Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice: Difference between revisions
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{{Glucose-6-phosphate dehydrogenase deficiency}} | {{Glucose-6-phosphate dehydrogenase deficiency}} | ||
{{CMG}}; {{AE}} {{MA}} | |||
== Overview == | == Overview == | ||
Diagnostic study of choice for G6PD deficiency include quantitative laboratory assay, Beutler fluorescent spot test and [[DNA]] testing for [[mutated]] [[Gene|genes]]. | |||
== Diagnostic Study of Choice == | == Diagnostic Study of Choice == | ||
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Testing for G6PD deficiency may be done in the following settings:<ref name="pmid26417175">{{cite journal |vauthors=Bubp J, Jen M, Matuszewski K |title=Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy |journal=P T |volume=40 |issue=9 |pages=572–4 |date=September 2015 |pmid=26417175 |pmc=4571844 |doi= |url=}}</ref> | Testing for G6PD deficiency may be done in the following settings:<ref name="pmid26417175">{{cite journal |vauthors=Bubp J, Jen M, Matuszewski K |title=Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy |journal=P T |volume=40 |issue=9 |pages=572–4 |date=September 2015 |pmid=26417175 |pmc=4571844 |doi= |url=}}</ref> | ||
* Neonatal jaundice | * [[Neonatal]] [[jaundice]] | ||
* Unexplained hemolytic anemia | * Unexplained [[hemolytic anemia]] | ||
* High risk patients before administration oxidant medications | * High risk patients before administration oxidant medications such as nitrofurantoin | ||
* High risk patients before administering rasburicase for [[tumor lysis syndrome]] | |||
* Asymptomatic family members | * Asymptomatic family members | ||
Quantitative laboratory assay for G6PD enzyme activity | Quantitative laboratory assay for G6PD enzyme activity | ||
Beutler fluorescent spot test is the gold standard test for the diagnosis of G6PD deficiency. This test detects NADPH produced by G6PD under ultraviolet light.<ref name="pmid29262208" /> | Beutler fluorescent spot test is the gold standard test for the diagnosis of G6PD deficiency. This test detects [[NADPH]] produced by G6PD under [[ultraviolet light]].<ref name="pmid29262208">{{cite journal |vauthors=Richardson SR, O'Malley GF |title= |journal= |volume= |issue= |pages= |date= |pmid=29262208 |doi= |url=}}</ref> | ||
DNA testing | DNA testing for [[mutated]] [[Gene|genes]] | ||
===== Diagnostic results ===== | ===== Diagnostic results ===== | ||
* G6PD enzyme activity less than 5 units per gram of hemoglobin in quantitative laboratory assay is considered G6PD deficiency. | * G6PD enzyme activity less than 5 units per gram of [[hemoglobin]] in quantitative laboratory assay is considered G6PD deficiency. | ||
* The following result of Beutler fluorescent spot testis is confirmatory of G6PD deficiency | * The following result of Beutler fluorescent spot testis is confirmatory of G6PD deficiency: | ||
** No fluorescence under ultraviolet light. False negative result in active hemolysis, so this test is done 2-3 weeks after hemolysis. | ** No [[fluorescence]] under [[ultraviolet light]]. False negative result in active [[hemolysis]], so this test is done 2-3 weeks after [[hemolysis]]. | ||
==References== | ==References== | ||
Latest revision as of 23:18, 19 December 2018
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2]
Overview
Diagnostic study of choice for G6PD deficiency include quantitative laboratory assay, Beutler fluorescent spot test and DNA testing for mutated genes.
Diagnostic Study of Choice
Study of choice
Testing for G6PD deficiency may be done in the following settings:[1]
- Neonatal jaundice
- Unexplained hemolytic anemia
- High risk patients before administration oxidant medications such as nitrofurantoin
- High risk patients before administering rasburicase for tumor lysis syndrome
- Asymptomatic family members
Quantitative laboratory assay for G6PD enzyme activity
Beutler fluorescent spot test is the gold standard test for the diagnosis of G6PD deficiency. This test detects NADPH produced by G6PD under ultraviolet light.[2]
Diagnostic results
- G6PD enzyme activity less than 5 units per gram of hemoglobin in quantitative laboratory assay is considered G6PD deficiency.
- The following result of Beutler fluorescent spot testis is confirmatory of G6PD deficiency:
- No fluorescence under ultraviolet light. False negative result in active hemolysis, so this test is done 2-3 weeks after hemolysis.