Genetic analysis for hereditary transthyretin amyloidosis (TTR) variant screening
This test checks for specific genetic changes in the transthyretin (TTR) gene that may increase your risk of developing hereditary amyloidosis, a rare but serious condition where abnormal protein builds up in organs.
["Helps identify genetic risk for a rare, progressive disease requiring early management options."]
Key facts at a glance
- LOINC
- 75393-9
- Short code
- HTT gene CAG Rpt Amn/CVS Ql
- Synonyms
- HTT gene CAG Rpt Amn/CVS Ql
- Category
- chemistry
- Sample
- fluid
- Container
- Sterile tube
- Units
- N/A
- Ref low
- 0.8
- Ref high
- 1.2
- Critical range
- — – 5 N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 85610
- SNOMED
- 396252006
- Specimen volume
- 2-5 mL
- Stability
- Room temperature: 2h, Refrigerated: 24h
- Hemolysis max
- 300
- 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 amyloidosis, symptoms like heart failure or nerve damage, or if you’re being evaluated for unexplained organ issues. It’s also used in genetic counseling for at-risk relatives.
What to Expect Before the Test
No special preparation is needed. A blood sample is typically taken from a vein in your arm. If you’re part of a research study or family screening, you may need to provide additional samples or medical history.
What the Test Measures
This test analyzes your DNA to detect mutations in the TTR gene. Certain variants can cause TTR to misfold, leading to amyloid deposits in tissues. The test doesn’t measure protein levels directly but identifies genetic predisposition.
Results and Next Steps
Results will be reviewed by a genetic counselor or specialist. If a mutation is found, you may receive recommendations for monitoring, lifestyle adjustments, or clinical trials. If no mutation is detected, your risk is typically lower but not zero.
Reference range
INR: 0.8-1.2 (warfarin: 2.0-3.0)N/A
Inform your healthcare provider if you are taking blood thinners. No special preparation required.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
TTR Gene Test
Frequently asked questions
Hereditary TTR amyloidosis is rare but can cause heart, nerve, or kidney damage over time. Early detection through genetic testing allows for proactive management, including monitoring, medications, or preventive strategies tailored to your risk profile.
A positive result indicates you carry a TTR gene mutation linked to hereditary amyloidosis. This doesn’t mean you’ll develop symptoms immediately, but it means you’re at higher risk. Your provider will discuss next steps, such as regular check-ups or genetic counseling.
No, this test is a genetic screening tool. To diagnose amyloidosis, additional tests like a biopsy or imaging studies are needed to confirm protein deposits in organs.
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