Apolipoprotein B (APOB), LDL Receptor (LDLR), and PCSK9 Gene Mutation Analysis, Blood
A blood-based genetic test that examines the APOB, LDLR, and PCSK9 genes for variants that can cause familial hypercholesterolemia.
["This test looks for inherited gene variants that may raise LDL cholesterol and increase the risk of cardiovascular disease."]
Key facts at a glance
- LOINC
- 68467-0
- Short code
- APOB+LDLR+PCSK9 gene Mut Anl Bld/T
- Synonyms
- APOB+LDLR+PCSK9 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 analyzes DNA from a blood sample for variants in the APOB, LDLR, and PCSK9 genes. These genes help regulate how the body transports and removes LDL cholesterol.
Why might I need this test?
It may be ordered when high LDL cholesterol, low HDL cholesterol, or a family history of early heart disease suggests an inherited cholesterol disorder. Results can help guide treatment and testing for relatives.
How is the test performed?
A healthcare professional draws blood, and laboratory staff analyze its DNA for clinically relevant variants in the three genes. The laboratory reports whether a variant was detected and provides an interpretation when appropriate.
How do I prepare for the test?
Fasting is generally not required for this blood-based genetic test unless your healthcare professional gives other instructions. Tell the laboratory if you have received a blood transfusion or 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 detected disease-causing variant may indicate familial hypercholesterolemia, a genetic condition that can cause elevated LDL cholesterol and premature cardiovascular disease. A negative result does not exclude all inherited causes of high cholesterol because other genes and environmental factors may be involved. A genetics professional or your healthcare provider can interpret the result in the context of your cholesterol levels, family history, and other findings.
Short name
APOB, LDLR, and PCSK9 genetic testing
Frequently asked questions
Does this test diagnose high cholesterol on its own?
Can relatives be tested?
Will the results change my treatment?
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