Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations

2004686
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Negative
Positive
COMPONENT DESCRIPTION TEST TYPE INFECTIOUS UNIT OF MEASURE NUMERIC MAP LOINC
2004687
Hemoglobin Lepore 3 Mutations Specimen
Resultable
N
31208-2
2004688
Hemoglobin Lepore 3 Mutations
Resultable
N
35474-6

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Additional Technical Information

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Patient History for Hemoglobinopathy/Thalassemia Testing

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Test not New York DOH approved at any laboratory. An approved NPL form must accompany specimen.
Ordering Recommendation

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 Statement C: For human genetic inheritable conditions and mutations. This test was developed and its performance characteristics determined by ARUP Laboratories. The U. S. Food and Drug Administration has not approved or cleared this test; however, FDA clearance or approval is not currently required for clinical use. The results are not intended to be used as the sole means for clinical diagnosis or patient management decisions.

Counseling and informed consent are recommended for genetic testing. Consent forms are available online.

Note
Hotline History
N/A
CPT Codes

81479

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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