Glucose-6-Phosphate Dehydrogenase (G6PD) 2 Mutations
Also known as: G6PD AFRIC
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
Not provided.
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.
New York Approved
Methodology
PCR-based (PCR)
Biomarkers
G6PD
Gene
LOINC Codes
- 21681-2 - G6PD gene Mut Tested Bld/T
- 94231-8 - G6PD gene Full Mut Anl Bld/T Seq
- 66746-9 - Specimen type
Result Turnaround Time
4-10 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
1 mL
Container
Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)
Storage Instructions
Preferred transport temp: Refrigerated.
Causes for Rejection
Frozen specimens in glass collection tubes.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 3 days |
| Refrigerated | 1 week |
| Frozen | 1 month |
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