LDLR Gene Deletion/Duplication Analysis, Blood — Multiplex Ligation-Dependent Probe Amplification (MLPA)
A blood-based genetic test that detects deletions or duplications involving the LDLR gene, which can cause familial hypercholesterolemia.
["This test checks for large genetic changes in the LDLR gene that may raise cholesterol levels."]
Key facts at a glance
- LOINC
- 69486-9
- Short code
- LDLR gene Del+Dup Bld/T MLPA
- Synonyms
- LDLR gene Del+Dup Bld/T MLPA
- 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
- mlpa
- 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 large deletions or duplications in the LDLR gene. The LDLR gene helps regulate how the body removes LDL cholesterol from the blood.
Why might I need this test?
It may be ordered for people with unusually high cholesterol, a strong family history of early heart disease, or an established family genetic condition. It can help identify or confirm familial hypercholesterolemia and may be used for testing relatives of an affected person.
How is the test performed?
DNA is isolated from a blood sample and analyzed using multiplex ligation-dependent probe amplification, or MLPA. The laboratory checks the LDLR gene for missing or extra genetic material.
How do I prepare for the test?
Fasting is usually not required for this genetic blood test. Bring or arrange the genetic counseling and consent process requested by the ordering clinician, and tell the laboratory if you have had a blood transfusion recently.
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 deletion or duplication affecting the LDLR gene can impair LDL cholesterol clearance and may indicate familial hypercholesterolemia. A positive result may support an inherited cause of high cholesterol and can help guide cardiovascular risk assessment, family screening, and treatment. A negative result does not exclude all LDLR-related disease because some harmful changes are too small or have other forms not detected by this test.
Short name
LDLR Gene Deletion/Duplication Test
Frequently asked questions
Does this test measure my cholesterol?
Can this test diagnose familial hypercholesterolemia?
Can relatives be tested using the same method?
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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 16, 2026. · Read our editorial policy