New Born Screening for Hormones & Metabolic Disorders

New Born Screening for Hormones & Metabolic Disorders

Phenylketonuria (PKU)

Bio-Rad’s Microplate Neonatal Phenylketonuria (PKU) Screen quantitatively determines phenylalanine levels in neonatal dried blood spot samples as a screen for phenylketonuria (PKU). Bio-Rad’s PKU screen is easily automated and can provide results in less than two hours. It eliminates the antibiotic interference and subjectivity inherent in traditional bacterial-inhibition assays.

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Galactosemia

Bio-Rad’s Quantase Neonatal Total Galactose Assay (TGAL) is an enzymatic, colorimetric end-point method for the determination of total D(+)galactose [D(+)galactose + galactose-1-phosphate] in dried blood spot specimens. This assay is easily automated and can be performed with any microplate reader.

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Microplate Neonatal 17-OHP Assay

Bio-Rad offers a quantitative microplate assay for the determination of 17α-hydroxyprogesterone (17-OHP) in neonatal dried blood spot samples, intended for newborn screening for Congenital Adrenal Hyperplasia (CAH). CAH is an inborn error of metabolism that results from an inherited recessive defect in any of the five enzymatic steps required to synthesize cortisol from cholesterol. Complete or partial deficiency of 21-hydroxylase leads to elevated levels of 17-OHP in 90 to 95 percent of all CAH cases.

The Bio-Rad Quantase Neonatal CAH assay is free of background interferences common with fluorometric assay methods. It is easily automated, and can be performed with any microplate reader. Each kit includes all necessary reagents.

Congenital Hypothyroidism (CH)

Bio-Rad offers a quantitative assay for the determination of Thyroid Stimulating Hormone (TSH) in dried neonatal blood spot specimens, intended for newborn screening for Congenital Hypothyroidism (CH). CH is caused by improper thyroid function. Normally, TSH levels surge after birth, triggering a rise in thyroid hormone. In primary CH, the thyroid gland does not respond to TSH stimulation, resulting in diminished thyroid hormone levels and elevated TSH levels. CH can result in growth failure, deafness, neurological abnormalities and mental retardation. Early treatment is critical to prevent permanent mental retardation and cretinism.

Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

The Quantase G6PD Assay is a rapid, colorimetric assay for the qualitative determination of glucose-6-phosphate dehydrogenase deficiency (G6PD) in dried blood spot specimens. G6PD deficiency is one of the most common hereditary enzyme disorders. The G6PD enzyme is found in most body cells, and its deficiency impairs the stability of red cell membranes, making red cells susceptible to destruction by strong oxidizing agents. Affected persons can develop hemolytic anemia when exposed to certain drugs and foods, such as fava beans. Bio-Rad’s Quantase G6PD assay is free of background interferences associated with fluorometric assay methods. It runs at room temperature and uses dried blood spot specimens, eliminating the need for a red blood cell lysis step.

Automated Microplate Processors

Bio-Rad offers a powerful, fully-automated microplate processing platform, suitable for laboratories of any volume. The Model 1575 Immunowash Microplate Washer automatically aspirates dried blood spots from microplate wells, while simultaneously washing the coated-well microplates. Its compact design includes Integrated vacuum and dispensing pumps ensure accurate and quiet washing. Compatible with flat, U- or V-bottom plates, Model 1575 offers a wide choice of washing methods that can be combined in complex sequences to meet the toughest technical demands. It stores up to 75 user-defined protocols, and adapts to strip or plate wash modes with interchangeable manifolds for 8- and 12-well strips.

Additional features include programmable needle positions for bottom washing, crosswise aspiration and overflow washing. One-half height and power-wash settings are available, along with dispense-speed control and plate-shaking options. Unit includes bottles, tubing, 8-port manifold, manual and aerosol protection cover. Optional 12-port manifold and standard maintenance kit sold separately.

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