Genetic sequencing of CASR gene (full-length) from whole blood
This test checks for changes (mutations) in the CASR gene, which may affect calcium metabolism and related conditions like hypocalcemia or hypercalcemia.
["This test helps diagnose or monitor genetic conditions linked to abnormal calcium levels."]
Key facts at a glance
- LOINC
- 82534-9
- Short code
- CASR
- Synonyms
- CASR gene Full Mut Anl Bld/T Seq
- Category
- chemistry
- Sample
- whole-blood
- Container
- EDTA (lavender-top) tube for whole blood; sterile container for tissue specimens
- Units
- N/A
- Fasting
- false
- Population
- adult
- Sex
- all
- Age range
- 0–999 years
- Method
- sequencing
- CPT
- 81405
- SNOMED
- 5304006
- Specimen volume
- 3-5 mL whole blood or 5-10 mg tissue
- Stability
- Whole blood: 7 days at 2-8°C; ambient: 24-48 hours. Tissue: stable for 7 days at 2-8°C; long-term storage at -20°C or -80°C. DNA extracted stable for years at -20°C.
- Hemolysis max
- 0
- Lipemia max
- 0
- Icterus max
- 0
- TAT
- 336–720 hours
- Order
- routine
Why This Test Is Done
Your healthcare provider may order this test if you have symptoms like muscle spasms, abnormal calcium levels, or a family history of conditions tied to CASR gene mutations. It’s also used in genetic counseling or before certain surgeries.
What to Expect Before the Test
No special preparation is needed. A healthcare professional will take a small blood sample from your arm, similar to a routine blood draw. The sample is then sent to a lab for genetic analysis.
What the Test Results Mean
Results can identify specific mutations in the CASR gene. These may indicate inherited disorders affecting calcium regulation, such as familial hypocalciuric hypercalcemia (FHH) or other rare conditions. Your doctor will discuss findings with you.
Common Conditions Linked to CASR Gene Mutations
Mutations in this gene can lead to conditions where calcium levels in your blood are too high or too low, affecting bones, muscles, and nerves. Early detection can guide treatment plans.
Reference range
No CASR mutations detected (negative). Interpretation provided correlates genotype with clinical phenotype (e.g., Familial Hypocalciuric Hypercalcemia Type 1, Neonatal Severe Hyperparathyroidism, Autosomal Dominant Hypocalcemia Type 1).N/A
No special preparation required. Patient should be informed of the genetic nature of the test. Informed consent may be required per institutional policy.
Clinical interpretation
How abnormal results are interpreted and what conditions they suggest.
◆Associated findings1
Short name
CASR Gene Mutation Sequencing
Frequently asked questions
Will this test hurt?
How long will I need to wait for results?
Can I eat or drink 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