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DNA Labs India

CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test

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CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test

Also known as: Autosomal Dominant Hypocalcemia with Bartter Syndrome, CASR-related Hypocalcemia

CASR Gene Hypocalcemia, autosomal dominant, with Bartter syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify mutations in the CASR gene that cause autosomal dominant hypocalcemia with Bartter syndrome, aiding in diagnosis, genetic counseling, and family planning.

Test Code
5432
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Inform the healthcare provider about any medications or supplements.

Method: Venipuncture or saliva collection

Step 2

Laboratory Analysis

A small blood sample will be drawn from a vein in the arm, or a saliva sample will be collected.

Step 3

Report Delivery

Apply pressure to the puncture site to stop bleeding. Resume normal activities.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:No fasting required. Provide clinical history and family pedigree.
2
During the Test:Sample collection takes about 10-15 minutes.
3
After the Test:Results will be available in 3-4 weeks. Follow up with your doctor.

About This Test

Who Should Get This Test

To identify mutations in the CASR gene that cause autosomal dominant hypocalcemia with Bartter syndrome, aiding in diagnosis, genetic counseling, and family planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label samples correctly
  • Transport samples at ambient temperature

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Genetic testing for CASR gene mutations is crucial for accurate diagnosis and management of hypocalcemia with Bartter syndrome, helping in personalized treatment plans."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume2-5 mL blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or saliva collection

Sample Stability

Blood samples stable for 48 hours at room temperature
DNA samples stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect labeling

Understanding Your Results

Results will indicate the presence or absence of mutations in the CASR gene. A positive result confirms the diagnosis, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of CASR gene hypocalcemia with Bartter syndrome. Genetic counseling recommended.

📊

No pathogenic variant detected

CASR gene mutations not found. Consider other genetic or non-genetic causes.

⚠️ When to Consult a Doctor:

If you experience symptoms of hypocalcemia such as muscle cramps, tingling, or seizures, or if you have a family history of the disorder, consult a healthcare provider for genetic testing.

Limitations

  • ⚠May not detect all possible mutations
  • ⚠Results require clinical correlation
  • ⚠Not a substitute for comprehensive metabolic testing

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare risk of infection
  • ●No significant risks for saliva collection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Incorrect sample type

Frequently Asked Questions

What is CASR Gene Hypocalcemia with Bartter Syndrome?
It is a rare genetic disorder caused by mutations in the CASR gene, leading to low blood calcium (hypocalcemia) and high urine potassium (hyperkalemia), with symptoms like muscle cramps and kidney problems.
What are the common symptoms of this disorder?
Symptoms include muscle cramps, weakness, fatigue, kidney issues, abdominal pain, nausea, bone pain, and irregular heartbeat.
How is the disorder diagnosed?
Diagnosis is confirmed through genetic testing, specifically the NGS Genetic Test that analyzes the CASR gene for mutations.
What does the NGS Genetic Test involve?
It uses Next Generation Sequencing to examine the entire CASR gene from a blood or saliva sample, providing detailed mutation analysis.
What is the cost of the test?
The test costs INR 20,000, which includes sample collection, testing, and a detailed report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across India for online bookings.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the test results mean?
A positive result indicates a pathogenic mutation in the CASR gene, confirming the diagnosis. A negative result means no mutations were detected, but further testing may be needed.
Is genetic testing covered by insurance?
Coverage varies by insurance plan. It is advisable to check with your provider for specific coverage details.
Can this test be used for family planning?
Yes, genetic testing can help identify carriers and inform family planning decisions through genetic counseling.
What are the risks of the test?
Risks are minimal and may include minor bruising from blood draw or rare infection. Saliva collection has no significant risks.
How can I prepare for the test?
No special preparation is needed. Provide your clinical history and family pedigree during genetic counseling.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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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Your medical data is protected under Indian law.

✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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