Test ID: G6PDB    
Glucose-6-Phosphate Dehydrogenase (<i>G6PD</i>) Full Gene Sequencing, Varies

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Useful For Suggests clinical disorders or settings where the test may be helpful

Genetic test for individuals at high risk for glucose-6-phosphate dehydrogenase (G6PD) deficiency

 

Aiding in the diagnosis of G6PD deficiency

 

Determining G6PD deficiency status in individuals with inconclusive or unexpected phenotyping results

 

Differentiation of heterozygous females with skewed X-inactivation from homozygous and compound heterozygous females

 

Definitive diagnosis of carrier status in females

 

Evaluation of neonates (particularly males) with unexplained jaundice

 

Identifying individuals at risk of drug-induced acute hemolytic anemia (AHA) related to G6PD deficiency

Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a very common X-linked condition, impacting about 400 million people worldwide. Both males and females may be impacted due to how common G6PD deficiency is in the population.

 

Several medications, including rasburicase, methylene blue and dapsone, result in acute hemolytic anemia (AHA) when taken by individuals with G6PD deficiency.

 

FDA labeling and Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines recommend that G6PD testing be undertaken in high-risk populations before prescribing drugs known to cause AHA. Knowing a patient's genotype is generally sufficient to avoid contraindicated drugs, but follow-up with the phenotyping enzyme assay may be necessary to clarify results in some cases.

 

This test involves full gene sequencing of all exons and intron/exon boundaries of the G6PD gene. A comprehensive interpretation will be provided including congenital and pharmacogenomic implications of results. Testing should be considered before prescribing medication associated with hemolysis in individuals with G6PD deficiency.

Testing Algorithm Delineates situations when tests are added to the initial order. This includes reflex and additional tests.

The following are available in Special Instructions:

-G6PD Genotyping Algorithm for Therapeutic Drug Recommendations

-Newborn Screen Follow-up for Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency

-Newborn Screening Act Sheet Glucose-6-Phosphate Dehydrogenase Deficiency

Special Instructions Library of PDFs including pertinent information and forms related to the test

Method Name A short description of the method used to perform the test

Polymerase Chain Reaction (PCR) followed by DNA Sequence Analysis

NY State Available Indicates the status of NY State approval and if the test is orderable for NY State clients.

Yes

Reporting Name Lists a shorter or abbreviated version of the Published Name for a test

G6PD Full Gene Sequencing

Aliases Lists additional common names for a test, as an aid in searching

G6PD
Glucose-6-phosphate dehydrogenase deficiency.
Hemolytic anemia
Favism
hemolytic anemia