Galactosemia Monitoring

Omics test Model
Test Code B0009
Test Summary

This biochemical test analyzes the levels of galactose-1-phosphate uridyltransferase enzyme analysis and total galactose
Turn Around Time 3 days
Acceptable Sample Types Dried Blood Spots
Acceptable Billing Types Institutional Billing , Self (patient) Payment
NY Approved Yes
*TAT starts after the sample and all required sample information is received at the processing laboratory.

**The CPT codes listed are in accordance with Current Procedural Terminology, a publication of the American Medical Association, and are provided for informational purposes only. CPT coding is the sole responsibility of the billing party.

This testing service has not been cleared or approved by the U.S. Food and Drug Administration. Testing services may not be licensed in accordance with the laws in all countries. The availability of specific test offerings is dependent upon laboratory location.
This test is not available in your region Japan, please select your nearest laboratory to request more information.
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Test Inquiry
Test Code: B0009
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General Biochemical and Molecular Requisition Form

Indications for Testing

  • Individuals with a clinical suspicion of galactosemia.

Condition Description

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)

Test Methods and Limitations

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.

Detailed Sample Requirements

Dried Blood Spots
Test Details Page
Collection Container(s) Dried blood spot card
Collection

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

  • NBS: Please contact Revvity Omics to request the StepOne® kit.
  • Gene Sequencing: Please contact Revvity Omics to request the DBS collection kit.
  • For pre-punched DBS: The required minimum is 6 punches
Sample 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.

Resources

General Biochemical and Molecular Requisition Form