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CDC73 Gene Parathyroid adenoma with cystic changes, familial NGS Genetic Test

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CDC73 Gene Parathyroid adenoma with cystic changes, familial NGS Genetic Test

Short Name: CDC73 Gene NGS Test

Also known as: Familial parathyroid adenoma with cystic changes, CDC73-related hyperparathyroidism, Hyperparathyroidism-jaw tumor syndrome

CDC73 Gene Parathyroid adenoma with cystic changes, familial 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.

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 associated with familial parathyroid adenoma with cystic changes, enabling early diagnosis, genetic counseling, personalized management, and informed family planning.

Test Code
5480
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 is required. Inform the healthcare provider about any medications, recent blood transfusions, or medical conditions.

Method: Venipuncture

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising. Avoid strenuous activity for a few hours.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the implications, benefits, and limitations of genetic testing. Provide a detailed family history.
2
During the Test:The test involves a simple blood draw; the sample is processed in the lab for DNA extraction and NGS analysis of the CDC73 gene.
3
After the Test:Results will be available in 3-4 weeks. Follow up with a healthcare provider or genetic counselor to interpret results and discuss next steps.

About This Test

Who Should Get This Test

To detect mutations in the CDC73 gene associated with familial parathyroid adenoma with cystic changes, enabling early diagnosis, genetic counseling, personalized management, and informed family planning.

How to Prepare

  • No fasting required for this test
  • Bring a valid ID and doctor's prescription if available
  • Stay hydrated and wear loose clothing for easy access to the arm
  • Avoid alcohol or caffeine before sample collection if possible

Doctor's Notes

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

"Genetic testing for CDC73 mutations is essential for identifying familial cases and guiding treatment to prevent complications like hypercalcemia and bone fractures."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples are stable for 48 hours at room temperature (15-30°C)
Extracted DNA can be stored at -20°C for long-term stability
Sample Rejection Criteria:
  • Hemolyzed or lipemic samples
  • Insufficient sample volume (less than 3 mL)
  • Improperly labeled or unlabeled samples
  • Samples collected in incorrect containers

Understanding Your Results

Results indicate whether pathogenic mutations in the CDC73 gene are detected. A positive result confirms a genetic predisposition, while a negative result may require further clinical evaluation. Variants of uncertain significance (VUS) need careful interpretation.
Positive: Pathogenic variant detected – indicates a genetic cause for parathyroid adenoma, recommend genetic counseling, family screening, and regular monitoring.
Negative: No pathogenic variant detected – does not rule out other causes; clinical correlation and additional tests may be needed.
Variant of Uncertain Significance (VUS) – further research is required; clinical management should be based on symptoms and family history.
⚠️ When to Consult a Doctor:

If you have a family history of parathyroid disorders, symptoms of hypercalcemia, or if genetic testing reveals a mutation, consult an endocrinologist or geneticist for personalized management and family screening.

Limitations

  • ⚠May not detect all types of mutations (e.g., large deletions or duplications)
  • ⚠Variants of uncertain significance (VUS) may be reported, requiring further evaluation
  • ⚠Does not rule out other genetic or non-genetic causes of parathyroid disorders
  • ⚠Results should be interpreted in conjunction with clinical findings

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, soreness, infection, or fainting
  • ●Psychological impact of genetic results, such as anxiety or stress
  • ●Potential for incidental findings unrelated to the test indication

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed or lipemic blood samples
  • ●Recent blood transfusions

Compare With Similar Tests

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Frequently Asked Questions

What is the CDC73 gene test?
The CDC73 gene test is a genetic test that uses next-generation sequencing (NGS) to detect mutations in the CDC73 gene, which are associated with familial parathyroid adenoma with cystic changes and hyperparathyroidism-jaw tumor syndrome.
Who should consider getting this test?
Individuals with a family history of parathyroid adenoma, symptoms of hypercalcemia (e.g., fatigue, nausea, bone pain), or those diagnosed with parathyroid adenoma with cystic changes should consider this test for confirmation and family screening.
How is the test performed?
The test involves collecting a blood sample, which is sent to the lab for DNA extraction and NGS analysis of the CDC73 gene. It can also be done using extracted DNA or a blood drop on an FTA card.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the CDC73 gene, confirming a genetic predisposition to familial parathyroid adenoma. This helps in diagnosis, treatment planning, and genetic counseling for family members.
What if the result is negative?
A negative result means no pathogenic variants were detected in the CDC73 gene. However, it does not rule out other genetic or non-genetic causes; clinical correlation and additional tests may be recommended.
Is genetic counseling required before or after the test?
Yes, genetic counseling is recommended to understand the implications of testing, interpret results, and discuss family risk. DNA Labs India offers counseling as part of the test package.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection. They can be accessed online, via email, or WhatsApp.
Is the test covered by insurance?
Coverage varies by insurance provider and policy. It is advisable to check with your insurer. DNA Labs India offers the test at a discounted price of INR 20,000 with home collection.
What are the risks of the test?
The test has minimal risks, primarily from blood draw, such as bruising or infection. There may be psychological impacts from genetic results, which can be addressed through counseling.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across India. You can book online, and a phlebotomist will visit your location.
What is the cost of the test?
The cost of the CDC73 Gene NGS Genetic Test is INR 20,000, which includes sample collection, analysis, and report delivery.
How accurate is the NGS genetic test?
NGS is a highly accurate technology for detecting genetic mutations, with high sensitivity and specificity. However, accuracy depends on sample quality and the presence of variants; results should be interpreted by a genetic specialist.
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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✓ 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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