Ordering RecommendationRecommendations when to order or not order the test. May include related or preferred tests.
Use for molecular confirmation of a suspected Hemoglobin (Hb) Lepore variant identified by Hb evaluation. Carrier screening for individuals with a family history of Hb Lepore.
Reference IntervalNormal range/expected value(s) for a specific disease state. May also include abnormal ranges.
By report
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 for Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations: Characteristics: Hb Lepore is a hemoglobin variant resulting from a fusion between the delta globin gene (HBD) and the beta globin gene (HBB). Hb Lepore is classified as a beta-plus thalassemia mutation, as it results in reduced beta globin chain synthesis and in its heterozygous form is associated with mild anemia, hypochromic microcytosis, and moderately increased fetal hemoglobin. Incidence: Most common in southern Europeans. Inheritance: Autosomal recessive. Cause: Delta/beta globin gene rearrangements. Mutations tested: Hb Lepore-Washington-Boston (g.63632_71046del), Hb Lepore-Baltimore (g.63564_70978del), and Hb Lepore-Hollandia (g.63290_70702del). Clinical Sensitivity: Unknown. Methodology: Multiplex PCR and gel electrophoresis to detect the three common Hb Lepore mutations. Analytical Sensitivity and Specificity: 99 percent. Limitations: Only the three common Hb Lepore mutations will be detected. Rare diagnostic errors can occur due to primer site mutations.
Compliance Category
Laboratory Developed Test (LDT)
NoteAdditional information related to the test.
Hotline History
N/A
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AliasesOther names that describe the test. Synonyms.