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CDC73 Gene Hyperparathyroidism type 2, familial NGS Genetic Test

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CDC73 Gene Hyperparathyroidism type 2, familial NGS Genetic Test

Short Name: CDC73 Gene Test for Hyperparathyroidism Type 2

Also known as: HRPT2 Gene Test, Familial Hyperparathyroidism Type 2 Genetic Test

CDC73 Gene Hyperparathyroidism type 2, familial 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.

Next-Generation Sequencing (NGS)🏠 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 detect mutations in the CDC73 gene for the diagnosis of familial hyperparathyroidism type 2 and to guide clinical management.

Test Code
5429
Price
₹20,000
Sample Type
Blood, Extracted DNA, or FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation is required. Inform your doctor about any medications or supplements you are taking. A genetic counseling session is advised to discuss test implications.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

A blood sample will be collected via venipuncture from a vein in the arm, or a finger prick for FTA card. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bleeding. You may resume normal activities immediately.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to understand the test's purpose, benefits, and limitations. Provide informed consent and discuss family history.
2
During the Test:The test involves DNA extraction from the sample and sequencing using NGS technology to analyze the CDC73 gene for mutations.
3
After the Test:Results will be available in 3-4 weeks. Review them with your healthcare provider to determine next steps, such as treatment or family screening.

About This Test

Who Should Get This Test

To detect mutations in the CDC73 gene for the diagnosis of familial hyperparathyroidism type 2 and to guide clinical management.

How to Prepare

  • Fasting is not required for this test
  • Bring a valid ID and doctor's prescription
  • Avoid strenuous exercise before sample collection
  • Ensure proper labeling of the sample

Doctor's Notes

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

"Genetic testing for CDC73 mutations is essential for diagnosing familial hyperparathyroidism type 2 and guiding treatment decisions."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or FTA Card
Sample Volume5 mL blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Sample Stability

Blood sample stable at room temperature for up to 24 hours
Extracted DNA stable at -20°C for long-term storage
FTA card samples stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Improperly labeled or contaminated samples
  • Samples collected without proper consent or documentation

Understanding Your Results

Results indicate the presence or absence of mutations in the CDC73 gene. A positive result suggests a genetic predisposition to familial hyperparathyroidism type 2, while a negative result may not completely exclude the condition.
Positive result: Pathogenic mutation detected, indicating increased risk for hyperparathyroidism type 2 and related tumors
Negative result: No pathogenic variants found, but clinical evaluation should continue if symptoms persist
Variant of uncertain significance (VUS): Further testing or family studies may be needed for clarification
⚠️ When to Consult a Doctor:

Consult an endocrinologist or genetic counselor if you have symptoms of hyperparathyroidism, a family history of the condition, or after receiving test results for appropriate management and follow-up.

Limitations

  • ⚠May not detect all types of genetic variations, such as large deletions or duplications
  • ⚠Results require correlation with clinical and family history
  • ⚠Genetic counseling is recommended for interpretation
  • ⚠Test does not rule out other causes of hyperparathyroidism

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising, swelling, or infection at the puncture site
  • ●Psychological impact of genetic results; counseling is recommended

Interfering Factors

  • ●Hemolyzed or lipemic blood samples
  • ●Contaminated or degraded DNA
  • ●Recent blood transfusions may affect results
  • ●Improper sample storage or handling

Frequently Asked Questions

What is the CDC73 Gene Hyperparathyroidism Type 2 NGS Genetic Test?
This test uses next-generation sequencing to detect mutations in the CDC73 gene, which is associated with familial hyperparathyroidism type 2, an inherited condition causing parathyroid tumors.
Why is this test recommended?
It is recommended for individuals with a family history of hyperparathyroidism, symptoms like fatigue or kidney stones, or elevated parathyroid hormone levels to confirm a genetic diagnosis.
How is the test performed?
A blood or DNA sample is collected and analyzed using NGS technology to sequence the CDC73 gene for mutations.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test in numerous cities across India.
How long does it take to get results?
Results are typically available within 3-4 weeks after sample collection.
What do the results mean?
A positive result indicates a mutation in the CDC73 gene, suggesting risk for hyperparathyroidism type 2. A negative result means no mutation was detected, but clinical correlation is needed.
Is the test accurate?
Yes, NGS technology provides high accuracy for detecting genetic mutations, but results should be interpreted by a healthcare professional.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw. Genetic results may have psychological impacts, so counseling is advised.
How should I prepare for the test?
No special preparation is needed. Inform your doctor about medications and attend a genetic counseling session if possible.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
What should I do if the test is positive?
Consult an endocrinologist or genetic counselor for further evaluation, treatment planning, and family screening.
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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✓ 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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