Transforming Growth Factor Beta Receptor 1 Gene Mutation Detection (Blood)
This test checks for changes (mutations) in the TGFBR1 gene, which may be linked to certain inherited conditions affecting how your body responds to growth factors.
["Early detection of gene mutations can help guide personalized medical care and risk management."]
Key facts at a glance
- LOINC
- 47972-5
- Short code
- TGFBR1 gene Mut Anl Bld/T
- Synonyms
- TGFBR1 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 fibrodysplasia ossificans progressiva (FOP) or other TGFBR1-related disorders, or if symptoms such as abnormal bone growth, muscle weakness, or developmental delays are present.
What to Expect Before the Test
No special preparation is needed. A blood sample will be drawn from a vein in your arm, similar to other routine blood tests. You may feel a brief pinch, but it usually doesn’t cause significant discomfort.
What the Test Results Mean
Results will indicate whether you have a mutation in the TGFBR1 gene. A positive result means a genetic change is present, which may influence further medical advice or monitoring. A negative result means no detectable mutation was found in this test.
Common Conditions Related to TGFBR1 Mutations
Mutations in TGFBR1 are associated with rare genetic disorders, such as fibrodysplasia ossificans progressiva (FOP), which causes progressive bone formation in soft tissues. Other potential conditions may include developmental delays or skeletal abnormalities.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying TGFBR1 mutations is critical for diagnosing inherited conditions early. It helps healthcare providers tailor treatment plans, monitor symptoms, and manage complications like joint stiffness or muscle weakness. Genetic counseling may also be recommended to discuss family planning and risk for future generations.
Short name
TGFBR1 Gene Mutation Test
Frequently asked questions
Will this test hurt or be uncomfortable?
How long will it take to get my results?
Can I eat or drink before 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