CDKN1B Gene Full Mutation and Germline Analysis via Next-Generation Sequencing (NGS)
This test checks for mutations in the CDKN1B gene, which may be linked to certain inherited cancer risks. It involves analyzing a small sample of your blood to identify any genetic changes.
["This test helps assess inherited genetic risks for specific cancers by examining a key gene mutation."]
Key facts at a glance
- LOINC
- 75389-7
- Short code
- CDKN1B
- Synonyms
- CDKN1B Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender/purple-top) blood collection tube for whole blood; sterile container with saline or RNA/DNA stabilization solution for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- ≥ 0 years
- Method
- sequencing
- CPT
- 81479
- SNOMED
- 760987004
- Specimen volume
- 3-5 mL whole blood; 5-10 mg fresh tissue or paraffin-embedded tissue block
- Stability
- Whole blood: 72 hours at room temperature, 7 days at 2-8°C. Extracted DNA: stable for 1 year at -20°C or longer at -80°C. Tissue: formalin-fixed paraffin-embedded (FFPE) tissue stable indefinitely at room temperature.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 336–720 hours
- Order
- routine
What This Test Measures
The test looks for mutations in the CDKN1B gene, which plays a role in cell cycle regulation. Mutations in this gene may increase the risk of certain cancers, including breast, prostate, and colorectal cancers, though this is not universal and depends on other genetic and lifestyle factors.
Why It Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of certain cancers, have been diagnosed with one of these cancers at a younger age than typical, or if you’re at higher risk due to other genetic test results. It’s also used for genetic counseling and risk assessment in inherited cancer syndromes.
Sample Collection and Process
A blood sample is collected, typically from a vein in your arm. The sample is then sent to a laboratory for genetic sequencing. This process identifies any mutations in the CDKN1B gene that may be present in your DNA.
What to Expect Before the Test
No special preparation is usually needed for this test. You may be asked to fast or avoid certain medications, but this is rare for genetic sequencing tests. Always follow your healthcare provider’s instructions.
Reference range
No pathogenic mutations detected in the CDKN1B gene coding region and splice sites. Wild-type sequence confirmed.N/A
No special patient preparation is required. Genetic counseling is recommended prior to and following testing. Informed consent for genetic testing should be obtained per institutional policy.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Having a mutation in the CDKN1B gene may increase your risk for certain cancers, though the risk varies widely. If a mutation is found, it can help guide cancer screening, treatment decisions, and family planning. Genetic counseling is strongly recommended to discuss implications and next steps.
Short name
NGS CDKN1B Mutation Test
Frequently asked questions
What does a positive result mean?
What does a negative result mean?
How often should I get this test?
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