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Low-Density Lipoprotein Receptor (LDLR) Gene Mutation Analysis, Blood

Published: August 9, 2026Updated: August 16, 2026

A blood-based genetic test that checks for variants in the LDLR gene, which may cause inherited high cholesterol, including familial hypercholesterolemia.

Quick summary

["This test can identify certain inherited LDLR gene variants that may cause high cholesterol and increase cardiovascular risk."]

Medically reviewed by WellAlly Editorial TeamLast reviewed August 16, 2026Editorial policy

Key facts at a glance

LOINC
69485-1
Short code
LDLR gene Fam Mut Anl Bld/T
Synonyms
LDLR gene Fam 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 changes, called variants, in the LDLR gene. The LDLR gene helps the body remove LDL cholesterol from the bloodstream.

Why might I need this test?

This test may be ordered when high cholesterol, early heart disease, or a family history suggests familial hypercholesterolemia. It may also be used to help assess whether relatives should receive genetic counseling or testing.

How is the test performed?

A blood sample is collected, and laboratory staff analyze its DNA for selected LDLR gene variants. The testing method and the types of variants detectable may vary, so ask the laboratory what the test includes.

How do I prepare for the test?

This is a genetic blood test and usually does not require fasting. The laboratory may have specific consent, identification, and sample-collection requirements, so follow the instructions provided by your healthcare professional.

Reference range

Optimal: <100 mg/dLN/A

Specimen: whole-blood

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.

◆Associated findings2

Short name

LDLR Genetic Testing

Frequently asked questions

Does a positive result mean I definitely have heart disease?
No. It indicates a genetic change that may increase cholesterol levels and cardiovascular risk, but it does not show whether heart disease is already present. Additional evaluation is needed.
Will this test identify every cause of high cholesterol?
No. It examines selected variants in the LDLR gene and may not detect all genetic changes or causes of inherited high cholesterol. The laboratory or clinician can explain the test's limitations.
Should relatives also be tested?
Sometimes. A clinician or genetic counselor can review the result and family history to determine whether testing for the familial variant is appropriate for relatives.
  1. 1
    MedlinePlus — Laboratory TestsSource
  2. 2
    Lab Tests OnlineSource
  3. 3
    Mayo Clinic — Tests & ProceduresSource

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.

Medical Disclaimer

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