In simple words: This test analyzes the entire G6PD gene to check for changes. It helps doctors diagnose G6PD deficiency, a condition that can cause red blood cells to break down, leading to anemia and jaundice, particularly after taking certain medications. This test can help identify whether you have the condition or if you might pass it on to your children.

This code represents a full gene sequence analysis of the G6PD gene, including all analytical steps involved. It's commonly used to help diagnose G6PD deficiency, which may manifest through symptoms of drug-induced acute hemolytic anemia (AHA) when patients take certain medications. It is also used to determine carrier status or explain neonatal jaundice.

Example 1: A male newborn experiences unexplained jaundice. The physician orders a G6PD full gene sequence analysis to determine if G6PD deficiency is the underlying cause., A female patient is planning to start a medication known to cause hemolytic anemia in individuals with G6PD deficiency. The physician orders the test to determine if she has the deficiency or is a carrier., A patient with a family history of G6PD deficiency is experiencing symptoms of anemia. A full gene sequence analysis is ordered to confirm the diagnosis and identify the specific genetic variant.

Documentation should include the reason for testing, relevant clinical findings (such as anemia, jaundice, or medication exposure), family history, and the specimen source. Any prior G6PD testing should also be noted.

** Distinct from G6PD common variant testing (81247) and known familial variant testing (81248). Specimen collection (e.g., 36415) can be billed separately. Physician interpretation and report can be billed separately using G0452 with modifier 26.