Ordering Recommendation

May be used to identify HBB gene deletions associated with beta thalassemia, elevated hemoglobin F (such as in hereditary persistence of fetal hemoglobin [HPFH] or delta beta thalassemia), or to confirm gene fusion hemoglobin variants (e.g., hemoglobin Lepore). Inform the laboratory if patient has received gene therapy; test interpretation may be impacted in such cases. For example, certain gene therapies may impact the performance of this test and interpretation of this result; the presence or absence of variants, zygosity, and HBB gene copy number may not be determined in such cases. Inform the laboratory if patient has received gene therapy by submitting the patient history form linked below.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

Transport 2 mL whole blood. (Min: 1 mL)

Collect

Lavender (EDTA), pink (K2EDTA), or yellow (ACD solution A or B)

Specimen Preparation

Transport 2 mL whole blood. (Min: 1 mL)

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions

Saliva, buccal swab, FFPE tissue, fresh/frozen tissue.

Remarks
Stability

Room Temperature: 1 week; Refrigerated: 1 month; Frozen: Unacceptable

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA) / Capillary Electrophoresis

Performed

Varies

Reported

7-14 days

Reference Interval

Interpretive Data

Refer to report.

Compliance Category

Note

Hotline History

N/A

CPT Codes

81363

Components

Component Test Code* Component Chart Name LOINC
3019877 Beta Globin (HBB) Del/Dup Specimen 31208-2
3019879 Beta Globin (HBB) Del/Dup Interp 83006-7
* 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

Beta Globin (HBB) Deletion/Duplication by MLPA