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Test Name:
Beta Globin (HBB) HbS, HbC, and HbE Mutations
- SBMF No:
44989 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
HB SCE - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83896x3; 83898x2; 83912 - Ref Lab Test No:
0051421 - Also Known As:
Beta Thalassemia - Spec Type:
Whole blood - Spec Container:
Lavender top (EDTA) or Pale Yellow top (ACD-A or B) tube - Pref Vol:
3.0 mL - Min Vol:
1.0 mL - Fasting:
No - Patient Prep:
Counseling and informed consent are recommended for genetic testing
Forms required:
Patient History for Hemoglobinopathy/Thalassemia Testing
Informed Consent for Molecular Genetic Testing - Spec Collect:
Routine venipuncture - Spec Process:
Gently invert tube to mix blood with the anticoagulant
Do not centrifuge
Do not remove plasma from cells
Forward entire tube of unprocessed whole blood to the laboratory - Spec Store Transport:
Refrigerated - Spec Stability:
3 days room temperature (20-30°C)
1 week refrigerated (2-8°C)
Frozen (-20°C): Unacceptable - Spec Reject:
Frozen specimen - Methodology:
Polymerase Chain Reaction (PCR)
Fluorescence Resonance Energy Transfer - Clinical Significance:
Refer to:
- Reference Range:
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. - Additional Test Info:
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc
Genetic Compliance Statement: 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.
- Day Run:
Tue, Thu - Time Reported:
8-11 days - Test Type:
GENETIC
