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3004457
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing
G6PD NGS
Ordering Recommendation
Preferred test to detect glucose-6-phosphate dehydrogenase (G6PD) variants in females or any individual with reduced G6PD enzyme activity.
New York DOH Approval Status
Testing is not New York state approved. Specimens from New York clients will be sent out to a New York state-approved laboratory.
Specimen Required
Patient Preparation
Collect
Lavender or pink (EDTA) or yellow (ACD solution A or B).
Specimen Preparation
Transport 3 mL whole blood. (Min: 2 mL)
Storage/Transport Temperature
Refrigerated.
Unacceptable Conditions
Serum or plasma; grossly hemolyzed or frozen specimens; saliva, buccal brush, or swab; FFPE tissue.
Remarks
Stability
Ambient: 72 hours; Refrigerated: 2 weeks; Frozen: Unacceptable
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene Tested: G6PD (NM_001042351)
Hotline History
N/A
CPT Codes
81249
Components
| Component Test Code* | Component Chart Name | LOINC |
|---|---|---|
| 3004458 | Spcm G6PD | 66746-9 |
| 3004459 | G6PD Interp | 21680-4 |
* Component test codes cannot be used to order tests. The information provided here is not sufficient for interface builds; for a complete test mix, please click the sidebar link to access the Interface Map.
Aliases
- G6PD Deficiency
- Hemolytic anemia G6PD sequencing
- Hyperbilirubinemia G6PD sequencing
- RBC G6PD sequencing
Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing
