Ordering Recommendation

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.

Mnemonic
LEPORE
Methodology

Qualitative Polymerase Chain Reaction/Qualitative Electrophoresis

Performed

Tue, Fri

Reported

7-10 days

New York DOH Approval Status
Specimens from New York clients will be sent out to a New York DOH approved laboratory, if possible.
Specimen Required
Patient Preparation
Collect

Lavender (EDTA) or pink (K2EDTA). Also acceptable: Yellow (ACD Solution A or B), lt. blue (sodium citrate), green (sodium or lithium heparin).

Specimen Preparation

Transport 3 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated.

Unacceptable Conditions
Remarks
Stability

Ambient: 72 hours; Refrigerated: 1 week; Frozen: Unacceptable

Reference Interval

By report

Interpretive Data

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)

Note
Hotline History
N/A
CPT Codes

81479

Components
Component Test Code* Component Chart Name LOINC
2004687 Hemoglobin Lepore 3 Mutations Specimen 31208-2
2004688 Hemoglobin Lepore 3 Mutations 35474-6
* 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.
Aliases
  • HBB HBD fusion testing
  • Hg Lepore mutation assay
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations