GJB1 Gene Mutation Status (Beta-2-Adherin Gene)
This test checks for specific genetic variations in the GJB1 gene, which is linked to certain hearing loss and skin conditions.
["Genetic screening for rare inherited conditions that may affect hearing or skin health."]
Key facts at a glance
- LOINC
- 40461-6
- Short code
- GJB1 allele 1 Bld/T
- Synonyms
- GJB1 allele 1 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 Might Be Ordered
Your healthcare provider may recommend this test if you have a family history of hearing loss (especially sudden or progressive), skin disorders like generalized erythroderma, or other related symptoms. It could also be part of prenatal testing if you or your partner carry a known GJB1 mutation.
What to Expect Before the Test
No special preparation is needed. A blood sample is typically taken from a vein in your arm. If testing is done during pregnancy, a simple blood draw or, in some cases, a small sample from the placenta may be used.
What the Results Mean
Results will indicate whether you carry the specific GJB1 mutation being tested. If you do, it means you have a higher risk of passing this genetic trait to your children. If you don’t carry the mutation, it does not rule out other genetic or environmental causes of hearing loss or skin conditions.
Common Conditions Linked to GJB1 Mutations
Mutations in the GJB1 gene are associated with conditions like **congenital deafness** (present at birth) and **hereditary generalized erythroderma** (a severe, widespread skin rash). Some people may also experience skin sensitivity or nerve-related symptoms.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Identifying GJB1 mutations helps healthcare providers tailor genetic counseling and management plans. For example, if you have a mutation linked to hearing loss, early interventions like hearing aids or cochlear implants may be recommended. Genetic testing can also inform reproductive decisions, such as prenatal testing or carrier screening for future pregnancies.
Short name
GJB1 Allele Testing
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my ability to have children?
Do I need to fast before 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