Genetic analysis of TGFBR1 and TGFBR2 genes (whole blood)
This test checks for mutations in the genes responsible for encoding proteins that help regulate cell growth and repair. Mutations in these genes may increase your risk for certain cancers or other health conditions.
["Genetic testing may help identify inherited risks or confirm suspected genetic conditions related to these genes."]
Key facts at a glance
- LOINC
- 53899-1
- Short code
- TGFBR1+TGFBR2 gene Mut Anl Bld/T
- Synonyms
- TGFBR1+TGFBR2 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 linked to TGFBR1 or TGFBR2 mutations, such as certain types of cancer (e.g., gastrointestinal stromal tumors, lung cancer) or other genetic syndromes. They might also order it if symptoms like abnormal growths, chronic inflammation, or unexplained health issues are present.
What to Expect Before the Test
No special preparation is needed. A simple blood sample will be taken from a vein in your arm. You may feel slight discomfort, but it should be brief. If you’re pregnant or have concerns, discuss them with your provider.
What the Test Results Mean
Results will indicate whether mutations in TGFBR1 or TGFBR2 are present. A positive result means you carry these mutations, which may influence future healthcare decisions, including monitoring, treatments, or genetic counseling.
Common Conditions Linked to These Genes
Mutations in TGFBR1 or TGFBR2 are associated with conditions like **hereditary leiomyomatosis and renal cell cancer (HLRCC)** or **Lhermitte-Duclos disease**, among others. These conditions may affect organ function or increase cancer risk.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying these mutations helps healthcare providers tailor surveillance, risk management, or preventive strategies. Early detection may allow for proactive measures, such as regular screenings or lifestyle adjustments to reduce risks.
Short name
TGFBR1/TGFBR2 Gene Mutation Test
Frequently asked questions
Will this test show all possible genetic risks?
How soon will I get my results?
Can I choose which genes are tested?
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