Beta Globin (HBB) HbS, HbC, and HbE Mutations
0051421
Ordering Recommendation
Order to confirm suspected HbS, HbC, and HbE mutations.
Mnemonic
HB SCE
Methodology
Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Performed
Tue, Thu
Reported
7-10 days  
New York DOH Approval Status
This test is New York DOH approved.
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 Beta Globin (HBB) HbS, HbC, & HbE Mutations:
Characteristics:
Sickle cell disease results in vascular occlusion and tissue ischemia, and acute or chronic organ dysfunction. Milder forms present with hemolytic anemia.
Incidence:
Sickle cell affects 1 in 250-600 African-Americans. HbS causes 60 to 70 percent of sickle cell disease in the United States (1 in 2000 individuals). Carrier frequency of HbS is 8-10 percent in African-Americans. HbS is common in sub-Saharan Africa, India, and the Middle East. HbC is common in West Africa. HbE is common in Southeast Asia.
Inheritance:
Autosomal recessive.
Cause
: Beta globin gene (HbB) missence mutations. The three detected mutations, HbS, HbC, and HbE, have one amino acid change in the beta globin chain. While HbS and HbC result in abnormal beta chain structure, the HbE mutation affects splicing efficiency, resulting in decreased amounts of beta chain.
Mutations Tested:
c.19G>A (HbC), c.20A>T (HbS), c.79G>A (HbE).
Clinical Sensitivity:
Greater than 70 percent for sickle cell disease; other hemoglobinopathies vary depending upon patient's ethnicity.
Methodology:
PCR and fluorescence resonance energy transfer.
Analytic Sensitivity:
Greater than 99 percent.
Limitations:
Mutations other than c.19G>A (HbC), c.20A>T (HbS), c.79G>A (HbE) will not be detected. Diagnostic errors can occur due to rare sequence variations.

This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.





See Compliance Statement C: www.aruplab.com/CS
Statement C: The performance characteristics of this test were validated by ARUP Laboratories. The U.S. Food and Drug Administration (FDA) has not approved or cleared this test; however, FDA approval or clearance is currently not required for clinical use of this test. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions. ARUP is authorized under Clinical Laboratory Improvement Amendments (CLIA) and by all states to perform high-complexity testing.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.
 
Note
 
CPT Code(s)
81401
Components
Component Test Code*Component Chart NameLOINC
0051423Beta Globin Gene Allele 155241-4
0051424Beta Globin Gene Allele 255242-2
0051425Beta Globin (HbS,C,E) Interpretation21689-5
2001314Beta Globin (HbS, C, E) Specimen31208-2
* 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
  • HbS, HbC, HbE muation testing