Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice

_

Glucose-6-phosphate dehydrogenase deficiency Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Glucose-6-phosphate dehydrogenase deficiency from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
Chest X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice
CDC on Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice
Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice in the news
Blogs on Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice
Directions to Hospitals Treating Glucose-6-phosphate dehydrogenase deficiency
Risk calculators and risk factors for Glucose-6-phosphate dehydrogenase deficiency diagnostic study of choice

Other standard tests are DNA testing and sequencing of the G6PD gene.Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mahda Alihashemi M.D. [2] [3] [4] [5] [6]

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

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.

DNA testing and sequencing of the G6PD gene

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.

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]