Skip to content

Genetic mutation analysis for the protein encoded by the gene associated with hereditary transthyretin amyloidosis (TTR)

Published: August 9, 2026Updated: August 16, 2026

This test checks for specific genetic changes in the transthyretin (TTR) gene that may increase your risk of developing hereditary transthyretin amyloidosis, a rare but serious condition affecting organs like the heart and nerves.

Quick summary

["This test helps identify if you carry harmful gene mutations linked to a hereditary disorder."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
40962-3
Short code
SFTPC gene Mut Anl Bld/T
Synonyms
SFTPC 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 hereditary transthyretin amyloidosis, symptoms such as heart or nerve problems, or if you’re at higher genetic risk based on other factors.

What to Expect Before the Test

You’ll typically provide a blood sample, which is processed to extract DNA for genetic analysis. No special preparation is needed, but discuss any medications with your provider.

What the Results Mean

Results show whether you carry the specific mutations linked to hereditary amyloidosis. Positive results mean you may need further evaluation, including monitoring or specialized care.

Common Symptoms to Watch For

Hereditary transthyretin amyloidosis often develops gradually, with symptoms like heart failure, nerve damage (e.g., numbness, weakness), or vision changes. Early detection helps manage symptoms better.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

This test is crucial for early diagnosis, allowing for proactive management strategies, including genetic counseling, lifestyle adjustments, or potential treatments to slow disease progression.

Short name

TTR Gene Mutation Screening

Frequently asked questions

What does a positive result mean for my health?
A positive result indicates you carry the specific gene mutations linked to hereditary amyloidosis. This doesn’t mean you’ll definitely develop the condition, but it means you’re at higher risk. Your healthcare team will discuss next steps, such as monitoring, genetic counseling, or lifestyle recommendations.
Will this test affect my insurance or ability to work?
This test is typically covered by insurance if medically necessary, such as for genetic testing related to a family history of hereditary conditions. Results may influence future medical decisions, but they don’t automatically impact employment or insurance status unless required by law.
How often will I need this test?
If you test positive, your healthcare provider may recommend follow-up testing or monitoring based on your symptoms and risk factors. Some people may need periodic checks, while others may only need this test once for baseline assessment.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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.

Medical Disclaimer

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