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DNA Labs India

PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test

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PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test

PRKD1 Gene Congenital heart defects and ectodermal dysplasia 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic TestPediatric🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect mutations in the PRKD1 gene associated with congenital heart defects and ectodermal dysplasia for diagnostic purposes.

Test Code
5727
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Provide clinical history and family pedigree chart.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be drawn by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling recommended. Provide detailed medical and family history.
2
During the Test:Non-invasive blood draw procedure.
3
After the Test:Resume normal activities. Monitor for any adverse effects.

About This Test

Who Should Get This Test

To detect mutations in the PRKD1 gene associated with congenital heart defects and ectodermal dysplasia for diagnostic purposes.

How to Prepare

  • Ensure patient is hydrated
  • Use sterile equipment
  • Label samples correctly

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

"This genetic test is essential for identifying mutations in the PRKD1 gene, which can lead to congenital heart defects and ectodermal dysplasia. Early detection allows for timely intervention and management."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

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

Sample Stability

Blood samples stable at room temperature for 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

Results indicate the presence or absence of mutations in the PRKD1 gene.
Positive: Pathogenic variant detected, associated with disease
Negative: No pathogenic variants detected
Variant of uncertain significance: Further testing may be needed
⚠️ When to Consult a Doctor:

If symptoms of congenital heart defects or ectodermal dysplasia are present, or if family history suggests risk.

Limitations

  • May not detect all types of mutations
  • Results require interpretation by a geneticist
  • Does not rule out other genetic conditions

Risks & Considerations

  • Minor bruising at puncture site
  • Rare risk of infection

Frequently Asked Questions

What is the PRKD1 Gene NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to detect mutations in the PRKD1 gene, associated with congenital heart defects and ectodermal dysplasia.
Who is this test recommended for?
Individuals with a family history of congenital heart defects or ectodermal dysplasia, or those exhibiting symptoms of these conditions.
What symptoms indicate the need for this test?
Symptoms include rapid breathing, cyanosis, fatigue, abnormal teeth, hair, or nails, and other signs of heart or skin disorders.
How is the sample collected for this test?
A blood sample is collected via venipuncture, or extracted DNA or a blood drop on an FTA card can be used.
What is the cost of the PRKD1 gene test?
The test costs INR 20,000, with free home sample collection available across India.
How long does it take to receive the test results?
Results are typically available within 3-4 weeks after sample collection.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
What do the test results indicate?
Results show whether pathogenic mutations in the PRKD1 gene are detected, which can confirm a diagnosis of congenital heart defects or ectodermal dysplasia.
Is genetic counseling included with the test?
Yes, genetic counseling is recommended before and after testing to discuss implications and next steps.
Are there any risks associated with this test?
Risks are minimal and may include minor bruising at the blood draw site or rare infection.
Can this test be used for prenatal diagnosis?
It may be used for prenatal screening if there is a known family history, but consultation with a genetic counselor is advised.
How can I book an appointment for this test?
You can book online through DNA Labs India's website or contact their customer service for assistance.
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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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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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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