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

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