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Marfan syndrome genetic mutation detection (MARF)

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

This test checks for specific genetic changes linked to Marfan syndrome, a condition affecting connective tissue and potentially causing long limbs, heart issues, or eye problems.

Quick summary

["Marfan syndrome is an inherited condition; this test helps determine if you carry the gene mutation."]

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

Key facts at a glance

LOINC
107040-8
Short code
T-ALL MRD detection Mar FC
Synonyms
T-ALL MRD detection Mar FC
Category
chemistry
Sample
serum
Container
Red-top tube (SST)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
flow-cytometry
CPT
86430
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 doctor may recommend this test if you have symptoms of Marfan syndrome (e.g., tall stature, lens dislocation, or family history) or if you’re considering genetic counseling. It’s also used for prenatal testing if Marfan syndrome is suspected in a pregnancy.

What to Expect Before the Test

No special preparation is needed. A blood sample will be taken from a vein in your arm. If testing is done during pregnancy, a blood sample or amniotic fluid sample may be collected.

What the Test Results Mean

Positive results indicate the presence of the specific genetic mutation associated with Marfan syndrome. Negative results mean the mutation is not detected in this sample, but other genetic tests or clinical evaluations may still be needed.

Common Causes for Testing

Testing is typically ordered for individuals with a family history of Marfan syndrome, unexplained symptoms, or those undergoing genetic counseling for inherited conditions.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

MARF Mutation Test

Frequently asked questions

How accurate is this test?
This test is highly sensitive and specific for the specific mutation tested, but it may not detect all possible genetic variations linked to Marfan syndrome. False negatives can occur if the mutation is not present in the sample or if other genetic factors are involved.
Can this test be used for prenatal diagnosis?
Yes, this test can be used in prenatal settings, such as through amniocentesis or chorionic villus sampling, to check for the mutation in a fetus if Marfan syndrome is suspected.
What if the test is positive?
A positive result means you carry the mutation and may be at risk for Marfan syndrome. Your doctor will discuss next steps, which may include monitoring for symptoms, genetic counseling, and potential preventive measures.
  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