LDLR Gene Mutation Analysis, Whole Blood — Direct
A genetic blood test that checks for changes in the LDLR gene, which can cause inherited LDL cholesterol disorders such as familial hypercholesterolemia.
["Detecting an LDLR gene variant can help identify inherited high cholesterol and guide family screening and treatment."]
Key facts at a glance
- LOINC
- 56159-7
- Short code
- LDLR gene Mut Anl Bld/T
- Synonyms
- LDLR gene Mut Anl Bld/T
- Category
- lipid
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 0
- Ref high
- 100
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 83721
- SNOMED
- 113079007
- 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 is this test?
This test examines DNA from a blood sample for variants in the LDLR gene. The LDLR gene helps the body remove LDL cholesterol from the bloodstream.
Why might I need this test?
It may be ordered when high LDL cholesterol, early heart disease, or a family history suggests familial hypercholesterolemia. A positive result may also help determine whether relatives should be tested.
How is the test performed?
A laboratory analyzes DNA extracted from your blood to look for selected changes in the LDLR gene. The laboratory may report whether a disease-causing or likely disease-causing variant was detected.
How do I prepare for the test?
This test usually requires a routine blood draw and does not require fasting. Confirm any special preparation or medication instructions with the ordering clinician or laboratory.
Reference range
Optimal: <100 mg/dLN/A
Fasting for 12-14 hours preferred. Water is permitted. Avoid alcohol for 24 hours before the test.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
A pathogenic LDLR gene variant can reduce or prevent LDL receptor function, causing LDL cholesterol to remain unusually high in the blood. This may indicate familial hypercholesterolemia and can increase the risk of early cardiovascular disease. A negative result does not exclude every genetic cause of high cholesterol because other genes and inherited factors may be involved.
Short name
LDLR Gene Mutation Test
Frequently asked questions
Does this test measure my LDL cholesterol?
Who is usually tested for an LDLR gene variant?
Should my family members be tested?
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