HOXB13 Gene Mutation Analysis (Qualitative)
This test checks for specific genetic changes in the HOXB13 gene, which may be linked to certain birth defects or developmental conditions.
["A genetic test to assess potential risks related to rare birth defects."]
Key facts at a glance
- LOINC
- 56157-1
- Short code
- HOXB13 gene/IL17BR gene Tiss-Rto
- Synonyms
- HOXB13 gene/IL17BR gene Tiss-Rto
- Category
- chemistry
- Sample
- serum
- Container
- Red-top tube (SST)
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- Specimen volume
- 5 mL
- Stability
- Room temperature: 4h, Refrigerated: 24h, Frozen: 7d
- Hemolysis max
- 500
- Lipemia max
- 1000
- Icterus max
- 500
- TAT
- 4–24 hours
- Order
- routine
Why This Test Might Be Ordered
Your healthcare provider may recommend this test if you or your baby are at risk for conditions like limb reduction defects (e.g., amelia or phocomelia), where limbs are underdeveloped or absent. It could also be used in prenatal screening for families with a history of similar genetic conditions.
What to Expect Before the Test
No special preparation is needed. A simple blood sample (whole blood) is typically collected from a vein in your arm. If done prenatally, a small blood sample may be taken from the umbilical cord or placenta.
What the Results Mean
Results will indicate whether the HOXB13 gene has a known mutation associated with the conditions being tested for. A positive result means the mutation is present, while a negative result means it is not detected in this sample.
Common Conditions Linked to HOXB13 Mutations
Mutations in the HOXB13 gene are strongly linked to limb reduction defects, such as severe underdevelopment or absence of limbs. This test helps identify genetic predispositions that may inform prenatal care or family planning decisions.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance: Genetic Testing for Developmental Conditions
Short name
HOXB13 Gene Test
Frequently asked questions
What does a positive result mean for my health or my baby’s health?
Will this test affect my ability to have children?
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