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Col15A1 Gene Mutation Status (Blood)

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

This test checks whether you carry a specific mutation in the COL15A1 gene, which may affect collagen production and related connective tissue functions.

Quick summary

["This test helps assess risks for certain connective tissue disorders linked to genetic mutations."]

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

Key facts at a glance

LOINC
38534-4
Short code
COL5A1 gene Mut Anl Bld/T
Synonyms
COL5A1 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 conditions like Ehlers-Danlos syndrome (EDS) or other connective tissue disorders, or if genetic counseling suggests COL15A1 mutations could be relevant to your health.

What to Expect Before the Test

No special preparation is needed. You’ll provide a blood sample, typically drawn from your arm. The test analyzes DNA from your white blood cells to detect the COL15A1 mutation.

What the Results Mean

Results are qualitative (positive/negative) and indicate whether the mutation is present in your DNA. A positive result means you carry the mutation; a negative result means it is not detected in this sample.

Common Conditions Linked to This Mutation

Mutations in COL15A1 are associated with certain forms of Ehlers-Danlos syndrome (EDS), which can affect skin, joints, and blood vessels. Early identification may help guide management strategies.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

Col15A1 Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result means you carry the COL15A1 mutation, which may increase your risk for connective tissue-related conditions like Ehlers-Danlos syndrome. Your healthcare provider will discuss next steps, including genetic counseling and monitoring.
What if my results are negative?
A negative result means the mutation was not detected in this sample. However, some mutations may not be detected by this test alone, so further genetic testing or family screening may still be recommended.
How often should I get this test?
This test is typically done once, unless your healthcare provider recommends repeat testing for ongoing evaluation or family members. Follow-up depends on your clinical situation and provider guidance.
  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