PTH Gene Hypoparathyroidism NGS Genetic Test
Short Name: PTH Hypoparathyroidism NGS Test
Also known as: PTH Gene Mutation Test, Hypoparathyroidism Genetic Panel, Parathyroid Hormone Gene Analysis
PTH Gene Hypoparathyroidism NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the PTH Gene Hypoparathyroidism NGS Genetic Test is to identify genetic mutations in the PTH gene that cause hypoparathyroidism. This aids in confirming diagnosis, guiding treatment decisions, assessing recurrence risk for family members, and facilitating genetic counseling.
- Test Code
- 5441
- 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
- NGS Technology
Sample Collection
No specific preparation required. Provide clinical history and family pedigree information during genetic counseling.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick. Ensure proper labeling and handling.
Report Delivery
Apply pressure to the puncture site to prevent bruising. Store samples as per guidelines for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the PTH Gene Hypoparathyroidism NGS Genetic Test is to identify genetic mutations in the PTH gene that cause hypoparathyroidism. This aids in confirming diagnosis, guiding treatment decisions, assessing recurrence risk for family members, and facilitating genetic counseling.
How to Prepare
- Use sterile equipment for blood collection
- Label samples with patient details and test information
- Transport samples at ambient temperature unless specified
- For FTA cards, follow manufacturer instructions for blood application
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This test is essential for diagnosing genetic hypoparathyroidism, enabling personalized treatment plans and family counseling. Early detection can prevent complications like seizures and bone disorders."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated or degraded samples
Understanding Your Results
Pathogenic variant detected
Confirms genetic hypoparathyroidism; consider family screening and tailored treatment.
Likely pathogenic variant detected
High probability of genetic cause; recommend genetic counseling and monitoring.
Variant of uncertain significance (VUS)
Uncertain clinical significance; may require additional testing or follow-up.
No pathogenic variants detected
Genetic cause unlikely; evaluate for other etiologies such as autoimmune or surgical causes.
Consult a doctor if you experience symptoms of hypoparathyroidism, have a family history of the condition, or receive abnormal test results for further management and genetic counseling.
Limitations
- ⚠May not detect all genetic mutations due to technical limitations
- ⚠Results require interpretation by a genetic specialist
- ⚠Does not rule out non-genetic causes of hypoparathyroidism
- ⚠Turnaround time of 3-4 weeks may delay diagnosis in urgent cases
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection or fainting
- ●Psychological impact of genetic results
Interfering Factors
- ●Sample contamination or degradation
- ●Recent blood transfusions affecting DNA quality
- ●Use of certain medications that may alter gene expression
- ●Technical errors in sequencing or analysis
Compare With Similar Tests
| Test | PTH Gene Hypoparathyroidism NGS Genetic Test | Serum Calcium Test | Parathyroid Hormone (PTH) Test | Vitamin D Test | Genetic Counseling Session |
|---|---|---|---|---|---|
| Comparison | PTH Gene Hypoparathyroidism NGS Genetic Test |
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