CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test
Short Name: CASR Gene Hypocalciuric Hypercalcemia Type 1 Test
Also known as: Familial Hypocalciuric Hypercalcemia Type 1, FHH Type 1
CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood, Extracted DNA, or FTA Card samples. Results in 3-4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To diagnose hypocalciuric hypercalcemia type 1 by detecting pathogenic mutations in the CASR gene using next-generation sequencing technology.
- Test Code
- 5433
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or FTA Card
- Result Time
- 3-4 weeks
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and undergo a genetic counseling session to draw a family pedigree chart.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm.
Report Delivery
Apply pressure to the puncture site with a cotton ball to stop bleeding and avoid strenuous activity.
Timeline: 3-4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose hypocalciuric hypercalcemia type 1 by detecting pathogenic mutations in the CASR gene using next-generation sequencing technology.
How to Prepare
- No fasting required for this test
- Bring a doctor's prescription and valid identification
- Wear comfortable clothing with easy access to the arm
- Inform the healthcare provider about any medications or health conditions
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for confirming diagnosis and guiding management in familial hypocalciuric hypercalcemia."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume for analysis
- Hemolyzed, clotted, or contaminated sample
- Incorrect sample type or container used
- Missing patient identification or consent forms
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of hypocalciuric hypercalcemia type 1; genetic counseling and family screening recommended
No pathogenic variant detected
Unlikely to have CASR-related hypocalciuric hypercalcemia, but clinical correlation and further testing may be needed
Variant of uncertain significance
Requires additional family studies or functional analysis for clarification; genetic counseling advised
If you have symptoms of hypercalcemia, a family history of hypocalciuric hypercalcemia, or abnormal blood test results, consult a geneticist or endocrinologist for evaluation and testing.
Limitations
- ⚠May not detect all types of genetic variations, such as large deletions or duplications
- ⚠Requires genetic counseling for accurate interpretation of results
- ⚠Not a screening test for the general population; indicated for symptomatic or at-risk individuals
- ⚠Results may have variants of uncertain significance requiring further investigation
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising, pain, or infection at the puncture site
- ●Psychological impact of genetic results, including anxiety or stress
- ●Potential for incidental findings unrelated to the primary condition
Interfering Factors
- ●Degraded or insufficient DNA sample
- ●Sample contamination during collection or processing
- ●Hemolyzed or clotted blood sample
- ●Recent blood transfusions affecting DNA analysis
Compare With Similar Tests
| Test | CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test | Serum Calcium Test | Parathyroid Hormone Test | Urine Calcium Test | Genetic Counseling Session |
|---|---|---|---|---|---|
| Comparison | CASR Gene Hypocalciuric hypercalcemia, type 1 NGS Genetic Test |
Frequently Asked Questions
What is CASR Gene Hypocalciuric Hypercalcemia Type 1?
What are the common symptoms of hypocalciuric hypercalcemia?
How is hypocalciuric hypercalcemia diagnosed?
What does the CASR Gene NGS Genetic Test involve?
What is the cost of the CASR Gene NGS Genetic Test in India?
Is home sample collection available for this test?
How long does it take to get results from the test?
What should I do before undergoing the test?
Are there any risks associated with the genetic test?
What do the test results indicate?
Can this test be used for prenatal diagnosis?
Who should consider getting this genetic test?
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
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