders

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a disorder of amino acid metabolism
Fatty Acid Oxidation Disorders

Long Chain L-3 hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD)

Long-chain L-3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency is a disorder of mitochondrial fatty acid β-oxidation.
Fatty Acid Oxidation Disorders

Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCAD)

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a disorder of fatty acid β-oxidation
Primary Newborn Screening Disorders

Severe Combined Immunodeficiency (SCID)

Severe combined immunodeficiency (SCID) is a group of disorders characterized by the absence of both humoral and cellular immunity.
Primary Newborn Screening Disorders

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy (SMA) is a neuromuscular disease inherited in an autosomal recessive manner.
Primary Newborn Screening Disorders

Biotinidase Deficiency

In the absence of normal biotinidase activity, the patient develops functional biotin deficiency and its clinical symptoms.
Primary Newborn Screening Disorders

Congenital Hypothyroidism

Congenital hypothyroidism occurs when a child is born without the ability to make normal amounts of thyroid hormone.
Primary Newborn Screening Disorders

Galactosemia

Galactosemia occurs when there is an accumulation of galactose-1-phosphate in red blood cells of infants with impaired galactose metabolism
Primary Newborn Screening Disorders

Glucose-6-phosphate dehydrogenase deficiency (G6PD)

Glucose-6-phosphate dehydrogenase (G6PD) functions throughout the body, but its deficiency is seen predominantly in its effects on the red blood cells.
Primary Newborn Screening Disorders

Sickle Cell & Other Hemoglobinopathy

The hemoglobinopathies are a group of disorders in which there is abnormal production or structure of the hemoglobin molecule.
Lysosomal storage disorders (LSDs)

Lysosomal storage disorders (LSDs)

Lysosomal storage disorders develop as a result of an enzyme deficiency or malfunction that causes cell waste to build up within the cell instead of being excreted.
Amino Acid Disorders

Argininosuccinic Aciduria / Citrullinemia

Elevated citrulline in a newborn screen dried blood spot suggests one of two metabolic defects: argininosuccinic acid synthetase deficiency or argininosuccinate lyase deficiency
Amino Acid Disorders

Homocystinuria (HCY)

Homocystinuria is an inherited disorder that can be detected in newborns, in which the body is unable to process certain amino acids properly.
Amino Acid Disorders

Tyrosinemia Type-1 (TYR I)

Tyrosinemia type 1 is characterized by elevated blood levels of tyrosine
Amino Acid Disorders

Maple Syrup Urine Disease (MSUD)

Maple Syrup Urine Disease is caused by a deficiency in the ability to decarboxylate branched-chain amino acids.

PerkinElmer does not endorse or make recommendations with respect to research, medication, or treatments. All information presented is for informational purposes only and is not intended as medical advice. For country specific recommendations please consult your local health care professionals.

 

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