ARUP's Laboratory Test Directory
| 0051421: Beta Globin Gene Mutations for HbS, HbC, & HbE by PCR |
![[ image for: Patient History for Hemoglobinopathy]](icon_39.jpg){kind=icon} | Patient History for Hemoglobinopathy |
| Test Mnemonic: HB SCE | |
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Methodology: Polymerase Chain Reaction/Fluorescence Resonance Energy Transfer
Performed: Tue, Thu Reported: 7-10 days |
| Specimen Required: | |
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Collect: One 3 mL lavender (EDTA) or pink (K2EDTA).
Transport: 3 mL whole blood at 2-8°C. (Min: 1 mL) Pediatric Collection/Transport: 1 mL whole blood at 2-8°C. Stability: Ambient: 3 days; Refrigerated: 1 week; Frozen: Unacceptable |
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| Reference Interval: |
| By report |
| Interpretive Data: | |
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Background information: 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% of sickle cell disease in the United States (1 in 2000 individuals). Carrier frequency of HbS is 8-10% 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 detected: c.19G>A (HbC), c.20A>T (HbS), c.79G>A (HbE). Clinical Sensitivity: Greater than 70% for sickle cell disease; other hemoglobinopathies vary depending upon patient's ethnicity. Methodology: PCR and fluorescence resonance energy transfer. Analytic Sensitivity: Greater than 99%. Limitations: Mutations other than c.19G>A (HbC), c.20A>T (HbS), c.79G>A (HbE) will not be detected. This test is performed pursuant to an agreement with Roche Molecular Systems, Inc. Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com. Please refer to Statement C in the Compliance Statements section in the front of the Laboratory Test Directory. |
| CPT Code(s): | |
| 83890 Isolation; 83898 x2 Amplification; 83896 x3 Nucleic acid probe; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders. |