Skip to content

Genetic mutation analysis for PRF1 (Protein S deficiency-related gene)

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

This test checks for mutations in the PRF1 gene, which may be linked to an inherited blood clotting disorder called thrombotic thrombocytopenic purpura (TTP) or protein S deficiency.

Quick summary

["This test helps identify genetic risks for rare blood disorders that can affect clotting and blood flow."]

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

Key facts at a glance

LOINC
34493-7
Short code
PRF1 gene Mut Anl Amn
Synonyms
PRF1 gene Mut Anl Amn
Category
chemistry
Sample
fluid
Container
Sterile tube
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
CPT
86430
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 doctor may recommend this test if you have a family history of TTP, protein S deficiency, or unexplained blood clots, bleeding problems, or recurrent episodes of severe fatigue, fever, or kidney issues. It may also be done if you’re considering genetic counseling or pregnancy planning.

What to Expect Before the Test

No special preparation is needed. You’ll provide a blood sample, usually drawn from a vein in your arm. The sample is sent to a lab for genetic analysis.

What the Results Mean

Results show whether you have mutations in the PRF1 gene. If mutations are found, they may increase your risk for TTP or protein S deficiency. Your doctor will discuss next steps, such as monitoring or treatment options.

Common Missteps or Confusion

This test is not a routine screening for general health. It’s specific to genetic mutations linked to rare blood disorders. False positives or negatives are rare but possible due to complex genetic testing.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

PRF1 Gene Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result means the test identified mutations in the PRF1 gene. These mutations may increase your risk for TTP or protein S deficiency, which can cause serious blood clotting or bleeding problems. Your doctor will work with you to monitor your health and recommend appropriate care if needed.
What if my results are negative?
A negative result means no obvious mutations were found in the PRF1 gene at this time. However, genetic testing can be complex, and some mutations may not be detected. If you have symptoms or a family history, your doctor may recommend further testing or monitoring.
Can this test be done at home?
No, this test requires a blood sample collected by a healthcare professional in a clinical setting. Genetic testing is typically done in a lab under controlled conditions to ensure accuracy.
  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