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Test Code B0011
Test Summary

This biochemical test analyzes the level of glucose-6-phosphate dehydrogenase enzyme activity

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.

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

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

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)

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

Collection:

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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