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Genetic Mutation Analysis for SLC12A1 (Sodium-Iodide Symporter Gene)

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

This test checks for specific genetic changes in the SLC12A1 gene, which may be linked to conditions affecting sodium and chloride balance or thyroid function.

Quick summary

["Genetic testing for SLC12A1 mutations can help diagnose or guide management of rare inherited disorders."]

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

Key facts at a glance

LOINC
99057-2
Short code
SLC12A1 Full Mut Anl Bld
Synonyms
SLC12A1 Full Mut Anl Bld
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 symptoms or a family history suggestive of conditions like pseudohypoaldosteronism type II (PHAII), which involves abnormal sodium and potassium levels, or if you have a known genetic predisposition to metabolic disorders related to this gene.

What to Expect Before the Test

No special preparation is typically needed. You may provide a blood sample (whole blood) for genetic analysis. If you have specific instructions, follow them as directed by your healthcare provider.

What the Test Results Mean

Results can be positive (indicating a mutation) or negative (no mutation detected). A positive result means you have a genetic change in the SLC12A1 gene, which may require further evaluation by a specialist to understand its implications for your health.

Common Conditions Linked to SLC12A1 Mutations

Mutations in SLC12A1 can be associated with conditions affecting electrolyte balance, such as pseudohypoaldosteronism type II, or may play a role in other metabolic or endocrine disorders. These conditions can cause symptoms like high blood pressure, kidney issues, or unusual electrolyte imbalances.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

SLC12A1 Mutation Test

Frequently asked questions

How often will I hear back about my results?
Results are typically reviewed by a genetic counselor or healthcare provider who specializes in genetic testing. You will usually receive a call or letter with the results within a few weeks to a couple of months, depending on the lab’s processing time. Follow-up may include additional testing or consultations with specialists.
What if my test results are positive?
A positive result means you have a genetic mutation in the SLC12A1 gene. Your healthcare provider will discuss next steps, which may include genetic counseling, further medical evaluation, or monitoring for symptoms related to this mutation. They may also refer you to a specialist, such as an endocrinologist or geneticist, for more detailed care.
Can this test be done on saliva instead of blood?
This test is primarily performed on a blood sample (whole blood) for genetic analysis. Saliva tests (buccal swabs) are not typically used for this specific genetic mutation analysis unless specified by your healthcare provider for certain protocols or research purposes.
  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