Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing
Also known as: G6PD NGS
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.
Methodology
NGS
Biomarkers
LOINC Codes
- 21680-4
- 66746-9
- 66746-9
- 21680-4
Result Turnaround Time
10-15 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
2 mL
Container
Lavender or pink (EDTA) or yellow (ACD solution A or B)
Storage Instructions
Refrigerated.
Causes for Rejection
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 72 hours |
| Refrigerated | 2 weeks |
| Frozen | Unacceptable |