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PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test

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PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test

Short Name: PRKAR1A Gene Test

Also known as: Pigmented Nodular Adrenocortical Disease Type 1, PNAD Type 1, Primary Pigmented Nodular Adrenocortical Disease

PRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary 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 Test🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose Pigmented Nodular Adrenocortical Disease Type 1 by identifying mutations in the PRKAR1A gene, guide treatment and management strategies, and assess risk for family members.

Test Code
5482
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 specific preparation required. Provide clinical history and family pedigree information.

Method: Venipuncture for blood samples

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Store sample as per instructions.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide detailed clinical history and family pedigree. No fasting required.
2
During the Test:Blood sample collection via venipuncture or FTA card. Procedure is quick and minimally invasive.
3
After the Test:Resume normal activities. Monitor puncture site for any signs of infection.

About This Test

Who Should Get This Test

To diagnose Pigmented Nodular Adrenocortical Disease Type 1 by identifying mutations in the PRKAR1A gene, guide treatment and management strategies, and assess risk for family members.

How to Prepare

  • Ensure proper labeling of samples
  • Use sterile collection tubes
  • Transport samples at ambient room temperature

Doctor's Notes

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

"This test is crucial for diagnosing rare genetic disorders affecting adrenal function, aiding in early intervention and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture for blood samples

Sample Stability

Blood sample stable for 24 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the PRKAR1A gene. Positive results confirm diagnosis of Pigmented Nodular Adrenocortical Disease Type 1, while negative results may require further clinical evaluation.
📊

No pathogenic variant detected

Negative for PRKAR1A gene mutations; clinical correlation recommended

📊

Pathogenic variant detected

Positive for PRKAR1A gene mutation; confirms diagnosis and guides management

⚠️ When to Consult a Doctor:

Consult a doctor if you have symptoms like high blood pressure, weight gain, or muscle weakness, or if you have a family history of adrenal disorders. After receiving test results, consult for personalized treatment plans.

Limitations

  • May not detect all possible mutations in the PRKAR1A gene
  • Requires genetic counseling for proper interpretation
  • Results should be correlated with clinical findings

Risks & Considerations

  • Minimal risks from blood draw, such as bruising or infection
  • No significant risks associated with genetic testing itself

Interfering Factors

  • Sample contamination
  • Technical errors during sequencing
  • Insufficient DNA quality

Compare With Similar Tests

TestPRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic Test
ComparisonPRKAR1A Gene Pigmented nodular adrenocortical disease type 1, primary NGS Genetic TestMeasures adrenal function but does not identify genetic mutationsAssesses hormone levels but not specific genetic causesVisualizes adrenal nodules but cannot confirm genetic etiologyTests for related disorders but targets different genes

Frequently Asked Questions

What is the PRKAR1A Gene Test?
It is a genetic test that uses NGS technology to detect mutations in the PRKAR1A gene, associated with Pigmented Nodular Adrenocortical Disease Type 1.
Who should consider this test?
Individuals with symptoms like high blood pressure, weight gain, or muscle weakness, or those with a family history of adrenal disorders.
How is the test performed?
A blood sample is collected and analyzed using Next-Generation Sequencing to identify PRKAR1A gene mutations.
What is the cost of the test?
The test costs INR 20000, with free home sample collection available across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
What are the symptoms of Pigmented Nodular Adrenocortical Disease Type 1?
Symptoms include high blood pressure, weight gain, muscle weakness, diabetes, increased risk of infections, irregular menstrual periods, and decreased fertility.
How is the disorder inherited?
It is inherited in an autosomal dominant pattern, meaning a single mutated gene copy from one parent can cause the disorder.
What are the treatment options after diagnosis?
Treatment may involve medications to manage hormone levels, surgical intervention, and regular monitoring. Genetic counseling is recommended.
Is genetic counseling provided with the test?
Yes, DNA Labs India offers genetic counseling services to help interpret results and make informed health decisions.
What is the accuracy of the NGS test?
NGS technology is highly accurate for detecting genetic mutations, but results should be correlated with clinical findings.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising. Genetic testing itself poses no physical risks.
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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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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