Genetic Mutation Detection in Whole Blood (Next-Generation Sequencing)
This test checks for specific genetic mutations in your blood, which may help identify inherited conditions or guide personalized treatment options.
["A genetic test to detect mutations linked to potential health risks or treatment planning."]
Key facts at a glance
- LOINC
- 60487-6
- Short code
- NPHP1 gene Mut Anl Bld/T
- Synonyms
- NPHP1 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
This test analyzes DNA from your blood sample to identify changes (mutations) in specific genes. Certain mutations can increase the risk of diseases like cancer, metabolic disorders, or other genetic conditions. The test may also help determine if a genetic predisposition exists for conditions that require monitoring or specialized care.
How the Test Works
Blood is drawn and processed to extract DNA. Advanced sequencing technology scans the DNA for known mutations. Results are compared against a database of known genetic variations to identify any concerning changes.
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 carrier testing for conditions like cystic fibrosis, sickle cell disease, or certain cancers.
Sample Collection and Preparation
A small blood sample is taken from a vein in your arm. The blood is sent to a lab where it’s prepared for genetic analysis. You may be asked to fast or avoid certain activities depending on specific testing instructions.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying genetic mutations can provide critical information for diagnosis, risk assessment, and treatment planning. For example, detecting a mutation linked to a cancer-prone gene might allow for early intervention, while confirming a carrier status for a recessive disorder helps guide family planning decisions. However, not all mutations are clinically actionable, so results should always be interpreted by a healthcare professional.
Short name
Genetic Mutation Screening (blood)
Frequently asked questions
What does a positive result mean?
How long will I need to wait for results?
Can I get this test if I don’t have symptoms?
Sources
- 1
- 2Lab Tests OnlineSource
- 3
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.
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