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EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test

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EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive NGS Genetic Test

Short Name: EDARADD Genetic Test

Also known as: Hypohidrotic Ectodermal Dysplasia Type 4, EDARADD-Related Ectodermal Dysplasia

EDARADD Gene Ectodermal dysplasia, hypohidrotic, autosomal recessive 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 Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

The purpose of the EDARADD gene NGS genetic test is to identify mutations in the EDARADD gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia. This test aids in confirming diagnosis, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

Test Code
4907
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 hypohidrotic ectodermal dysplasia are required prior to testing.

Method: Venipuncture

Step 2

Laboratory Analysis

A blood sample is collected via venipuncture or a drop of blood on an FTA card.

Step 3

Report Delivery

Sample is processed for DNA extraction and NGS analysis. Results are available in 3 to 4 weeks.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are essential before testing.
2
During the Test:Blood sample collection is a minimally invasive procedure.
3
After the Test:Results are analyzed and reported with genetic counseling support.

About This Test

Who Should Get This Test

The purpose of the EDARADD gene NGS genetic test is to identify mutations in the EDARADD gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia. This test aids in confirming diagnosis, guiding treatment strategies, and facilitating genetic counseling for affected individuals and their families.

How to Prepare

  • Ensure proper identification of the patient.
  • Use sterile collection techniques.
  • Label samples accurately with patient details.

Doctor's Notes

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

"Early genetic testing for EDARADD mutations is crucial for accurate diagnosis, management, and genetic counseling in families affected by hypohidrotic ectodermal dysplasia."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml blood
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood samples: stable for 48 hours at room temperature.
FTA cards: stable at room temperature for extended periods.
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Incorrect labeling or documentation

Understanding Your Results

Results from the EDARADD gene NGS test indicate the presence or absence of pathogenic mutations associated with hypohidrotic ectodermal dysplasia.
📊

Pathogenic variant detected

Confirms diagnosis of autosomal recessive hypohidrotic ectodermal dysplasia due to EDARADD mutations. Genetic counseling recommended.

📊

No pathogenic variant detected

EDARADD mutations not identified. Clinical correlation and further testing may be considered if symptoms persist.

📊

Variant of uncertain significance

Further evaluation and family studies may be needed for clinical interpretation.

⚠️ When to Consult a Doctor:

Consult a doctor if an individual exhibits symptoms such as reduced sweating, sparse hair, or dental abnormalities, or if there is a family history of ectodermal dysplasia.

Limitations

  • ⚠This test may not detect all possible mutations in the EDARADD gene.
  • ⚠Results should be interpreted in conjunction with clinical findings and family history.

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Incorrect sample type or collection method

Frequently Asked Questions

What is the EDARADD gene?
The EDARADD gene provides instructions for making a protein involved in the development of ectodermal structures like skin, hair, and teeth. Mutations in this gene can cause hypohidrotic ectodermal dysplasia.
What are the symptoms of hypohidrotic ectodermal dysplasia?
Symptoms include reduced sweating, sparse hair, missing or malformed teeth, thin skin, and difficulty regulating body temperature. Some individuals may also have hearing loss or cleft palate.
How is hypohidrotic ectodermal dysplasia diagnosed?
Diagnosis is based on clinical symptoms, family history, and genetic testing to confirm mutations in genes like EDARADD.
What does the NGS genetic test involve?
The test uses next-generation sequencing to analyze the EDARADD gene for mutations. It requires a blood sample or DNA extract.
What is the cost of the EDARADD gene test at DNA Labs India?
The cost is INR 20000, which includes sample collection, analysis, and a genetic counseling report.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What sample types are accepted?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted.
Is fasting required for this test?
No, fasting is not required for the EDARADD gene test.
Can this test be used for prenatal diagnosis?
This test is primarily for postnatal diagnosis. For prenatal testing, consult a genetic counselor for appropriate options.
What if the test results are negative but symptoms persist?
If symptoms persist, further clinical evaluation and testing for other genes may be recommended. Consult your healthcare provider.
Is genetic counseling provided with the test?
Yes, a genetic counseling session is recommended before testing to discuss family history and implications of results.
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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