Reference Interval:
By report
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| Interpretive Data: |
Background information for Beta Globin (HBB) HbS, HbC and HbE Mutations, Fetal:
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 Tested: 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.
For quality assurance purposes, ARUP Laboratories will provide a confirmation of the above result at no charge. Following delivery, please collect a cord blood sample from the infant in a lavender (EDTA) or yellow (ACD Solution A or B) top tube and transport 1mL cord blood at 2-8 °C. Please specify on the test request form that this is a confirmatory study to be performed at no charge. Please provide the mother's name for specimen identification purposes..
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.
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| CPT Code(s): |
83891 Isolation; 83892 x2 Digestion; 83898 Amplification; 83914 Extension; 83909 Capillary electrophoresis 83912 Interpretation and report. FCC: 83900 Multiplex amplification (first two sequences); 83901 x14 Additional amplification;
83909 Capillaryelectrophoresis. If MCC MAT (0050608) is performed: 83891 Isolation; 83900 Multiplex amplification; 83901 x14 Additional amplification; 83909 Capillary electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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