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 and the hemoglobin Constant Spring (HbCS) variant.

New York DOH Approval Status

This test is New York state approved.

Specimen Required

Patient Preparation

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

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


Multiplex Ligation-Dependent Probe Amplification (MLPA)/Sequencing




10-14 days
If reflexed, add 5-7 days.

Reference Interval

By report

Interpretive Data

Refer to report.

Compliance Category

Laboratory Developed Test (LDT)


If a concurrent deletion of HBA2 is not identified, PCR and bidirectional sequencing for the HbCS copy number will be performed. Additional charges apply.

Hotline History


CPT Codes

81269; if reflexed, add 81257


Component Test Code* Component Chart Name LOINC
3003657 HBA DDCS Interpretation 55234-9
* 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.


  • A globin
  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha thalassemia
Alpha Thalassemia (HBA1 and HBA2) Deletion/Duplication with reflex to Hb Constant Spring