FSH Receptor Gene Mutation Detection (Blood)
This test checks for mutations in the gene that codes for the Follicle Stimulating Hormone (FSH) receptor, which can affect hormone regulation and reproductive health.
["Identifying FSH receptor gene mutations may help diagnose or guide treatment for conditions linked to reproductive or endocrine dysfunction."]
Key facts at a glance
- LOINC
- 80715-6
- Short code
- FSHR gene Mut Anl Bld/T
- Synonyms
- FSHR gene Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 3.5
- Ref high
- 12.5
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 83001
- 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 doctor may recommend this test if you have symptoms or a family history suggestive of conditions like premature ovarian insufficiency, infertility, or other hormonal imbalances linked to FSH receptor dysfunction. It may also be part of genetic counseling for individuals with a known family history of related genetic disorders.
What to Expect Before the Test
No special preparation is typically needed. You will provide a blood sample, usually drawn from a vein in your arm. The sample is sent to a lab for genetic analysis.
What the Test Results Mean
Results can be positive (mutation detected) or negative (no mutation found). A positive result may indicate a genetic predisposition to certain reproductive or hormonal conditions. Results are interpreted by a healthcare provider in the context of your medical history and symptoms.
Common Conditions Linked to FSH Receptor Mutations
Mutations in the FSH receptor gene can be associated with conditions such as primary ovarian insufficiency (POI), infertility, or other endocrine disorders. These mutations may affect how your body responds to FSH, a hormone critical for reproductive function.
Reference range
Follicular: 3.5-12.5 mIU/mLN/A
For females: inform if menstrual cycle status. For certain tests, timing within menstrual cycle may matter.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Short name
FSHR Gene Mutation Test
Frequently asked questions
What might cause my doctor to order this test?
How are FSH receptor gene mutations typically treated?
Can this test be done on other body fluids besides blood?
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