Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations

Casandra

Casandra Test Code AR73347Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 0051684CPT Code 81247

Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations

Also known as: G6PD AFRIC

Clinical Use

Order Test

Use

G6PD deficiency is an X-linked genetic disorder that can cause episodic hemolytic anemia, primarily triggered by infections, certain foods, and medications. In newborns, it may lead to life-threatening acute hemolytic anemia with jaundice. This genetic test is crucial for individuals of African descent to detect the single most common pathogenic G6PD variant, the A- allele, offering insights for better management by avoiding known triggers and providing necessary information for family planning and medical consultations.

Special Instructions

Informed consent for genetic testing is recommended, particularly for patients from New York where it is required. The test utilizes whole blood collected in lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B) tubes. It is recommended to refrigerate the specimen during transport, and frozen specimens in glass tubes are unacceptable. Also, patients should be informed about genetic counseling and the need for potential additional testing if suspicions of G6PD deficiency persist despite negative results.

Limitations

The assay specifically detects the c.376A>G and c.202G>A variants in the G6PD gene, which are common within the A- allele. Variants are tested in cis for the A- allele, but the test cannot determine phase, so the concurrent presence of both variants is presumed to represent the A- allele. Only these two targeted variants will be detected, limiting its effectiveness for other G6PD mutations. Diagnostic errors could occur due to rare sequence variants or other technical factors, including results misinterpretation if the patient has undergone allogeneic stem cell transplantation.

Test Details

New York Approved