Genetic Mutation Screening for Specific Gene (Serum/Plasma DNA)
This test checks for mutations in a specific gene that may be linked to certain inherited conditions. It involves analyzing a small sample of your blood to detect any changes in the DNA sequence.
["Helps identify potential genetic risks for inherited disorders that may require further medical evaluation or monitoring."]
Key facts at a glance
- LOINC
- 41764-2
- Short code
- SBDS gene Mut Anl Bld/T
- Synonyms
- SBDS 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 looks for specific mutations in the DNA sequence of a particular gene. These mutations can alter how your body’s proteins function, sometimes leading to inherited health conditions. The sample is typically processed from your blood plasma or serum to extract DNA for analysis.
How the Test Works
Your blood sample is sent to a lab where specialized techniques—such as next-generation sequencing or targeted PCR—identify any DNA changes (mutations) in the gene of interest. The lab compares your DNA to a known reference sequence to detect variations.
Why It Might Be Ordered
Doctors may recommend this test if you have a family history of a genetic disorder linked to the gene in question, or if you’re at risk due to certain health conditions or ethnic background. It can also be used for prenatal screening or carrier testing in some cases.
What to Expect Before the Test
No special preparation is needed, but you may be asked to fast for 8–12 hours before the blood draw if instructed by your healthcare provider. Bring any medications or supplements you’re taking to discuss with your doctor.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
Gene Mutation Test (DNA)
Frequently asked questions
If a mutation is found, it may indicate an increased risk for inherited conditions like metabolic disorders, neurological diseases, or cancer predispositions. Results can guide decisions about genetic counseling, lifestyle changes, or preventive treatments.
What does a positive result mean?
How long does it take to get results?
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