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 mL | Whole blood | EDTA (Lavender) | Refrigerated |
Minimum Specimen Requirements
| Volume | Type | Container | Collect Temperature | Transport Temperature | Special Instructions |
|---|---|---|---|---|---|
| 2 mL |
Stability
| Environmental Condition | Description |
|---|---|
| Ambient | 72 hours |
| Refrigerated | 1 week |
| Frozen | Unacceptable |
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.