Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
Interpretive DataBackground information for test. May include disease information, patient result explanation, recommendations, details of testing, associated diseases, explanation of possible patient results.
Background Information: Beta Globin (HBB) Sequencing Characteristics: Structural hemoglobinopathies or thalassemias (insufficient or absent beta-chain production). Incidence: Varies with ethnicity. Inheritance: Usually autosomal recessive, infrequently autosomal dominant. Cause: Pathogenic variants in the HBB gene. Clinical Sensitivity: Up to 97 percent, depending upon ethnicity. Methodology: Bidirectional sequencing of the HBB coding regions, intron-exon boundaries, 5' proximal promoter and untranslated region, 3'polyadenylation signal, and intronic variants c.93-21 (IVS-I-110), c.316-197 (IVS-II-654), c.316-146 (IVS-II-705), c.316-106 (IVS-II-745), and c.316-86_316-85 (IVS-II-765 L1). Analytical sensitivity: 99 percent. Limitations: Diagnostic errors can occur due to rare sequence variations. Large deletions and variants in distal regulatory elements are not detected.
CPT CodesThe American Medical Association Current Procedural Terminology (CPT) codes published in ARUP's Laboratory Test Directory are provided for informational purposes only. The codes reflect our interpretation of CPT coding requirements based upon AMA guidelines published annually. CPT codes are provided only as guidance to assist clients with billing. ARUP strongly recommends that clients confirm CPT codes with their Medicare administrative contractor, as requirements may differ. CPT coding is the sole responsibility of the billing party. ARUP Laboratories assumes no responsibility for billing errors due to reliance on the CPT codes published.
* 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.
AliasesOther names that describe the test. Synonyms.
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