Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing

Casandra

Casandra Test Code AR24091Version 1 (DRAFT)

Performing Lab

Lab ARUP LaboratoriesLab Test ID 3004457CPT Code 81249

Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing

Also known as: G6PD NGS

Clinical Use

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Use

The G6PD Sequencing test is primarily used to detect variants associated with glucose-6-phosphate dehydrogenase deficiency. This X-linked genetic disorder can lead to hemolytic anemia, especially under situations that cause oxidative stress, such as infections, certain foods, and medications. The test provides crucial information for managing patients who are at risk for acute hemolytic anemia, particularly in newborns, and offers insight into genetic counseling for affected families.

Special Instructions

Consent is required, especially for patients from New York, as specimens from such patients will be processed by a New York state-approved laboratory. The test requires a G6PD Deficiency Testing Patient History Form and informed consent for genetic testing. It is important to avoid known environmental triggers to manage G6PD deficiency effectively.

Limitations

The test has limitations in detecting all possible variants, including those in non-coding regions, deep intronic variants, and large deletions or duplications. Mosaic or somatic variants, gene conversion events, and other complex genetic rearrangements are not detected. Technical limitations might affect variant identification in regions with pseudogenes or repetitive sequences. It is not intended to diagnose low-level mosaic conditions or detect repeat expansions.

Test Details