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Genetic Mutation Analysis for Specific Single-Nucleotide Variations in Serum/Plasma (SMN1 and SMN2 Genes)

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

This test checks for mutations in the SMN1 and SMN2 genes, which are linked to spinal muscular atrophy (SMA). It helps determine if you may carry these genetic changes.

Quick summary

["This test may help diagnose or assess genetic risk for SMA-related conditions."]

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

Key facts at a glance

LOINC
49857-6
Short code
SMN1+SMN2 gene Mut Anl Bld/T
Synonyms
SMN1+SMN2 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 symptoms of SMA, a family history of SMA, or if you’re considering genetic counseling. It can also be part of prenatal or preimplantation genetic testing in certain cases.

What to Expect Before the Test

You’ll provide a blood sample (serum or plasma) for testing. No special preparation is needed, but fasting may not be required unless specified by your provider.

What the Test Measures

The test detects genetic mutations in the SMN1 and SMN2 genes, which encode proteins critical for nerve cell function. Mutations in these genes can lead to SMA, a progressive neuromuscular disorder.

How Results Are Interpreted

Results will indicate whether you have the specific mutations being tested. A positive result means you carry these genetic changes, which may increase your risk for SMA or related conditions. Consult your healthcare provider for personalized interpretation.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

Clinical Significance

Short name

SMN Gene Mutation Test (Serum/Plasma)

Frequently asked questions

What Does This Test Tell You About My Health?
This test helps identify if you have inherited mutations in the SMN1 and SMN2 genes. While not all genetic mutations cause SMA, they can inform genetic counseling, family planning, or further diagnostic testing if symptoms appear.
How Does This Test Differ from Other Genetic Tests?
Unlike broader genetic panels, this test focuses specifically on the SMN1 and SMN2 genes. It’s often used in targeted genetic testing for SMA or related conditions, not as a general health screen.
What If My Results Are Positive?
If your results are positive, your healthcare provider will discuss next steps, which may include additional genetic testing, genetic counseling, or monitoring for SMA symptoms. Support groups and resources for SMA are also available.
  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