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Thalassemia trait genetic screening (beta-globin gene mutation analysis, serum/plasma)

Published: August 9, 2026Updated: August 16, 2026

This test checks for genetic variations in the beta-globin gene, which may be linked to thalassemia—a blood disorder that affects how your body makes hemoglobin.

Quick summary

["Helps identify inherited risks for thalassemia, guiding future medical decisions."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
35306-0
Short code
TTR allele2 Bld/T
Synonyms
TTR allele2 Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Ref low
20
Ref high
400
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
CPT
82670
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

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you or your family have a history of thalassemia, or if you’re considering pregnancy and want to assess genetic risks for your child.

What to Expect During the Test

A small blood sample is drawn from your arm. The sample is then analyzed to detect specific genetic mutations in the beta-globin gene, which produce hemoglobin.

How the Results Are Used

Results help determine if you carry a mutation that could affect your blood health or that of your offspring. This information can inform decisions about prenatal testing, family planning, or monitoring.

What to Do Next

If mutations are found, your doctor will discuss next steps, which may include further genetic counseling or additional testing depending on your health history and family background.

Reference range

Premenopausal: 20-400 pg/mL; Postmenopausal: <30 pg/mLN/A

Specimen: whole-blood

No special preparation usually required. Stay well hydrated. Inform your healthcare provider of all medications and supplements you are taking.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Thalassemia genetic screening

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a beta-globin gene mutation linked to thalassemia. This does not mean you will develop thalassemia symptoms, but it may mean you carry a risk for passing the mutation to your children.
Will this test affect my insurance or ability to get treatment?
This genetic screening test is typically covered by insurance if medically necessary, such as for prenatal testing or family planning. However, coverage for follow-up care or treatments depends on your specific diagnosis and insurance policy—always confirm with your provider.
Can I get this test if I’m not pregnant or planning a pregnancy?
Yes, this test can be performed at any time, even if you’re not pregnant. It’s often recommended for individuals with a family history of thalassemia or those considering genetic counseling for reproductive decisions.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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.

Medical Disclaimer

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