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CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic Test

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CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic Test

CDH3 Gene Ectodermal dysplasia, ectrodactyly, and macular dystrophy NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS on Blood, 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To confirm mutations in the CDH3 gene for diagnosis of ectodermal dysplasia, ectrodactyly, and macular dystrophy, aiding in clinical management and genetic counseling.

Test Code
4903
Price
₹20,000
Sample Type
Blood, Extracted DNA, or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
NGS
Step 1

Sample Collection

Clinical history review and genetic counseling recommended prior to testing.

Step 2

Laboratory Analysis

Your sample is analyzed using NGS in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are recommended.
2
During the Test:Sample collection via blood draw, saliva, or FTA card.
3
After the Test:Wait for report delivery in 3-4 weeks and consult with a healthcare professional for interpretation.

About This Test

Who Should Get This Test

To confirm mutations in the CDH3 gene for diagnosis of ectodermal dysplasia, ectrodactyly, and macular dystrophy, aiding in clinical management and genetic counseling.

How to Prepare

  • Provide a blood sample, extracted DNA, or one drop of blood on an FTA card as per laboratory guidelines.

Doctor's Notes

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

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood, Extracted DNA, or One drop Blood on FTA Card

Understanding Your Results

Results indicate the presence or absence of mutations in the CDH3 gene, which are associated with ectodermal dysplasia, ectrodactyly, and macular dystrophy.
Positive: Pathogenic variant detected, confirming genetic disorder and guiding clinical management.
Negative: No pathogenic variants detected, reducing likelihood of CDH3-related conditions.
Variant of uncertain significance: Further testing or family studies may be required for clarification.
⚠️ When to Consult a Doctor:

If symptoms of ectodermal dysplasia, ectrodactyly, or macular dystrophy are present, or for family planning and genetic counseling.

Risks & Considerations

  • ●Minor bruising at blood draw site
  • ●Psychological impact of genetic results

Frequently Asked Questions

What is the CDH3 Gene Test?
It is an NGS genetic test to detect mutations in the CDH3 gene, associated with ectodermal dysplasia, ectrodactyly, and macular dystrophy.
Who should take this test?
Individuals with symptoms such as skin, hair, nail abnormalities, ectrodactyly, visual impairment, or a family history of CDH3 mutations.
How is the test performed?
A blood or saliva sample is collected and analyzed using Next-Generation Sequencing technology.
What is the cost of the test?
The test costs INR 20000 in India.
How long does it take to get results?
Reports are typically available in 3 to 4 weeks.
Is home collection available?
Yes, free home sample collection is offered for online bookings across India.
What are the symptoms of CDH3 gene disorders?
Symptoms include abnormalities in skin, hair, nails, missing or deformed fingers/toes, visual impairment, dental issues, and sweat gland dysfunction.
Can this test be used for prenatal diagnosis?
Consult with a genetic counselor; prenatal testing may be possible in certain cases.
What does a positive result mean?
A positive result indicates a pathogenic mutation in the CDH3 gene, confirming the genetic disorder.
What are the risks of the test?
Risks are minimal, such as minor bruising from blood draw, but psychological impact of results should be considered.
Is genetic counseling recommended?
Yes, genetic counseling is advised before and after testing to understand implications and family planning.
How accurate is the NGS technology?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted by qualified professionals.
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

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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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