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Test Name:
Beta Globin (HBB) Sequencing
- SBMF No:
44978 - Performance Lab Name:
ARUP Laboratories - Test Mnemonic:
BGSEQ - ABN:
Required – Not FDA-Approved - CPT Code:
83891; 83894; 83898x4; 83904x3; 83909; 83912 - LOINC Code:
21689-5 - Ref Lab Test No:
0050578 - Also Known As:
Beta Globin Sequencing - 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:
Informed Consent for Molecular Genetic Testing
Patient History for Hemoglobinopathy/Thalassemia 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)
Sequencing - Clinical Significance:
Refer to:
- Reference Range:
Normal: This specimen has a normal sequence of the b-globin gene. No mutations were identified within the b-globin coding region, the intron/exon splice site boundaries or intronic positions IVS-II 654, IVS-II 705, and IVS-II 745. Gene deletions or mutations causing thalassemias or hemoglobinopathies outside of these regions will not be identified.
Interpretive Data:
Background Information:
Characteristics: Mutations can result in ß+ or ß thalassemias (insufficient or absent beta chain production, respectively) as well as structural hemoglobinopathies.
Incidence: Varies with ethnicity.
Inheritance: Usually autosomal recessive, infrequently autosomal dominant.
Cause: Mutations in the HBB gene.
Mutations tested: The complete protein coding sequence with exon/intron boundaries, proximal promoter, 5' and 3' untranslated regions, and intronic mutations IVS-II-654, IVS-II-705 and IVS-II-745 and the 619del common in the Asian Indian population.
Clinical Sensitivity: Up to 97 percent, depending upon ethnicity.
Methodology: PCR amplification followed by bidirectional sequencing. For 619del, PCR followed by gel electrophoresis.
Analytical sensitivity: 99 percent
Limitations: Specificity may be compromised by rare primer site mutations. Large-scale deletions or mutations in distal regulatory elements, such as the locus control region, will not be detected.This test is performed pursuant to an agreement with Roche Molecular Systems, Inc
- Additional Test Info:
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:
Varies - Time Reported:
2-3 weeks - Test Type:
GENETIC
