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CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic Test

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CASR Gene Hyperparathyroidism, neonatal severe NGS Genetic Test

Short Name: CASR Gene NGS Test

Also known as: Calcium-Sensing Receptor Gene Test, CASR Mutation Analysis, Neonatal Hyperparathyroidism Genetic Test

CASR Gene Hyperparathyroidism, neonatal severe 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

The purpose of this test is to detect mutations in the CASR gene that cause neonatal severe hyperparathyroidism, aiding in accurate diagnosis, genetic counseling, and personalized treatment planning.

Test Code
5428
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 special preparation required. Inform the healthcare provider about any medications or supplements.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a finger prick for FTA card.

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 special preparation required. Inform the healthcare provider about any medications or supplements.
2
During the Test:A blood sample will be drawn from a vein in the arm or a finger prick for FTA card.
3
After the Test:Apply pressure to the puncture site to stop bleeding. Resume normal activities.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the CASR gene that cause neonatal severe hyperparathyroidism, aiding in accurate diagnosis, genetic counseling, and personalized treatment planning.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment
  • Label the sample correctly

Doctor's Notes

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

"This NGS genetic test is essential for diagnosing neonatal severe hyperparathyroidism caused by CASR gene mutations, enabling early intervention and management."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL for blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient sample volume
  • Improperly labeled sample

Understanding Your Results

Results indicate whether pathogenic mutations in the CASR gene are detected. A positive result confirms genetic predisposition to hyperparathyroidism.
📊

Positive for pathogenic variant

Confirms diagnosis of CASR gene hyperparathyroidism. Genetic counseling and management recommended.

📊

Negative for pathogenic variant

No mutations detected in the CASR gene. Clinical correlation advised.

📊

Variant of uncertain significance

Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of hyperparathyroidism, a family history of the condition, or if genetic test results are positive.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Rare infection risk
  • ●No significant risks associated with genetic testing

Interfering Factors

  • ●Contaminated DNA sample
  • ●Improper sample storage
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestCASR Gene Hyperparathyroidism, neonatal severe NGS Genetic TestSerum Calcium TestPTH TestUltrasound of Parathyroid Glands
ComparisonCASR Gene Hyperparathyroidism, neonatal severe NGS Genetic TestMeasures calcium levels but does not identify genetic cause.Measures parathyroid hormone levels but not specific to CASR mutations.Imaging test to detect gland abnormalities but not genetic.

Frequently Asked Questions

What is the CASR Gene Hyperparathyroidism NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the CASR gene, which can cause neonatal severe hyperparathyroidism.
Why is this test recommended?
It is recommended for individuals with a family history of hyperparathyroidism, neonatal hypercalcemia, or symptoms like fatigue and bone pain to identify genetic causes.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the CASR gene and identify mutations.
What is the cost of the test?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic mutations are detected. Positive results confirm genetic predisposition, while negative results suggest no mutations found.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. Genetic testing itself poses no significant health risks.
Can this test be done for newborns?
Yes, it is suitable for newborns and individuals of all ages suspected of having CASR gene-related hyperparathyroidism.
How accurate is the test?
NGS technology provides high accuracy in detecting mutations, but results should be interpreted by a genetic specialist.
What should I do if the test is positive?
Consult a healthcare provider or genetic counselor for further management, which may include monitoring, medication, or surgery.
Is genetic counseling required?
Genetic counseling is recommended before and after testing to understand implications, results, and family planning.
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.

LIMS Integration

Your Data Privacy

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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