Alpha-Thalassemia Gene Analysis, Whole Blood
A blood-based genetic test that checks for deletions or mutations involving the alpha-globin genes associated with alpha thalassemia.
["This test can identify inherited changes that may cause alpha thalassemia or an alpha-thalassemia trait."]
Key facts at a glance
- LOINC
- 55234-9
- Short code
- Alpha thalassemia gene Pnl Bld
- Synonyms
- Alpha thalassemia gene Pnl Bld
- Category
- liver
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Ref low
- 44
- Ref high
- 147
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 84075
- SNOMED
- 27550007
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
What is this test?
Alpha-thalassemia gene analysis examines DNA from a blood sample for missing or altered pieces of the alpha-globin genes. These genetic changes can reduce production of hemoglobin, the oxygen-carrying protein in red blood cells.
Why might I need this test?
This test may be used to confirm suspected alpha thalassemia, investigate unexplained anemia or low red-blood-cell counts, assess family members, or evaluate reproductive and pregnancy risks when an inherited blood-cell condition is suspected.
How is the test performed?
A laboratory analyzes DNA extracted from a whole-blood sample using genetic testing methods designed to detect clinically important alpha-globin gene deletions and mutations. Your healthcare professional can explain which type of alpha thalassemia the test can identify.
How do I prepare for the test?
A blood draw usually requires no special preparation. Tell the laboratory if you have received a blood transfusion recently, because donor DNA may affect some genetic test methods.
Reference range
Adult: 44-147 U/LN/A
No special preparation required. Avoid fatty meals before the test if possible.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
A positive result may identify a deletion or mutation in one or more alpha-globin genes. The number and type of affected genes help determine whether the finding represents an alpha-thalassemia trait, a more significant form of alpha thalassemia, or a carrier state.
Results should be interpreted with your blood counts, hemoglobin studies, family history, and other clinical findings by a qualified healthcare professional. A negative result does not exclude every possible genetic cause of anemia.
Short name
Alpha-Thalassemia Genetic Test
Frequently asked questions
Does this test diagnose all forms of alpha thalassemia?
Is this the same as a routine hemoglobin electrophoresis test?
Can family members be tested using the same blood test?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
Click any link to access the full source. PubMed Central (PMC) links provide free full-text access.
This information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy