TBX5 Gene Mutation Carrier Status (Blood)
This test checks whether you carry a specific mutation in the TBX5 gene, which may be linked to certain heart or skeletal conditions. It’s often done if you have a family history of these conditions or if genetic counseling suggests testing is appropriate.
["Knowing your TBX5 mutation status can help guide family planning and genetic counseling."]
Key facts at a glance
- LOINC
- 38913-0
- Short code
- TBX5 gene Mut Anl Bld/T
- Synonyms
- TBX5 gene 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
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of conditions like Holt-Oram syndrome, a genetic disorder that affects the heart and limbs. It could also be suggested if you’re considering genetic testing for a child or if you’re part of a research study involving genetic screening.
What to Expect Before the Test
You’ll typically have a simple blood draw, similar to other routine blood tests. No special preparation is usually needed, but your provider may ask you to avoid certain medications or foods for a short time before the test.
What the Test Measures
This test analyzes your blood for the presence of a specific mutation in the TBX5 gene. The test looks for changes (mutations) in the DNA sequence that could increase your risk for heart or skeletal abnormalities.
What the Results Mean
Results can be one of two main types: you either carry the mutation or you do not. If you do carry it, this doesn’t mean you’ll definitely develop symptoms, but it may inform discussions about your health risks and family planning.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Carrying the TBX5 mutation may raise the risk of developing conditions like Holt-Oram syndrome, which can affect heart development and bone growth. While many people with the mutation don’t show symptoms, it’s important for genetic counseling and family planning decisions. This test helps identify carriers for further evaluation and support.
Short name
TBX5 Mutation Carrier Test
Frequently asked questions
What does a positive result mean?
Will this test affect my insurance or ability to get health coverage?
How often should I get this 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