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DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic Test

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DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 NGS Genetic Test

Short Name: DNMT3B ICF1 NGS Genetic Test

Also known as: ICF Syndrome Type 1, Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1

DNMT3B Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 1 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 TestAll Ages🏠 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 Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1) by identifying pathogenic mutations in the DNMT3B gene using next-generation sequencing technology.

Test Code
5026
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 and family pedigree chart during genetic counseling session.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected via venipuncture by a trained phlebotomist.

Step 3

Report Delivery

Apply pressure to the puncture site with a cotton ball to prevent bruising.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical evaluation are recommended to assess the need for testing.
2
During the Test:Sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and consultation with a healthcare provider for result interpretation.

About This Test

Who Should Get This Test

To diagnose Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1) by identifying pathogenic mutations in the DNMT3B gene using next-generation sequencing technology.

How to Prepare

  • Ensure proper identification and prescription
  • Provide comprehensive clinical and family history
  • Genetic counseling session recommended prior to testing

Doctor's Notes

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

"Early diagnosis through NGS can guide management and genetic counseling for families affected by ICF1."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL of blood
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture

Sample Stability

Blood sample stable at 2-8°C for up to 48 hours
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted sample
  • Insufficient sample volume
  • Incorrect sample container or labeling

Understanding Your Results

Genetic test results should be interpreted by a qualified geneticist or healthcare provider in the context of clinical findings and family history.
Positive result: Pathogenic variant detected in DNMT3B gene, confirming ICF1 diagnosis
Negative result: No pathogenic variants detected; consider other genetic or immunological tests if symptoms persist
Variant of uncertain significance: Further testing, family studies, or functional assays may be needed for clarification
⚠️ When to Consult a Doctor:

Consult a geneticist or immunologist if symptoms of ICF1 are present, such as recurrent infections and facial anomalies, or if there is a known family history of the disorder.

Limitations

  • ⚠May not detect all types of mutations, including deep intronic variants
  • ⚠Results may include variants of uncertain significance requiring further evaluation
  • ⚠Requires genetic counseling for accurate interpretation and family planning

Risks & Considerations

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

Interfering Factors

  • ●DNA degradation
  • ●Sample contamination
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is the DNMT3B Gene ICF1 NGS Genetic Test?
It is a genetic test that uses next-generation sequencing to identify mutations in the DNMT3B gene, which cause Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 1 (ICF1).
What are the common symptoms of ICF1?
Symptoms include recurrent infections, facial anomalies (e.g., small head, flat nasal bridge), chromosomal instability, developmental delays, and intellectual disability.
How is ICF1 diagnosed?
ICF1 is diagnosed through genetic testing, specifically NGS, which can detect mutations in the DNMT3B gene that may not be found by other methods.
What is the cost of this test in India?
The cost is approximately INR 20,000, which may include sample collection and analysis, but additional fees could apply; contact the lab for details.
Is home sample collection available?
Yes, free home sample collection is offered for online bookings across many cities in India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the DNMT3B gene, confirming a diagnosis of ICF1 and guiding management and genetic counseling.
Can this test detect all mutations causing ICF1?
While NGS is comprehensive, it may not detect all types of mutations, such as deep intronic variants, and results may include variants of uncertain significance.
Is genetic counseling required before the test?
Yes, a genetic counseling session is recommended to draw a pedigree chart, discuss implications, and ensure informed consent.
What are the risks associated with this test?
Risks are minimal and related to blood draw, such as minor bruising or rare infection; the test itself has no direct health risks.
How should I prepare for the test?
Prepare by providing clinical history, undergoing genetic counseling, and ensuring proper identification; fasting is not typically required.
What if the test result is negative but symptoms persist?
A negative result does not rule out ICF1 entirely; consult a healthcare provider for further evaluation, which may include other genetic or immunological tests.
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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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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