COL10A1 Gene Mutation Analysis, Blood
This test looks for changes (mutations) in the COL10A1 gene using a blood sample. The COL10A1 gene provides instructions for making a type of collagen found mainly in cartilage.
["A COL10A1 mutation analysis can help identify genetic changes associated with certain skeletal growth disorders."]
Key facts at a glance
- LOINC
- 53851-2
- Short code
- COL10A1 gene Mut Anl Bld/T
- Synonyms
- COL10A1 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 Examines
The test analyzes the COL10A1 gene, which carries the instructions for producing the alpha-1 chain of type X collagen. Type X collagen is a protein found primarily in cartilage, especially in the growth plates of developing bones. Changes in this gene can affect how cartilage and bone develop.
Why It May Be Ordered
A healthcare provider may order this test when a person has signs of a skeletal condition that can be linked to COL10A1 changes, or when there is a family history of such a disorder. Genetic testing can help clarify a diagnosis and inform discussions about inheritance and management.
How the Sample Is Collected
A blood sample is collected, usually from a vein in the arm. In some situations, other sample types may be used at the discretion of the laboratory and ordering provider. The sample is then sent to a specialized genetics laboratory for analysis.
What the Results Mean
Results are reported as either identifying a gene change (a variant) or not identifying one. A detected variant may be classified as disease-causing, uncertain, or benign depending on available evidence. Because interpretation can be complex, results are best discussed with a genetic counselor or the ordering provider.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
COL10A1 variants have been associated with certain rare skeletal disorders affecting cartilage and bone development. Genetic test results should always be interpreted alongside a person's symptoms, physical examination, family history, and other test findings. A positive result does not by itself predict the exact course of a condition, and a negative result may not rule out all possible genetic causes.
Short name
COL10A1 Mutation
Frequently asked questions
Is this test the same as a general genetic panel?
Does a positive result always mean I have a disorder?
Will this test tell me the right treatment for me?
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