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AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test

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AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test

Short Name: AP2S1 Gene HHC Type 3 NGS Test

Also known as: Familial Hypocalciuric Hypercalcemia Type 3, FHH3, AP2S1-Related Hypercalcemia

AP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 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 TestAll Ages🏠 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 identify mutations in the AP2S1 gene that cause familial hypocalciuric hypercalcemia type 3, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and their families.

Test Code
4709
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

Provide clinical history and undergo genetic counseling to draw a pedigree chart of family members affected with hypocalciuric hypercalcemia.

Method: Venipuncture or DNA extraction from blood

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or a drop of blood on FTA card.

Step 3

Report Delivery

Sample will be sent to the laboratory for analysis. Results will be available in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment.
2
During the Test:Blood sample collection and DNA extraction.
3
After the Test:Analysis using NGS technology and report generation.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the AP2S1 gene that cause familial hypocalciuric hypercalcemia type 3, enabling accurate diagnosis, personalized management, and genetic counseling for affected individuals and their families.

How to Prepare

  • Avoid strenuous activity before sample collection
  • Inform about any medications or supplements
  • Ensure proper labeling of sample

Doctor's Notes

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

"This test is crucial for diagnosing familial hypocalciuric hypercalcemia type 3, aiding in management and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or DNA extraction from blood

Sample Stability

Blood samples stable at room temperature for 24 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Improperly labeled sample

Understanding Your Results

Results of the AP2S1 Gene NGS Genetic Test indicate the presence or absence of mutations associated with familial hypocalciuric hypercalcemia type 3.
📊

No pathogenic variants detected

Negative for AP2S1 gene mutations. Clinical correlation recommended.

📊

Pathogenic variant detected

Positive for AP2S1 gene mutation. Confirms diagnosis of familial hypocalciuric hypercalcemia type 3. Genetic counseling advised.

⚠️ When to Consult a Doctor:

If you experience symptoms of hypercalcemia, have a family history of the disorder, or if genetic test results are positive.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Requires genetic counseling for interpretation
  • ⚠Not a screening test for general population

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Possible discomfort or bruising at puncture site
  • ●Emotional impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Compare With Similar Tests

TestAP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic TestSerum Calcium TestUrine Calcium TestCASR Gene Test
ComparisonAP2S1 Gene Hypocalciuric hypercalcemia, familial type 3 NGS Genetic Test

Frequently Asked Questions

What is AP2S1 Gene Hypocalciuric Hypercalcemia, Familial Type 3?
It is a rare genetic disorder caused by mutations in the AP2S1 gene, leading to high calcium levels in the blood due to impaired kidney calcium transport.
What are the symptoms of this disorder?
Symptoms can include frequent urination, increased thirst, abdominal pain, bone pain or fractures, kidney stones, and fatigue or weakness.
How is this disorder diagnosed?
Diagnosis involves blood and urine tests to measure calcium levels, followed by genetic testing like the NGS Genetic Test to confirm mutations in the AP2S1 gene.
What is the cost of the NGS Genetic Test?
The cost of the AP2S1 Gene NGS Genetic Test at DNA Labs India is INR 20000.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates the presence of a pathogenic variant in the AP2S1 gene, confirming the diagnosis of familial hypocalciuric hypercalcemia type 3.
Is there a cure for this disorder?
There is no cure, but treatment focuses on managing symptoms and preventing complications through medications, dietary changes, and monitoring.
Can this disorder be prevented?
As a genetic disorder, it cannot be prevented, but early diagnosis and management can reduce complications.
Who should get tested?
Individuals with symptoms of hypercalcemia, a family history of the disorder, or unexplained calcium abnormalities should consider testing.
Is genetic counseling necessary?
Yes, genetic counseling is recommended before and after testing to understand the implications, family risks, and management options.
How accurate is the NGS Genetic Test?
The NGS Genetic Test is highly accurate for detecting mutations in the AP2S1 gene, but it may not detect all types of variants, and clinical correlation is advised.
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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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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