Transforming Growth Factor Beta Receptor 2 Gene Mutation Detection (Whole Blood)
This test checks for mutations in the TGFBR2 gene, which may be linked to certain inherited conditions affecting how your body processes signals that regulate cell growth and repair.
["This test helps identify genetic changes that could influence health risks related to TGFBR2-related disorders."]
Key facts at a glance
- LOINC
- 47973-3
- Short code
- TGFBR2 gene Mut Anl Bld/T
- Synonyms
- 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 like Costello syndrome, Cardio-Facial-Cutaneous syndrome, or other TGFBR2-associated disorders. It may also be used in genetic counseling or pre-symptomatic screening for individuals at risk.
What to Expect Before the Test
No special preparation is needed. You’ll provide a small sample of whole blood drawn from your arm, similar to a regular blood draw. The sample is processed to detect genetic mutations in the TGFBR2 gene.
What the Test Results Mean
Results will indicate whether mutations in the TGFBR2 gene are present. A positive result means the mutation is detected, which may help guide further medical evaluation or management. A negative result means no detectable mutation in this sample.
Common Conditions Linked to TGFBR2 Mutations
Mutations in TGFBR2 are associated with rare genetic syndromes that can affect growth, development, and organ function. These conditions may include physical features, growth delays, and organ abnormalities.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance: Genetic Testing for TGFBR2 Mutations
Short name
TGFBR2 Mutation Test
Frequently asked questions
What does a positive result mean for my health?
Will this test show all possible mutations in my TGFBR2 gene?
Can I have this test if I don’t have symptoms?
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