Galactosemia

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Overview

Galactosemia

Quantase™ Neonatal TGAL and Neonatal GALT Assays

The Bio-Rad Assay

  • Not subject to the interferences commonly observed with fluorescent and bacterial inhibition methods
  • Simplified protocols can be used on most plate readers
  • Rapid results in under 2 hours (Total Galactose) and 3.5 hours (GALT)

Product Highlights

  • Cost effective
  • Easily automated
  • Environmentally friendly, no flammables
  • Rapid procedure

Flexibility for Your Laboratory Needs

Total Galactose

  1. Punch sample
  2. Add 5 µL elution reagent
  3. Incubate at RT for 30 minutes
  4. Vacuum transfer eluate
  5. Add 100 µL enzyme reagent
  6. Incubate at RT for 30 minutes
  7. Add 100 µL color reagent
  8. Incubate at RT for 2 minutes
  9. Read 570 nm and 690 nm

TGALT (Transferase)

  1. Punch sample
  2. Add 200 µL elution reagent
  3. Incubate at 37°C for 3 hours
  4. Transfer 120 µL
  5. Read 550 nm or 570 nm
  6. Add 50 µL enzyme reagent
  7. Incubate at RT for 10 minutes
  8. Read 550 nm or 570 nm

Clinical Background

Galactosemia is an inherited disorder of galactose metabolism, caused by a deficiency in one of three enzymes, the most important being galactose-1-phosphate uridyl transferase. Galactosemia may also be caused by a lack of galactokinase or UDP-galactose-4-epimerase activity.

Long-term consequences of galactosemia include mental retardation, developmental abnormalities, and even death. The worldwide prevalence of galactosemia is estimated to be 1:60,000–1:80,000. The Quantase Neonatal Total Galactose Screening Assay is an enzymatic colorimetric end-point method for the determination of total D(+) galactose in dried-blood spot specimens.

The Quantase Neonatal GALT Assay measures galactose-1-phosphate uridyl transferase activity in neonatal dried-blood spots to screen for galactosemia.

Bio-Rad offers two assays for newborn galactosemia screening: GALT and TGAL.

Bio-Rad's Microplate Neonatal GALT Assay measures galactose-1-phosphate uridyl transferase activity in neonatal dried blood spot samples. It is free of background interferences associated with fluorometric assay methods and not affected by early release from hospital or infant feeding status. The Bio-Rad GALT assay is a replacement for the highly subjective Beutler assay.

The Microplate 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. Recognized as a worldwide market leader in TGAL screening, this assay is easily automated and can be performed with any microplate reader.

Microplate Neonatal GALT Assay — 192 Test Kit

532-6000
Kit for galactose-1-phosphate uridyl transferase assay of dried blood to screen newborns for galactosemia (192 tests)

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Microplate Neonatal GALT Assay — 960 Test Kit

532-6001
Kit for galactose-1-phosphate uridyl transferase assay of dried blood to screen newborns for galactosemia (960 tests)

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Microplate Neonatal GALT Controls

532-6002
Bilevel controls for the microplate neonatal GALT assay

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Microplate Neonatal Total Galactose (TGAL) Assay — 2000 Test Kit

532-6050
Kit for quantitative microplate assay for total D(+)galactose in newborn blood to screen for galactosemia on Whatman 903 paper (2000 tests)

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Microplate Neonatal Total Galactose (TGAL) Assay — 500 Test Kit

532-6054
Kit for quantitative microplate assay for total D(+)galactose in newborn blood to screen for galactosemia on Whatman 903 paper (500 tests)

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Quantity:   Add to Quote