Skip to main content
DNA Labs India

IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

IKBKG Gene Incontinentia pigmenti type 2 NGS Genetic Test

Short Name: IKBKG Gene IP2 NGS Test

Also known as: Bloch-Sulzberger syndrome, IP2

IKBKG Gene Incontinentia pigmenti type 2 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 TestFemaleInfancy to Adulthood🏠 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

The purpose of this test is to detect pathogenic mutations in the IKBKG gene to confirm a diagnosis of Incontinentia pigmenti type 2, evaluate genetic risk, and inform clinical management and family counseling.

Test Code
5035
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

Provide detailed clinical history of the patient and undergo a genetic counseling session to draw a pedigree chart of affected family members.

Method: Venipuncture

Step 2

Laboratory Analysis

A standard blood draw is performed by a trained phlebotomist; alternatively, a drop of blood on an FTA card may be used.

Step 3

Report Delivery

The sample is processed in the laboratory for DNA extraction and NGS analysis; results are reviewed by geneticists.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are recommended before sample collection.
2
During the Test:The test involves a simple blood draw; no special procedures are required during testing.
3
After the Test:Results are available in 3-4 weeks; follow-up with a healthcare provider for interpretation and management.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic mutations in the IKBKG gene to confirm a diagnosis of Incontinentia pigmenti type 2, evaluate genetic risk, and inform clinical management and family counseling.

How to Prepare

  • Ensure the patient's clinical history is documented
  • Schedule a genetic counseling session prior to testing
  • Use sterile equipment for blood collection
  • Label samples correctly with patient details

Doctor's Notes

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

"Genetic testing for IKBKG gene mutations is crucial for confirming Incontinentia pigmenti type 2, especially in females with characteristic skin lesions and neurological symptoms, enabling early management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood samples: Stable for 48 hours at room temperature
Extracted DNA: Stable for years if stored properly at -20°C
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect labeling or missing patient information

Understanding Your Results

Results from the IKBKG Gene NGS Genetic Test are interpreted by clinical geneticists to identify mutations associated with Incontinentia pigmenti type 2.
Negative result: No pathogenic variants detected; does not rule out other genetic causes
Positive result: Pathogenic variant identified; confirms diagnosis of IP2
Variant of Uncertain Significance: Further testing or family studies may be needed
Results should be correlated with clinical findings and family history
⚠️ When to Consult a Doctor:

Consult a doctor if you or your child exhibit symptoms such as skin blistering, pigment changes, dental issues, or neurological problems, or if there is a family history of Incontinentia pigmenti type 2.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or intronic variants
  • ⚠Results require clinical correlation and genetic counseling for interpretation
  • ⚠Cannot predict disease severity or progression with certainty

Risks & Considerations

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

Interfering Factors

  • ●Poor sample quality or insufficient DNA quantity
  • ●Contamination during sample collection or processing
  • ●Hemolyzed or degraded blood samples

Frequently Asked Questions

What is the IKBKG Gene Incontinentia Pigmenti Type 2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the IKBKG gene for mutations causing Incontinentia pigmenti type 2, a rare genetic disorder affecting skin, hair, teeth, and the nervous system.
Who should consider this test?
Individuals with symptoms like skin blistering in infancy, pigment changes, dental abnormalities, or neurological issues, and those with a family history of IP2 should consider this test.
What is the cost of the test?
The test costs INR 20000 at DNA Labs India, with home sample collection available across India.
How is the test performed?
A blood sample is collected via venipuncture or using an FTA card, and DNA is extracted for NGS analysis of the IKBKG gene.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is the test covered by insurance?
This test is typically not covered by insurance, but DNA Labs India offers financing options. Check with your provider for details.
What do the results mean?
A positive result confirms a diagnosis of IP2, while a negative result may indicate no pathogenic variants in the IKBKG gene. Genetic counseling is recommended for interpretation.
Are there any risks associated with the test?
The test involves minimal risks from blood draw, such as bruising or discomfort; serious complications are rare.
Can this test be used for prenatal diagnosis?
Yes, it can be used for prenatal or preconception genetic counseling in families with a history of IP2, but consult a geneticist for guidance.
What is the accuracy of the test?
The test uses advanced NGS technology with high accuracy for detecting mutations, but results should be correlated with clinical findings.
How do I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for home sample collection.
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.

Related Tests

Nx Gen Sequencing: Albinism Test

₹28,665

ADAR Gene Dyschromatosis Symmetrica Hereditaria NGS Genetic Test

₹20,000

COL7A1 Gene Epidermolysis bullosa dystrophica NGS Genetic Test

₹20,000

KRT14 Gene Epidermolysis bullosa simplex, Dowling-Meara type NGS Genetic Test

₹20,000

LAMA3 Gene Epidermolysis bullosa, generalized atrophic benign NGS Genetic Test

₹20,000

ENPP1 Gene Cole disease NGS Genetic Test

₹20,000
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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.