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DNA Labs India

PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test

Short Name: PRKD1 Gene Test

Also known as: PRKD1 Gene Mutation Test, Congenital Heart Defects Genetic Test, Ectodermal Dysplasia Genetic Test

PRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS (Next-Generation Sequencing) 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 pathogenic mutations in the PRKD1 gene for accurate diagnosis of congenital heart defects and ectodermal dysplasia, facilitating personalized medical care and genetic counseling.

Test Code
5244
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 (Next-Generation Sequencing)
Step 1

Sample Collection

Clinical history review and genetic counseling recommended. Ensure informed consent is obtained.

Method: Blood collection

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile equipment.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, obtain informed consent, and review family history.
2
During the Test:Blood sample collection via venipuncture or alternative methods as specified.
3
After the Test:Wait for results (3-4 weeks), followed by genetic counseling to interpret findings and plan next steps.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the PRKD1 gene for accurate diagnosis of congenital heart defects and ectodermal dysplasia, facilitating personalized medical care and genetic counseling.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Follow aseptic techniques

Doctor's Notes

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

"Early genetic testing for PRKD1 mutations can guide management of congenital heart defects and ectodermal dysplasia, aiding in personalized treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs required for NGS
ContainerEDTA tube or FTA Card
Collection MethodBlood collection

Sample Stability

Blood sample stable for 48 hours at room temperature
FTA card stable for extended periods at room temperature
Sample Rejection Criteria:
  • Hemolyzed sample
  • Insufficient volume
  • Improperly labeled or contaminated sample

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PRKD1 gene, which may be associated with congenital heart defects and ectodermal dysplasia.
📊

Pathogenic variant detected

Consistent with diagnosis of PRKD1-related congenital heart defects and ectodermal dysplasia. Clinical correlation and genetic counseling recommended.

📊

No pathogenic variant detected

Unlikely to be caused by PRKD1 mutation. Consider other genetic or environmental factors.

⚠️ When to Consult a Doctor:

If symptoms of heart defects or ectodermal dysplasia are present, or for family planning and genetic counseling after test results.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results may have implications for family members

Risks & Considerations

  • ●Minimal risk from blood draw (e.g., bruising, infection)
  • ●Psychological impact of test results
  • ●Potential for uncertain or inconclusive findings

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Technical errors in sequencing

Compare With Similar Tests

TestPRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic TestWhole Exome SequencingTargeted Gene Panel for Cardiac Disorders
ComparisonPRKD1 Gene Congenital heart defects and ectodermal dysplasia NGS Genetic Test

Frequently Asked Questions

What is the PRKD1 Gene NGS Genetic Test?
It is a next-generation sequencing test to detect mutations in the PRKD1 gene, associated with congenital heart defects and ectodermal dysplasia.
How much does the test cost?
The test costs INR 20,000, with home sample collection available across India.
What sample is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
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, free home sample collection is offered for online bookings in many cities across India.
What are the symptoms of PRKD1 gene mutations?
Symptoms include heart defects (e.g., atrial septal defect), ectodermal dysplasia (affecting skin, hair, nails), developmental delays, intellectual disabilities, and seizures.
How accurate is the NGS test?
NGS technology provides high accuracy in detecting genetic variants, but results should be interpreted by a genetic counselor.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal screening if there is a family history of PRKD1 mutations, with appropriate genetic counseling.
What should I do if the test is positive?
Consult a healthcare provider or genetic counselor for management options, treatment plans, and family planning advice.
Is genetic counseling included?
Yes, genetic counseling is recommended and may be included as part of the test service.
Are there any risks associated with the test?
Risks are minimal, primarily related to blood draw, but psychological impact of results should be considered.
How do I book the test?
You can book the test online through DNA Labs India's website or contact them directly 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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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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