Low-Density Lipoprotein Receptor (LDLR) Gene, Full Mutation Analysis — Blood, DNA Sequencing
A blood-based DNA test that checks the LDLR gene for variants that can cause familial hypercholesterolemia and increase the risk of early heart disease.
["This test can identify inherited LDLR gene variants that may cause very high cholesterol and increase cardiovascular risk."]
Key facts at a glance
- LOINC
- 90258-5
- Short code
- LDLR gene Full Mut Anl Bld/T Seq
- Synonyms
- LDLR gene Full Mut Anl Bld/T Seq
- 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
- sequencing
- 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 analyzes DNA from a blood sample for changes, called pathogenic variants, in the LDLR gene. The LDLR gene helps the body remove LDL cholesterol from the blood.
Why might I need this test?
It may be ordered when someone has a high LDL cholesterol level, a family history of high cholesterol or early heart disease, or physical signs that can occur with familial hypercholesterolemia. It can clarify whether an inherited condition is contributing to the cholesterol problem.
How is the test performed?
A healthcare professional draws blood, and laboratory staff analyze the DNA to look for disease-causing changes in the LDLR gene. The results are interpreted in the context of your cholesterol levels, family history, and other clinical findings.
How do I prepare for the test?
Usually, no special preparation is required for a routine blood draw. Follow any instructions from your healthcare professional, and tell the laboratory if you have had a blood transfusion or received a bone marrow transplant, because these can affect DNA testing.
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 variant may indicate heterozygous or homozygous familial hypercholesterolemia, which can cause high LDL cholesterol and early atherosclerosis. A negative result does not exclude all inherited causes of high cholesterol because other genes and factors may be involved. Results should be interpreted by a clinician or genetic counselor alongside the rest of your evaluation.
Short name
LDLR genetic testing
Frequently asked questions
Does this test measure my cholesterol?
What does a positive result mean?
Should relatives 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