Chloride Genomic Analysis (Full Mutation Screening)
This test evaluates the genetic makeup of the *CLCN7* gene, which may be linked to certain inherited conditions affecting muscle or nerve function.
["Genetic screening helps identify potential inherited disorders that could impact muscle or nerve health."]
Key facts at a glance
- LOINC
- 101393-7
- Short code
- CLCN7 gene Full Mut Anl Bld/T
- Synonyms
- CLCN7 gene Full 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
What This Test Measures
The test checks for full mutations in the *CLCN7* gene, which encodes a protein involved in chloride transport across cell membranes. Mutations in this gene can lead to rare inherited disorders, such as certain forms of myopathy (muscle weakness) or neuropathy (nerve damage).
Why It Might Be Ordered
Your healthcare provider may recommend this test if you or a family member have symptoms like muscle weakness, unexplained fatigue, or nerve-related issues. It’s also used in genetic counseling for individuals with a family history of related disorders.
Sample Collection and Process
A blood sample (whole blood) is typically collected for genetic testing. The sample is sent to a laboratory where DNA is extracted and analyzed for mutations in the *CLCN7* gene using advanced sequencing techniques.
What to Expect Before the Test
No special preparation is needed for this test. You may be asked to fast or avoid certain medications, but this depends on the broader genetic testing protocol your provider follows.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
Clinical Significance
Frequently asked questions
Mutations in *CLCN7* can cause inherited conditions like **hyperkalemic periodic paralysis** or **myotonic dystrophy-related phenotypes**, leading to muscle cramps, weakness, or fatigue. Early detection through genetic testing can inform treatment options and family planning.
Will this test show if I have a mild or asymptomatic mutation? This test focuses on full mutations in *CLCN7*. Mild or asymptomatic variants may not be detected by this specific screening.
How long will it take to get results? Results from this genetic test typically take 2–4 weeks, depending on laboratory processing and confirmation steps.
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