Apolipoprotein B (APOB) and Low-Density Lipoprotein Receptor (LDLR) Gene Mutation Analysis, Blood — Detection
A blood-based genetic test that checks for selected inherited changes in the APOB or LDLR genes, which can cause familial hypercholesterolemia.
["This test looks for inherited gene changes that may cause unusually high LDL cholesterol."]
Key facts at a glance
- LOINC
- 56752-9
- Short code
- APOB+LDLR gene Mut Anl Bld/T
- Synonyms
- APOB+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 analyzes DNA from a blood sample for certain mutations in the APOB or LDLR genes. These genes help regulate how the body handles and removes LDL cholesterol.
Why might I need this test?
It may be considered when high LDL cholesterol runs in a family, appears at a young age, or may be caused by a familial hypercholesterolemia genetic condition. A clinician can decide whether this test is appropriate based on your personal and family history.
How is the test performed?
A blood sample is collected, and laboratory staff analyze the DNA for selected changes in the APOB and LDLR genes. The exact laboratory methods may vary, and testing may not detect every possible genetic change.
How do I prepare for the test?
No special preparation is usually required for the genetic portion of this test. If blood lipid testing is also ordered, you may need to follow the clinic's instructions about fasting.
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.
Finding a disease-causing change in APOB or LDLR can support a diagnosis of familial hypercholesterolemia. This condition can cause elevated LDL cholesterol and increase the risk of early heart disease and stroke. A negative result does not exclude every genetic cause, so results should be interpreted with cholesterol measurements, family history, and other clinical findings.
Short name
APOB/LDLR genetic testing
Frequently asked questions
What does this test look for?
Does a positive result mean I have heart disease?
Can this test rule out familial hypercholesterolemia?
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