Alpha Thalassemia Gene Deletion




Test Mnemonic

ATHALS

CPT Codes

  • 81257 - QTY (1)

Aliases

  • Alpha globin gene analysis
  • Alpha globin mutations
  • Alpha Thal
  • Alpha Thalassemia

Includes

  • Mutations tested:
  • -alpha3.7
  • -alpha4.2
  • -(alpha)20.5
  • --SEA
  • --MED
  • --FIL

Performing Laboratory

Cleveland Clinic Laboratories


Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
4 mLWhole bloodEDTA (Lavender)AmbientAmbient 

Minimum Specimen Requirements

Volume Type Container Collect Temperature Transport Temperature Special Instructions
2 mL    Whole blood

Stability

Environmental Condition Description
Ambient48 hours
Refrigerated7 days
FrozenUnacceptable

Days Performed

1 day per week

Turnaround Time

10 days

Methodology

Name Description
Capillary Electrophoresis (CE) 
Polymerase Chain Reaction (PCR) 

Reference Range

Clinical Info

In approximately 95% of cases, alpha thalassemia is secondary to deletions in the alpha globin gene cluster (HBA1 and HBA2). This assay detects the six most common alpha thalassemia gene deletions (-alpha3.7; -alpha4.2; -(alpha)20.5; --SEA; --MED; --FIL). Rare alpha globin gene deletions, non-deletion mutations, gene duplications and mutations of the regulatory region will not be detected. Analytic sensitivity and specificity: >99%