Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing
2007163
Ordering Recommendation
Preferred genetic test for individuals of high-risk ethnic backgrounds other than those of African descent. For initial screening for GP6D deficiency, refer to Glucose-6-Phosphate Dehydrogenase 0080135.
Mnemonic
G6PD FGS
Methodology
Polymerase Chain Reaction/Sequencing
Performed
Varies
Reported
21-28 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 (EDTA), pink (K2EDTA), or yellow (ACD Solution A or B).  
Specimen Preparation
Transport 3 mL whole blood. (Min: 1 mL)  
Storage/Transport Temperature
Refrigerated  
Unacceptable Conditions
  
Remarks
  
Stability
Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable  
Reference Interval
By report  
Interpretive Data
Background Information for Glucose-6-Phosphate Dehydrogenase Deficiency (G6PD) Sequencing:
Characteristics:
G6PD deficiency can cause chronic hemolytic anemia, food-, drug-and infection-mediated hemolytic anemia, and acute hemolytic anemia with jaundice in the newborn-which can be potentially life-threatening. Ethnic-specific variants are common in individuals of African, Southeast Asian and Mediterranean descent. Most mutations identified to-date have been classified according to the following scheme: Class I-severe enzyme deficiency with chronic non-spherocytic hemolytic anemia (CNSHA); Class II-severe enzyme deficiency with less than 10 percent of the normal activity; Class III-mild to moderate enzyme deficiency (10 to 60 percent of normal activity); and Class IV-very mild to almost normal enzyme activity (greater than 60 percent normal activity with no clinical consequences).
Incidence:
Varies by ethnicity. 7 in 10 Kurdish Jewish males; 1 in 6 to 10 African American males; 1 in 7 to 9 Arabic males; 1 in 6 to 16 Southeast Asian males.
Inheritance:
X-linked recessive.
Penetrance:
Variable depending on mutation and sex.
Cause:
Pathogenic mutations in Glucose-6-Phosphate Dehydrogenase (G6PD) gene.
Clinical Sensitivity:
Expected greater than 98 percent.
Methodology:
Bidirectional sequencing of the entire G6PD coding region and intron-exon boundaries.
Analytical Sensitivity and Specificity:
99 percent.
Limitations:
Diagnostic errors can occur due to rare sequence variations. Regulatory region mutations, deep intronic mutations, and large deletions/duplications will not be detected. Mutations in genes other than G6PD are not evaluated.



Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.

See Compliance Statement C: www.aruplab.com/CS  
Note
 
CPT Code(s)
81479
Components
Component Test Code*Component Chart Name
2007164G6PD Deficiency (G6PD) Seq Specimen
2007165G6PD Deficiency (G6PD) Seq Interp
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Aliases
  • G-6-PD Deficiency (G6PD) Sequencing
  • G6PD Sequencing
  • Hemolytic Anemia (G6PD) Sequencing
  • Hyperbilirubinemia (G6PD) Sequencing
  • RBC G6PD sequencing