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DNA Labs India

CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic Test

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CDC73 Gene Hyperparathyroidism type 1, familial NGS Genetic Test

Short Name: CDC73 Hyperparathyroidism NGS Test

Also known as: Familial Hyperparathyroidism type 1 genetic test, CDC73 mutation test, Parafibromin gene test

CDC73 Gene Hyperparathyroidism type 1, familial 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.

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 detect mutations in the CDC73 gene for diagnosis of Familial Hyperparathyroidism type 1, enabling early management and genetic counseling.

Test Code
5425
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
Step 1

Sample Collection

No specific preparation required. Genetic counseling is recommended prior to testing.

Method: Venipuncture or FTA card spot

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm or a spot on an FTA card.

Step 3

Report Delivery

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

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session recommended to discuss family history and test implications.
2
During the Test:Sample collection via blood draw or FTA card; process takes about 15-30 minutes.
3
After the Test:Results available in 3-4 weeks; follow-up with geneticist for interpretation.

About This Test

Who Should Get This Test

To detect mutations in the CDC73 gene for diagnosis of Familial Hyperparathyroidism type 1, enabling early management and genetic counseling.

How to Prepare

  • Ensure proper identification of the patient
  • Use sterile equipment for blood draw
  • Label samples correctly
  • Store samples at ambient temperature if using FTA card

Doctor's Notes

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

"This genetic test is essential for identifying carriers and early intervention in families with a history of hyperparathyroidism."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 mL of blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card spot

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card samples stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling
  • Contaminated samples

Understanding Your Results

Results indicate the presence or absence of mutations in the CDC73 gene. Consult a geneticist for detailed interpretation.
📊

No pathogenic variants detected

Normal; no mutation associated with Familial Hyperparathyroidism type 1

📊

Pathogenic variant detected

Positive for mutation; indicates increased risk for the condition

📊

Variant of uncertain significance

Further testing or family studies may be needed

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms of hyperparathyroidism, a family history of the condition, or after receiving test results for management guidance.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Results require interpretation by a geneticist
  • ⚠Not a standalone diagnostic tool; clinical correlation needed
  • ⚠Limited to known variants in the CDC73 gene

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Technical errors in sequencing
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is the CDC73 Gene Hyperparathyroidism type 1 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to detect mutations in the CDC73 gene, associated with Familial Hyperparathyroidism type 1.
What are the symptoms of Familial Hyperparathyroidism type 1?
Symptoms include bone pain, kidney stones, fatigue, muscle weakness, frequent urination, and depression.
How is the test performed?
A blood sample or DNA extract is analyzed using NGS technology to sequence the CDC73 gene.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, free home sample collection is available across India for online bookings.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks.
What does a positive result mean?
A positive result indicates a mutation in the CDC73 gene, increasing the risk for Familial Hyperparathyroidism type 1.
What are the risks of the test?
Risks are minimal, such as bruising from blood draw, but genetic results may have psychological implications.
Is genetic counseling required?
Yes, genetic counseling is recommended before and after the test to understand results and implications.
Can this test be used for prenatal diagnosis?
This test is typically for diagnostic purposes; prenatal testing may require specialized procedures.
What other tests are related to hyperparathyroidism?
Related tests include serum calcium, PTH test, parathyroid ultrasound, and sestamibi scan.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting genetic variants, but results should be interpreted by a geneticist.
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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