Genetic test for detection of pathogenic variants in the *TTR* gene using a nucleic acid probe (serum/plasma specimen)
This test checks for harmful changes (mutations) in the gene that produces transthyretin (TTR), a protein involved in transporting vitamin A and thyroid hormones. Mutations in this gene can lead to rare inherited conditions like familial amyloid polyneuropathy.
["Early detection may help manage symptoms and prevent complications of TTR-related diseases."]
Key facts at a glance
- LOINC
- 106031-8
- Short code
- C trach DNA Prt NAA+probe
- Synonyms
- C trach DNA Prt NAA+probe
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- probe-amp-tar
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you have symptoms of a rare genetic disorder linked to TTR mutations, such as nerve damage, heart problems, or kidney disease. It may also be used in genetic counseling or if you have a family history of similar conditions.
How the Test Works
A small blood sample is taken to extract DNA. A specialized probe detects specific genetic changes in the TTR gene, confirming whether they are present. This is typically done using a molecular technique that identifies DNA sequences precisely.
Sample Collection and Preparation
You will have a blood draw from a vein in your arm. The sample is processed to isolate DNA, which is then analyzed for mutations using the probe method. Results are usually available within a few days.
What to Expect Before the Test
No special preparation is needed, but inform your provider about any medications, supplements, or recent illnesses. Avoid vigorous exercise 24 hours before the test.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Positive results indicate the presence of TTR gene mutations that may cause conditions like familial amyloid polyneuropathy, affecting nerves, heart, or other organs. Negative results mean no detectable mutations in this test. Genetic counseling may still be recommended for further evaluation and risk assessment.
Short name
TTR Gene Mutation Probe Test
Frequently asked questions
What Does a Positive Result Mean?
What Does a Negative Result Mean?
Will This Test Cover All Possible Mutations?
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