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Genetic mutation detection in whole blood (qualitative)

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

This test checks for specific genetic mutations present in your blood, which may be linked to inherited conditions or cancer risks.

Quick summary

["Genetic mutations can influence your health and may require further testing or monitoring."]

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

Key facts at a glance

LOINC
38914-8
Short code
RS1 gene Mut Anl Bld/T
Synonyms
RS1 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

What This Test Measures

The test identifies whether certain genetic changes (mutations) are present in your blood cells. These mutations can be associated with conditions like inherited disorders, cancer predisposition, or other genetic syndromes. The test uses a qualitative method to determine presence or absence rather than measuring exact amounts.

Why It’s Ordered

Your healthcare provider may recommend this test if you have a family history of genetic disorders, cancer, or other health concerns. It can also be used as part of screening, risk assessment, or diagnostic evaluation for conditions linked to specific genetic mutations.

Sample Collection and Preparation

A small blood sample is drawn from your arm. The blood is processed to isolate genetic material, and the test analyzes this material for the presence of targeted mutations. No special preparation is needed, but fasting may not be required unless specified by your provider.

Test Results Interpretation

Results are qualitative, meaning they indicate whether the mutation is present (positive) or not (negative). If the test is positive, further genetic counseling and testing may be recommended to understand implications and next steps.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Frequently asked questions

How long does it take to get results?
Results are typically available within 1 to 2 weeks, depending on laboratory processing times and any additional confirmatory testing required.
What does a positive result mean?
A positive result indicates the presence of the specific genetic mutation being tested for. This may suggest an increased risk for certain conditions or inherited disorders, but it does not confirm a diagnosis. Your healthcare provider will help explain the implications and next steps.
Can this test be used for prenatal screening?
No, this test is performed on whole blood and is primarily used for adult genetic screening, risk assessment, or diagnostic purposes. Prenatal genetic testing typically involves different methods, such as amniocentesis or non-invasive prenatal testing (NIPT), depending on the clinical context.
  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