Genetic analysis of a specific DNA region for the detection of a particular genetic variant associated with beta-thalassemia (e.g., CAG repeat expansion in the HBB gene region)
This test checks for a genetic change linked to a blood disorder called beta-thalassemia by examining a specific DNA sequence in your blood.
["This test helps identify a genetic risk for a blood condition that may require monitoring or treatment."]
Key facts at a glance
- LOINC
- 32565-4
- Short code
- Deprecated SCA3 gene.CAG Rpt Bld/T Ql
- Synonyms
- Deprecated SCA3 gene.CAG Rpt Bld/T Ql
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 0.8
- Ref high
- 1.2
- Critical range
- — – 5 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 85610
- SNOMED
- 396252006
- 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
This test looks for a specific pattern of repeating units (CAG repeats) in a gene that controls how your body makes hemoglobin, the protein in red blood cells that carries oxygen. Too many or too few repeats can affect how well your blood cells function.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of beta-thalassemia, symptoms of anemia, or if you’re considering pregnancy and there’s a risk of passing this genetic trait to your child.
What to Expect Before the Test
No special preparation is needed. A small blood sample will be taken, usually from your arm, similar to other routine blood tests. The sample is then sent to a lab for genetic analysis.
What the Results Mean
Results will indicate whether the genetic variant is present. If it is, this may influence future medical decisions, such as genetic counseling or monitoring for potential symptoms.
Reference range
INR: 0.8-1.2 (warfarin: 2.0-3.0)N/A
Inform your healthcare provider if you are taking blood thinners. No special preparation required.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance: This test is primarily used to diagnose or screen for beta-thalassemia, a genetic blood disorder that can cause anemia. Detecting the genetic variant early can help guide treatment options, family planning, and ongoing medical management.
Frequently asked questions
What does this test involve exactly?
Will I need to do anything special before the test?
How long will it take to get my results?
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