Screening Results You Can Trust
Newborn screening is one of the world's most successful public health programs; infants are screened for disorders that may be inherited, infectious, or caused by a medical problem of the mother. If these disorders are not detected and treated soon after birth, they may cause mental retardation, severe illness, or premature death. Let the EIAs and RIAs from MP Biomedicals provide the tools you need to detect and properly diagnose life-threatening metabolic disorders in newborns.
- Manufactured in the US under strict ISO and GMP quality systems
- Used with Blood Spot samples
- Simple testing protocols
- Multiple pack sizes available
- Convenient option for automation
An indicator of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia (CAH) occurs from a deficiency of 21-hydroxysteroid dehydrogenase, which is responsible for converting 17OHP to 11-desoxycortisol. Failure to diagnose CAH in newborns may lead to hypotension, ambiguous genitalia, acceleration of skeletal maturation, virilization, adrenal insufficiency and premature development of secondary sex characteristics. Approximately 1 in 10,000 newborns are affected.
An indicator of Classical Galactosemia
Galactosemia is a hereditary condition that presents as a genetic defect in the conversion of galactose to glucose. Galactosemia is caused by two separate disorders: a galactokinase deficiency or uridine diphosphate galactose-4-epimerase (UDP) deficiency. If left untreated, galactosemia is characterized by enlargement and subsequent damage of the brain and liver, as well as a failure to thrive in infants. Approximately 1 in 40,000 newborns is affected.
An indicator of Phenylketouria
Phenylketouria is a congenital disease resulting in elevated blood levels of phenylalanine and excessive excretion of phenylpyruvic acid. If not diagnosed in a timely manner, phenylketouria can cause severe, irreversible mental retardation, skin abnormalities and behavioral disturbances. Approximately 1 in 15,000 newborns is affected.
Indicators of Primary Congenital Hypothyroidism
Primary Congenital Hypothyroidism is one of the most preventable causes of mental retardation in newborns. It is caused by athyroidism and hypoplasia and occurs in approximately 1 out of every 3,000 to 7,000 infants. TSH, in conjunction with T4, is used to assess total thyroid function.
An indicator of Cystic Fibrosis
Immunoreactive trypsin (IRT) is elevated in infants suffering from Cystic Fibrosis. Elevated IRT results in abnormal enzyme drainage from the pancreas, and causes thickened mucus and digestive enzymes. If not diagnosed properly, Cystic Fibrosis can cause breathing difficulties and lead to lung infections and ultimately severe lung damage. Approximately 1 in 2,500 infants are impacted in the United States, however the occurrence is speculated to be greater in other countries.
An indicator of the most common enzymopathy
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common disorder caused by defective enzyme function. It can manifest clinically as drug-induced hemolysis, infection induced hemolysis, favism, neonatal jaundice, or chronic non-spherocytic hemolytic anemia. Approximately 400 million people are impacted globally.