Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice: Difference between revisions

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VisualWikitext

Latest revision as of 23:18, 19 December 2018

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]

DNA testing for mutated genes

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.

References

↑ Bubp J, Jen M, Matuszewski K (September 2015). "Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy". P T. 40 (9): 572–4. PMC 4571844. PMID 26417175.
↑ Richardson SR, O'Malley GF. PMID 29262208. Missing or empty |title= (help)

Template:WH Template:WS

[pmid26417175-1] Bubp J, Jen M, Matuszewski K (September 2015). "Caring for Glucose-6-Phosphate Dehydrogenase (G6PD)-Deficient Patients: Implications for Pharmacy". P T. 40 (9): 572–4. PMC 4571844. PMID 26417175.

[pmid29262208-2] Richardson SR, O'Malley GF. PMID 29262208. Missing or empty |title= (help)

[1]

[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Glucose-6-phosphate dehydrogenase deficiency}}
-Other standard tests are DNA testing and sequencing of the G6PD gene.<ref name="pmid29262208" />{{CMG}}; {{AE}}{{MA}} [mailto:malihash@bidmc.harvard.edu]
+{{CMG}}; {{AE}} {{MA}}
 == 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 ==
@@ Line 10: / Line 11: @@
 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
-G6PD is suspected in patients with positive family history who develop jaundice and anemia after exposure to any causes. Some laboratory test include:
+Quantitative laboratory assay for G6PD enzyme activity
-* CBC and reticulocyte count (increased retic count in G6PD deficiency)
-* Lactate dehydrogenase: increased in hemolysis
-* Haptoglobin: decreased in hemolysis
-* Urinalysis: hematuria
-* Coombs test (direct antiglobulin test): negative in G6PD deficency
-* Liver enzymes for rulling out other causes of jaundice
-* Urinary hemosiderin
-* Peripheral blood smear: Heinz bodies (denatured hemoglobin)
-*
-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. Other standard tests are DNA testing and sequencing of the G6PD gene.<ref name="pmid29262208">{{cite journal |vauthors=Richardson SR, O'Malley GF |title= |journal= |volume= |issue= |pages= |date= |pmid=29262208 |doi= |url=}}</ref>
+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>
-The following result of Beutler fluorescent spot testis is confirmatory of G6PD deficiency.
+DNA testing for [[mutated]] [[Gene|genes]]
-* No fluorescence under ultraviolet light. False negative result in active hemolysis, so this test is done 2-3 weeks after hemolysis.
-*
-*
-*
-*
-==== The comparison of various diagnostic studies for [disease name] ====
-{|
-|- style="background: #4479BA; color: #FFFFFF; text-align: center;"
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" | Test
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Sensitivity
-! style="background: #4479BA; color: #FFFFFF; text-align: center;" |Specificity
-|-
-! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 1
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-|-
-! style="background: #696969; color: #FFFFFF; text-align: center;" |Test 2
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-| style="background: #DCDCDC; padding: 5px; text-align: center;" |...%
-|}
-<small> [Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity</small>
 ===== Diagnostic results =====
-The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:
+* G6PD enzyme activity less than 5 units per gram of [[hemoglobin]] in quantitative laboratory assay is considered G6PD deficiency.
-* [Finding 1]
-* [Finding 2]
-===== Sequence of Diagnostic Studies =====
-The [name of investigation] must be performed when:
-* The patient presented with symptoms/signs 1, 2, and 3 as the first step of diagnosis.
-* A positive [test] is detected in the patient, to confirm the diagnosis.
-OR
-The various investigations must be performed in the following order:
-* [Initial investigation]
-* [2nd investigation]
-=== Name of Diagnostic Criteria ===
-'''It is recommended that you include the criteria in a table. Make sure you always cite the source of the content and whether the table has been adapted from another source.'''
-[Disease name] is primarily diagnosed based on clinical presentation. There are no established criteria for the diagnosis of [disease name].
-OR
-There is no single diagnostic study of choice for [disease name], though [disease name] may be diagnosed based on [name of criteria] established by [...].
-OR
-The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
-OR
-The diagnosis of [disease name] is based on the [criteria name] criteria, which includes [criterion 1], [criterion 2], and [criterion 3].
-OR
-[Disease name] may be diagnosed at any time if one or more of the following criteria are met:
-* Criteria 1
-* Criteria 2
-* Criteria 3
-OR
-'''IF there are clear, established diagnostic criteria'''
-The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].
-OR
-The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].
-OR
-The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].
-OR
-'''IF there are no established diagnostic criteria'''
-There are no established criteria for the diagnosis of [disease name].
+* 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]].
 ==References==