Glucose-6-phosphate Dehyrogenase Deficiency (screening only)

Omics test Model
Test Code B0011
Test Summary

This biochemical test analyzes the level of glucose-6-phosphate dehydrogenase enzyme activity
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.
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Test Code: B0011
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General Biochemical and Molecular Requisition Form

Test Description

Decreased activity of the glucose-6-phosphate dehydrogenase enzyme is associated with glucose-6-phosphate dehydrogenase deficiency.

Indications for Testing

  • Individuals with a clinical suspicion of glucose-6-phosphate dehydrogenase deficiency

Condition Description

Glucose-6-phosphate dehydrogenase deficiency is a genetic disorder that occurs almost exclusively in males. This condition affects red blood cells which carry oxygen from the lungs to tissues throughout the body. A defect in an enzyme called glucose-6-phosphate dehydrogenase causes red blood cells to break down prematurely (hemolysis) which can cause hemolytic anemia. It is estimated that 400 million people worldwide have glucose-6-phosphate dehydrogenase deficiency. (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