Skip to content

Genetic mutation screening in whole blood (next-generation sequencing)

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

This test checks for specific genetic mutations in a sample of your blood using advanced DNA sequencing technology. It helps identify inherited or acquired genetic changes that may influence your health risks or treatment options.

Quick summary

["This test helps identify potential genetic variations that could affect your health or treatment plans."]

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

Key facts at a glance

LOINC
21733-1
Short code
RET gene Mut Anl Bld/T
Synonyms
RET 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 analyzes DNA extracted from your blood cells to detect known mutations in genes associated with various conditions. It uses high-throughput sequencing to identify changes across a selected panel of genes, often linked to inherited disorders, cancer predisposition, or other genetic conditions.

How the Test Works

Blood is drawn, and your DNA is isolated. Specialized laboratory equipment reads the DNA sequence to compare it against a database of known mutations. The results highlight any genetic variations found in the tested genes.

Why It Might Be Ordered

Your healthcare provider may recommend this test if you have a family history of genetic disorders, symptoms suggestive of a genetic condition, or if you’re considering genetic counseling or pre-implantation genetic testing.

Common Uses and Conditions

Common reasons include assessing risks for hereditary cancers (e.g., breast, colon), diagnosing inherited metabolic disorders, evaluating genetic predispositions to autoimmune diseases, or guiding personalized treatment plans for conditions like cystic fibrosis or sickle cell disease.

Clinical interpretation

How abnormal results are interpreted and what conditions they suggest.

◆Associated findings1

Short name

Genetic Mutation Test (blood)

Frequently asked questions

What does a positive result mean?
A positive result indicates the presence of a specific genetic mutation in your DNA. This finding may suggest an increased risk for certain conditions, help confirm a suspected diagnosis, or guide personalized medical care. However, not all mutations cause disease, and additional testing or clinical correlation may be needed.
Will this test show all possible genetic mutations?
No, this test focuses on a selected panel of genes based on clinical indications. It does not screen for all possible genetic mutations in your genome. Some mutations may not be included in the test panel, so results should be interpreted with your healthcare provider’s guidance.
How long will it take to get results?
Results typically take 2 to 4 weeks, depending on the complexity of the test and laboratory processing. Your healthcare provider will contact you once results are available, and they will explain the findings in detail.
  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