ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test
Short Name: ZBTB24 Gene ICF Syndrome Type 2 NGS Test
Also known as: ICF Syndrome Type 2, ZBTB24-related immunodeficiency disorder
ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the ZBTB24 gene to confirm a diagnosis of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 (ICF Syndrome Type 2). This enables healthcare providers to guide treatment, monitor complications, and offer genetic counseling to affected individuals and their families.
- Test Code
- 5029
- 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)
Sample Collection
No specific preparation is required. Provide clinical history and undergo genetic counseling as recommended.
Method: Venipuncture
Laboratory Analysis
A blood sample will be collected via venipuncture by a trained phlebotomist. For FTA card, a drop of blood is applied.
Report Delivery
Apply pressure to the puncture site to prevent bleeding. Store the sample as instructed and transport to the laboratory promptly.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic mutations in the ZBTB24 gene to confirm a diagnosis of Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 (ICF Syndrome Type 2). This enables healthcare providers to guide treatment, monitor complications, and offer genetic counseling to affected individuals and their families.
How to Prepare
- Ensure proper identification and labeling of the sample
- Use sterile collection tubes and follow aseptic techniques
- For blood samples, collect in EDTA tubes and mix gently
- For FTA cards, allow blood to dry completely before packaging
- Maintain sample at ambient room temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"This genetic test is essential for confirming diagnosis of ICF syndrome type 2, enabling targeted management and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated or degraded samples
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of ICF syndrome type 2. Recommend genetic counseling, immunological management, and monitoring for associated complications.
Negative for pathogenic variant
No mutation detected in the ZBTB24 gene. Consider other genetic or non-genetic causes if symptoms persist. Further testing may be warranted.
Variant of uncertain significance (VUS)
A genetic variant was detected but its clinical significance is unknown. Recommend follow-up testing, family studies, and consultation with a geneticist.
Consult a healthcare provider if you or your child experience symptoms such as recurrent infections, developmental delays, or facial anomalies, or if there is a family history of ICF syndrome. After receiving test results, discuss them with a geneticist or specialist for appropriate management.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Results should be interpreted in conjunction with clinical findings and family history
- ⚠Does not rule out other genetic disorders with similar symptoms
- ⚠Turnaround time may vary based on sample quality and laboratory workload
Risks & Considerations
- ●Minimal risks associated with blood draw, such as slight pain, bruising, or infection at the puncture site
- ●Psychological impact of genetic testing results, which may require counseling support
Interfering Factors
- ●Sample contamination or degradation
- ●Improper sample handling or storage
- ●Low DNA yield or quality
- ●Presence of inhibitors in the sample
Compare With Similar Tests
| Test | ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test | Whole Exome Sequencing | Immunodeficiency Gene Panel |
|---|---|---|---|
| Comparison | ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test |
Frequently Asked Questions
What is ICF Syndrome Type 2?
What are the common symptoms of ICF Syndrome Type 2?
How is the ZBTB24 Gene Test performed?
What is the cost of the test?
Is home sample collection available?
How long does it take to get results?
What sample types are accepted?
Is fasting required before the test?
Who should consider this test?
What does a positive result mean?
Can this test detect all mutations?
Is genetic counseling provided with the test?
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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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