Genetic mutation analysis for intron 22 of the Factor IX gene (F9) via next-generation sequencing
This test checks for genetic changes in the intron 22 region of the Factor IX gene, which is linked to bleeding disorders like hemophilia B.
["Helps identify inherited genetic variations that may affect blood clotting function."]
Key facts at a glance
- LOINC
- 91679-1
- Short code
- F8 intron 22 Inv Mut Anl Bld/T
- Synonyms
- F8 intron 22 Inv 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
Why This Test Is Done
Your healthcare provider may recommend this test if you or a family member has symptoms of bleeding disorders, a history of hemophilia B, or unexplained bleeding or bruising. It may also be part of prenatal testing if there’s a family history of Factor IX-related conditions.
What to Expect Before the Test
No special preparation is needed. If you’re undergoing prenatal testing, a blood sample may be taken from you or your partner. For other cases, a blood sample is typically drawn from a vein in your arm.
What the Test Results Mean
Results will indicate whether the intron 22 mutation is present. A positive result means you carry the genetic variation linked to hemophilia B risk. Consult your provider for interpretation and next steps.
Common Causes for Testing
Testing is often triggered by a suspected bleeding disorder, family history, or genetic counseling recommendations. It helps confirm or rule out inherited mutations before symptoms appear.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Factor IX is a protein in blood that helps form clots. Mutations in this gene can impair its function, leading to hemophilia B—a genetic disorder causing excessive bleeding. Early detection allows for proactive management and treatment planning.
Short name
F9 Intron 22 Mutation Screening (NGS)
Frequently asked questions
Will this test affect my insurance coverage?
How long will I need to wait for results?
Can I donate blood if I have 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