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IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic Test

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IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency NGS Genetic Test

Short Name: IKBKG Gene NGS Test

IKBKG Gene Ectodermal dysplasia, hypohidrotic, with immune deficiency 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 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 mutations in the IKBKG gene responsible for ectodermal dysplasia with immune deficiency, enabling accurate diagnosis, management, and genetic counseling.

Test Code
4910
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
Next Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended before testing. Provide clinical history and family pedigree.

Method: Venipuncture or finger prick

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture or finger prick for FTA card.

Step 3

Report Delivery

Apply pressure to the puncture site. Sample will be sent to the lab for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Schedule a genetic counseling session to discuss the test, implications, and family history.
2
During the Test:A blood sample will be drawn, which is a quick and minimally invasive procedure.
3
After the Test:Wait for the report, which will be delivered in 3-4 weeks. Discuss results with your healthcare provider.

About This Test

Who Should Get This Test

To detect mutations in the IKBKG gene responsible for ectodermal dysplasia with immune deficiency, enabling accurate diagnosis, management, and genetic counseling.

How to Prepare

  • No fasting required for this test.
  • Bring identification and doctor's prescription.
  • Inform about any medications or conditions.

Doctor's Notes

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

"Early genetic testing for IKBKG mutations can guide treatment and family planning for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or finger prick

Understanding Your Results

Results indicate the presence or absence of mutations in the IKBKG gene. A positive result confirms the diagnosis, while a negative result may require further testing.
📊

Pathogenic variant detected

Confirms diagnosis of IKBKG-related ectodermal dysplasia with immune deficiency.

📊

No pathogenic variant detected

Unlikely to have the condition, but clinical correlation is needed.

📊

Variant of uncertain significance

Further testing or family studies may be required.

⚠️ When to Consult a Doctor:

If you experience symptoms such as missing teeth, sparse hair, inability to sweat, or frequent infections, consult a doctor or genetic counselor.

Risks & Considerations

  • ●Minor bruising at puncture site
  • ●Rare risk of infection

Frequently Asked Questions

What is IKBKG Gene Ectodermal Dysplasia with Immune Deficiency?
It is a rare genetic disorder caused by mutations in the IKBKG gene, affecting skin, hair, teeth, sweat glands, and immune function.
What are the common symptoms of this condition?
Symptoms include abnormal teeth, sparse hair, reduced sweating, frequent infections, skin abnormalities, and difficulty regulating body temperature.
How is the IKBKG Gene Test performed?
The test uses Next Generation Sequencing (NGS) to analyze the IKBKG gene from a blood or saliva sample.
What is the cost of the IKBKG Gene NGS Genetic Test in India?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection across many cities in India.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result indicate?
A positive result confirms the presence of a pathogenic mutation in the IKBKG gene, diagnosing the condition.
Can children undergo this genetic test?
Yes, the test can be performed on individuals of all ages, including children, with appropriate consent.
Is genetic counseling recommended before testing?
Yes, genetic counseling is advised to understand the implications, inheritance patterns, and family risks.
What are the risks associated with the test?
The test involves a simple blood draw with minimal risks such as bruising or rare infection.
How accurate is NGS genetic testing for IKBKG mutations?
NGS is highly accurate for detecting genetic mutations, but results should be interpreted in clinical context.
What should I do after receiving the test results?
Discuss the results with your healthcare provider or genetic counselor for appropriate management and family planning.
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.

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✓ 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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