Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test
Use
The Invitae Glucose-6-Phosphate Dehydrogenase (G6PD) Deficiency Test analyzes the glucose-6-phosphate dehydrogenase (G6PD) gene, which is responsible for an enzyme crucial in carbohydrate production. Deficiency in this enzyme leads to premature breakdown of red blood cells, causing hemolytic anemia. The test is suitable for newborns with jaundice who have family history, certain ethnic backgrounds, or specific treatments. It confirms biochemical analysis results with molecular testing, and is most relevant for individuals of African, Mediterranean, or Southeast Asian descent.
Special Instructions
Ordering requires a minimum of 3mL whole blood in a purple-top EDTA tube, but saliva, buccal swabs, and gDNA specimens are also accepted. Request a specimen collection kit if needed. The test is New York approved, which may imply specific regulatory compliance needs for practitioners in that state.
Limitations
Variants outside defined regions, including structural rearrangements or complex sequences, may not be detected. Sensitivity might be slightly reduced for significant gene insertions and deletions <15bp outside the targeted areas. Resolution may be limited in specific cases, such as structural rearrangements and mosaicism, and the analysis might not reflect the constitutional genome due to recent hematological conditions or treatments. Specific variant types, like those in promoters or non-coding regions, might not be covered unless specified.
New York Approved
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
10-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3mL
Minimum Volume
Not provided
Container
purple-top EDTA tube (K2EDTA or K3EDTA)