Full Genome Sequencing of Whole Blood for Mutations in Specific Genes (e.g., Fanconi Anemia Pathways)
This test analyzes genetic material from your blood to check for mutations in genes linked to inherited blood disorders, such as Fanconi anemia or other genetic blood conditions.
["Genetic testing helps identify potential inherited risks related to blood health."]
Key facts at a glance
- LOINC
- 94239-1
- Short code
- F11 Full Mut Anl Bld/T Seq
- Synonyms
- F11 Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- sequencing
- 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 involves sequencing DNA extracted from your blood sample to detect specific mutations in genes associated with blood disorders. This includes examining regions of DNA that may be altered due to inherited conditions, such as those causing blood cell dysfunction or cancer predisposition.
How the Test Works
Your blood sample is processed to isolate DNA, which is then analyzed using advanced sequencing technology. This process identifies any changes (mutations) in the targeted genes that could affect how your blood cells function or increase cancer risk.
Why It Might Be Ordered
A healthcare provider may recommend this test if you have a family history of blood disorders, certain blood cancers, or if symptoms like anemia, bleeding disorders, or other genetic concerns are present.
Sample Collection and Preparation
A blood sample is drawn from a vein, typically in a clinic or lab. The blood is processed to extract DNA, which is then prepared for sequencing. This process is usually painless and takes a few minutes.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Frequently asked questions
This test can confirm or rule out inherited genetic conditions affecting blood health, guide treatment decisions, and help monitor risks for related disorders. Early detection may influence management strategies for conditions like Fanconi anemia or other genetic blood disorders.
The results will focus on specific mutations in genes linked to blood disorders. You’ll receive a detailed report explaining any identified mutations and their potential implications for your health.
No, this test does not provide a general health check or routine screening. It is specifically for detecting mutations in genes related to blood disorders.
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