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Test Code B0009
Test Summary

This biochemical test analyzes the levels of galactose-1-phosphate uridyltransferase enzyme analysis and total galactose

Turn-Around-Time (TAT)* 3  days
Acceptable Sample Types
Dried Blood Spots
Acceptable Billing Types
Self (patient) Payment
Institutional Billing
*TAT starts after the sample and all required sample information is received at PerkinElmer Genomics, or after the benefits investigation is complete if requested for commercial insurance billing.

Individuals with a clinical suspicion of galactosemia.

Galactosemia is a condition that affects how the body processes a simple sugar called galactose. Galactose is present in many foods and is primarily a part of a larger sugar called lactose which is found in all diary products and many baby formulas. The symptoms of galactosemia result from the body's inability to use galactose to produce energy. (NIH, genetics home reference)

Fluorometry is a spectroscopy method that measures the fluorescence of an analyte solution.  The fluorometer uses a beam of light to excite the electrons of the analyte, and the level of fluorescence created is proportionate to the concentration of analyte, thereby making the concentration of the analyte measurable. 

Dried Blood Spots
Collection Container(s):

Dried blood spot card


Follow kit instructions. Briefly, allow blood to saturate card until indicated areas are filled and blood has soaked through card. Air dry card at ambient temperature for at least 3 hours.

  • NBS: Please contact PKIG to request the StepOne® kit.
  • Gene Sequencing: Please contact PKIG to request the DBS collection kit.
  • For pre-punched DBS: The required minimum 6 punches with 3.2 mm or 4 punches 4.75 mm.
Condition: Follow the instructions provided with the collection set. Store the dried blood at ambient temperature for up to two days. If the specimen cannot be sent as soon as it is dry, the filter paper should be placed in a sealable plastic bag and stored in a refrigerator (≤ 8°C) or preferably in a freezer.
Shipping: Follow kit instructions. Double bag and ship overnight at ambient temperature.

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