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PORCN Gene Focal dermal hypoplasia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

PORCN Gene Focal dermal hypoplasia NGS Genetic Test

Short Name: PORCN Gene FDH NGS Test

Also known as: Focal Dermal Hypoplasia (FDH), Goltz syndrome

PORCN Gene Focal dermal hypoplasia NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology 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 diagnose Focal Dermal Hypoplasia by analyzing the PORCN gene for mutations using NGS technology, aiding in clinical management and genetic counseling.

Test Code
4940
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 Technology
Step 1

Sample Collection

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with Focal Dermal Hypoplasia.

Method: Blood draw or saliva collection

Step 2

Laboratory Analysis

Standard blood draw or saliva collection procedure performed by a trained phlebotomist.

Step 3

Report Delivery

Sample is labeled, stored appropriately, and sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Provide clinical history and undergo genetic counseling. No fasting required.
2
During the Test:Blood or saliva sample collected via standard procedure.
3
After the Test:Sample analyzed in lab; results delivered in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose Focal Dermal Hypoplasia by analyzing the PORCN gene for mutations using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • Follow FTA card instructions if using one drop blood
  • Ensure proper labeling of samples

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing Focal Dermal Hypoplasia and improving patient outcomes through personalized care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or saliva collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improper labeling

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the PORCN gene. A positive result confirms a diagnosis of Focal Dermal Hypoplasia, while a negative result may require further clinical evaluation.
Positive: Pathogenic variant detected, consistent with FDH diagnosis.
Negative: No pathogenic variants detected; clinical correlation recommended.
Variant of uncertain significance: Further testing or family studies may be needed.
⚠️ When to Consult a Doctor:

If symptoms of Focal Dermal Hypoplasia are present, such as skin abnormalities, skeletal defects, or developmental delays, consult a geneticist or healthcare provider for evaluation and testing.

Limitations

  • ⚠May not detect all genetic variants
  • ⚠Results require clinical correlation

Risks & Considerations

  • ●Minimal risk from blood draw
  • ●Potential psychological impact of results
  • ●Incidental findings possible

Interfering Factors

  • ●Poor sample quality
  • ●Contamination during collection

Frequently Asked Questions

What is the PORCN Gene Focal Dermal Hypoplasia NGS Genetic Test?
It is a next-generation sequencing test that analyzes the PORCN gene for mutations causing Focal Dermal Hypoplasia (FDH), a rare genetic disorder.
Why is this test recommended?
It is recommended to confirm a diagnosis of FDH in individuals with symptoms like skin abnormalities, skeletal defects, or developmental delays.
What are the symptoms of Focal Dermal Hypoplasia?
Symptoms include skin streaks or patches, missing fingers or toes, eye problems like cataracts, skeletal issues, and developmental delays.
How is the test performed?
The test involves collecting a blood or saliva sample, which is then analyzed using NGS technology to detect PORCN gene mutations.
What is the cost of the test?
The cost is INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings in numerous cities across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What do the results mean?
A positive result indicates a pathogenic PORCN gene mutation, confirming FDH. A negative result means no mutations were detected, but clinical correlation is advised.
Are there any risks associated with the test?
Risks are minimal, such as slight discomfort from blood draw, but there may be psychological impacts from results.
Can this test be used for prenatal diagnosis?
Prenatal testing may be possible through specialized genetic counseling, but this test is typically for postnatal diagnosis.
What should I do before getting tested?
Provide clinical history and undergo genetic counseling to draw a family pedigree chart. No fasting is required.
How accurate is the NGS genetic test?
NGS technology is highly accurate for detecting gene mutations, but results should be interpreted in conjunction with clinical findings.
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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