Skip to content

Uromodulin (Genetic Mutation Detection) in Blood

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

This test checks for genetic changes in the uromodulin gene, which may affect how your kidneys function and could increase the risk of kidney disease.

Quick summary

["Genetic mutations in uromodulin may raise kidney disease risk; this test helps assess inherited susceptibility."]

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

Key facts at a glance

LOINC
60490-0
Short code
UMOD gene Mut Anl Bld/T
Synonyms
UMOD gene Mut Anl Bld/T
Category
chemistry
Sample
whole-blood
Container
Lavender-top (EDTA)
Units
N/A
Fasting
false
Population
adult
Sex
all
Age range
18–65 years
Method
molgen
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

Why This Test Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of kidney disease, certain kidney conditions, or if you’re being evaluated for genetic predispositions to kidney disorders. It’s also used in research or specialized genetic counseling settings.

What to Expect Before the Test

No special preparation is needed. You’ll provide a small blood sample, usually drawn from your arm. If you’re a child or have difficulty sitting still, let your provider know in advance.

What the Test Measures

This test detects specific mutations in the *UMOD* gene, which encodes uromodulin—a protein produced mainly in the kidneys. Mutations here can disrupt kidney function and increase risks for conditions like hereditary nephropathy.

How Results Are Interpreted

Results are reviewed by a genetic specialist. A positive finding indicates a known mutation linked to kidney disease risk; a negative result means no detected mutation in this test. Results may require further genetic testing or family counseling.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Uromodulin Mutation Test

Frequently asked questions

What does a positive result mean?
A positive result confirms a known mutation in the *UMOD* gene, which may increase your risk of developing kidney disease (e.g., familial juvenile nephropathy). This information can guide preventive care, such as monitoring kidney function or lifestyle adjustments.
What does a negative result mean?
A negative result means no detected mutation in this test, but it doesn’t rule out other genetic factors. If you have symptoms or a family history, further genetic testing may still be recommended.
How often should I get this test?
This test is typically ordered once, often as part of a broader genetic evaluation. Follow-up depends on your provider’s recommendations, such as monitoring kidney health or genetic counseling sessions.
  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