Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice

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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]

Diagnostic Study of Choice

Study of choice

Testing for G6PD deficiency may be done in the following settings:

• Neonatal jaundice
• Unexplained hemolytic anemia
• High risk patients before administration oxidant medications.
• 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:

• 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

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.

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.

screening method includes a rapid fluorescent spot test to detect the generation of NADPH from NADP. Screening can also be performed by a quantitative spectrophotometric analysis.

[Name of the investigation] must be performed when:

• The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
• A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.

OR

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The diagnostic study of choice for [disease name] is [name of the investigation].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].

OR

[Disease name] is primarily diagnosed based on the clinical presentation.

OR

Investigations:

• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

The comparison of various diagnostic studies for [disease name]

Test	Sensitivity	Specificity
Test 1	...%	...%
Test 2	...%	...%

[Name of test with higher sensitivity and specificity] is the preferred investigation based on the sensitivity and specificity

Diagnostic results

The following finding(s) on performing [investigation name] is(are) confirmatory for [disease name]:

• [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].