Genetic Mutation Analysis: Specific Deletion/Insertion in SDHC Gene (Blood)
This test checks for specific genetic changes in the SDHC gene, which may be linked to certain hereditary conditions affecting the body’s energy production. It’s often ordered if family history or symptoms suggest a genetic disorder.
["This test helps identify inherited mutations that could influence long-term health risks."]
Key facts at a glance
- LOINC
- 82531-5
- Short code
- SDHC gene Del+Dup + Full Mut Anl Bld/T
- Synonyms
- SDHC gene Del+Dup + Full Mut Anl Bld/T
- Category
- chemistry
- Sample
- whole-blood
- Container
- Lavender-top (EDTA)
- Units
- N/A
- Ref low
- 0
- Ref high
- 5
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 18–65 years
- Method
- molgen
- CPT
- 84702
- SNOMED
- 275917004
- 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 or a family member have symptoms like unexplained fatigue, muscle weakness, or other signs of a rare metabolic disorder. It’s also used in genetic counseling for hereditary conditions.
What to Expect Before the Test
You’ll provide a blood sample, usually drawn from your arm. No special preparation is needed, but fasting may be advised depending on the clinic’s protocol. You may experience mild discomfort, but it’s quick and painless.
What the Test Results Mean
Results can be normal (no mutation detected) or positive (mutation found). A positive result may require further genetic counseling or additional testing to understand implications for you and your family.
Common Conditions Linked to SDHC Mutations
SDHC gene mutations are associated with hereditary forms of **familial paraganglioma** (a rare tumor of nerve cells) and **hereditary pheochromocytoma** (a tumor affecting the adrenal glands). These conditions may not cause symptoms until adulthood.
Reference range
Non-pregnant: <5 mIU/mLN/A
No special preparation usually required. Stay well hydrated. Inform your healthcare provider of all medications and supplements you are taking.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance: Genetic mutations in the SDHC gene can increase the risk of developing specific tumors or metabolic disorders. Early detection through genetic testing allows for proactive monitoring, family planning, and risk management strategies.
Short name
SDHC Gene Mutation Screen (Blood)
Frequently asked questions
What does a positive result mean for my health?
Will this test affect my insurance or ability to get health coverage?
Can I get this test if I don’t have symptoms?
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