Alpha Globin (HBA1 & HBA2) Deletion/Duplication




Test Mnemonic

HBADD

CPT Codes

  • 81269 - QTY (1)

LOINC ®

Not available

Aliases

  • A globin
  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha thalassemia

Performing Laboratory

ARUP


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
3 mLWhole bloodEDTA (Lavender) Refrigerated 

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
2 mL     

Stability

Environmental Condition Description
Ambient72 hours
Refrigerated1 week
FrozenUnacceptable

Days Performed

Varies

Turnaround Time

2 - 3 weeks

Methodology

Name Description
Multiplex Ligation-dependent Probe Amplification 

Clinical Info

Method is a Multiplex ligation-dependent probe amplification (MLPA) of the alpha globin gene cluster (HBZ, HBM, HBA2, HBA1, HBQ1) and its HS-40 regulatory region. Clinical Sensitivity varies by ethnicity, up to 95 %. Analytical Sensitivity and Specificity: 99 %. LIMITATIONS: Deletions/duplications in exon 1 are not reported. Diagnostic errors can occur due to rare sequence variations. Single base pair substitutions, small deletions/duplications, regulatory region mutations, and deep intronic mutations are not detected. The breakpoints of large deletions/duplications are not determined.