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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.
Methodology
Massively Parallel Sequencing
Performed
Varies
Reported
10-15 days
New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
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
Reference Interval
By report
Interpretive Data
Refer to report.
Compliance Category
Laboratory Developed Test (LDT)
Note
Gene Tested: G6PD (NM_001042351)
Hotline History
Hotline History
Date of Change
Test Name Change
Methodology
Performance/Reported Schedule
Specimen Requirements
Reference Interval
Interpretive Data
Note
CPT Code
Component Change
Other Interface Change
New Test
Inactive
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
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