COL4A3 Gene Mutation Analysis, Whole Blood
This test analyzes the COL4A3 gene, typically from a whole-blood sample, to look for genetic changes (mutations) that can affect collagen type IV, a protein important for kidney function. It is used to help evaluate inherited kidney conditions such as Alport syndrome.
["A COL4A3 gene mutation analysis detects genetic variants in a gene that supports kidney structure, helping clinicians evaluate inherited kidney disease."]
Key facts at a glance
- LOINC
- 101953-8
- Short code
- COL4A3 gene Mut Anl Bld/T
- Synonyms
- COL4A3 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
What This Test Looks At
The COL4A3 gene provides instructions for making part of collagen type IV, a protein that forms a key structural network in the kidneys and other tissues. Genetic testing examines this gene for changes (variants or mutations) that may alter the protein's function. The analysis is performed on a whole-blood sample, from which DNA is extracted.
Why It May Be Ordered
Clinicians may order this test when a person has signs of an inherited kidney disorder, such as blood or protein in the urine, declining kidney function, or a family history of kidney disease. It can help identify a genetic cause for conditions like Alport syndrome, which affects the kidneys' filtering membranes.
How the Sample Is Collected
A standard blood draw is used to collect a whole-blood specimen. The DNA from your blood cells is then analyzed in the laboratory for changes in the COL4A3 gene. No special preparation is usually required, but follow any instructions provided by your care team.
What Results Can Mean
Results are interpreted by your healthcare provider together with your symptoms, family history, and other tests. A finding of a genetic variant may support a diagnosis or inform family screening, while a negative result does not always rule out a genetic condition. The significance of any variant depends on the specific change and is best discussed with a genetic counselor or specialist.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
COL4A3 changes are associated with inherited kidney disorders, most notably Alport syndrome, which can affect kidney function and sometimes hearing and vision. Identifying a mutation can guide diagnosis, monitoring, and screening of at-risk family members. Genetic test results should always be interpreted in the full clinical context by a qualified healthcare professional.
Short name
COL4A3 Gene Mutation
Frequently asked questions
Why was this genetic test ordered?
Does a negative result mean I do not have a genetic kidney condition?
Will I need genetic counseling?
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