| Interpretive Data: |
Background Information for Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations:
Characteristics: Neonatal jaundice, episodes of acute hemolytic anemia in response to oxidative stress such as infection, medication, and fava beans.
Drug Sensitivities: Adriamycine and other anthracycline chemotherapy agents, Dapsone, Flutamide, Mafenide cream, Methylene blue, Nalidixic acid, Nitrofurantoin, Phenazopyridine, Primaquine, Rasburicase, Sulfacetamide, Sulfamethoxazole, and Sulfanilamide.
Incidence: 1 in 10 males of African descent; less common in other ethnicities.
Inheritance: X-linked recessive.
Cause: Deleterious mutations in only the Glucose-6-Phosphate Dehydrogenase (G6PD) gene.
Mutations Tested: A376G and G202A (A- allele: both mutations present in cis; A+ allele: A376G alone; G202A is rarely if ever seen alone).
Clinical Sensitivity: 99 percent in individuals of African descent.
Methodology: Allele-specific hydrolysis probes (TaqMan®) and fluorescent monitoring.
Analytical Sensitivity and Specificity: 99 percent.
Limitations: Only the two G6PD gene mutations targeted (A376G and G202A) will be detected; analytical sensitivity may be affected by rare primer or probe site mutations.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
See Compliance Statement C: www.aruplab.com/CS
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| Note: |
This assay detects the following mutations: A376G and G202A in the G6PD gene.
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| CPT Code(s): |
81479
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Cross References: |
G-6-PD Mutations, African Alleles (Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations)
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