Ordering Recommendation

Preferred first-tier genetic test for confirmation of suspected alpha thalassemia or alpha thalassemia trait. Use to detect common as well as rare and novel deletions or duplications of the alpha globin gene cluster.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation
Collect

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

Specimen Preparation

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

Storage/Transport Temperature

Refrigerated. Also acceptable: Ambient.

Unacceptable Conditions
Remarks
Stability

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

Methodology

Multiplex Ligation-Dependent Probe Amplification (MLPA)

Performed

Varies

Reported

7-14 days

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)

Note

Hotline History

N/A

CPT Codes

81269

Components

Component Test Code* Component Chart Name LOINC
2011623 Alpha Globin (HBA1/2) DelDup Specimen 31208-2
2011624 Alpha Globin (HBA1/2) DelDup Interp 90040-7
* 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

  • A globin
  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha thalassemia
Alpha Globin (HBA1 and HBA2) Deletion/Duplication