In Vitro Diagnostic Mutation Analysis of Beta-Like Globin Genes (e.g., HBB)
This test checks for genetic mutations in the genes responsible for producing hemoglobin, the protein in red blood cells that carries oxygen. Mutations in these genes can lead to blood disorders like sickle cell disease or thalassemia.
["Helps identify inherited blood disorders that may affect your health or require monitoring."]
Key facts at a glance
- LOINC
- 82518-2
- Short code
- IVD Mut Anl Bld/T
- Synonyms
- IVD Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 3 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 4–24 hours
- Order
- routine
What This Test Measures
The test analyzes specific regions of the HBB gene (and related globin genes) for known mutations. These mutations can alter how hemoglobin is made, potentially causing conditions like sickle cell anemia or alpha/beta thalassemia. The method involves DNA sequencing to detect changes in the genetic code.
Why It’s Done
Doctors may recommend this test if you have a family history of hemoglobin disorders, symptoms like fatigue, anemia, or unusual blood test results, or if you’re considering pregnancy and there’s a risk of passing on a genetic condition.
Sample Collection and Preparation
A blood sample is typically taken from a vein in your arm. The blood is processed to isolate DNA, which is then analyzed for mutations. This test is usually done on whole blood but may also be performed on dried blood spots or other genetic samples if needed.
Preparation for the Test
No special preparation is usually required, but you may be asked to fast for a few hours before the blood draw if instructed by your healthcare provider. Avoid smoking or consuming certain medications that could affect test results.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Detecting mutations in the HBB gene is critical for diagnosing inherited blood disorders early. Early identification allows for better management, including genetic counseling, prenatal testing, or preventive measures. Some mutations may also influence treatment decisions, such as blood transfusions or enzyme replacement therapies in certain cases.
Short name
Beta-Globin Gene Mutation Screening
Frequently asked questions
What does this test tell me about my health?
Will I need to do anything special before or after this test?
Could this test affect my treatment options?
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