ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test
Short Name: ZBTB24 NGS Test
Also known as: ICF2 Genetic Test, ZBTB24 Gene Sequencing, Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome Type 2 NGS Panel
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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of ICF2 syndrome in individuals presenting with recurrent infections, facial dysmorphism, and developmental delay. It also aids in carrier detection for at-risk family members and provides information for genetic counseling and family planning.
- Test Code
- 5796
- CPT Code
- 81407
- ICD Code
- D81.89
- 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 special preparation is required. However, a genetic counseling session is recommended prior to testing to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by a trained phlebotomist using standard venipuncture technique. For FTA card, a fingerstick blood drop is applied to the card.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for processing.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm a clinical diagnosis of ICF2 syndrome in individuals presenting with recurrent infections, facial dysmorphism, and developmental delay. It also aids in carrier detection for at-risk family members and provides information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA vacutainer, mix gently to prevent clotting.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient's name and date of birth.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"ICF2 is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improperly labeled sample
- Sample received after prolonged transit time without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ICF2 syndrome. Genetic counseling recommended for family members.
Likely pathogenic variant detected
Highly suggestive of ICF2; further confirmation may be needed.
Variant of uncertain significance (VUS)
Cannot determine clinical significance; additional testing or family studies may be required.
No pathogenic variant detected
Does not rule out ICF2; consider testing other genes or alternative diagnoses.
Consult a clinical geneticist or immunologist if the test result is positive or if you have concerns about ICF2 symptoms. Genetic counseling is advised for all patients undergoing this test.
Limitations
- ⚠This test detects mutations in the ZBTB24 gene only; other genes associated with ICF syndrome (e.g., DNMT3B, CDCA7, HELLS) are not analyzed.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be required.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Test does not assess functional impact of variants.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Recent blood transfusion (if using blood sample)
Compare With Similar Tests
| Test | ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test | ICF Syndrome Panel (Multiple Genes) | Whole Exome Sequencing (WES) |
|---|---|---|---|
| Comparison | ZBTB24 Gene Immunodeficiency-centromeric instability-facial anomalies syndrome type 2 NGS Genetic Test | This panel analyzes several genes associated with ICF syndrome, including ZBTB24, DNMT3B, CDCA7, and HELLS. It is more comprehensive but may be more expensive. | WES analyzes all coding regions of the genome, which can identify mutations in ZBTB24 and other genes. It is more extensive but has a higher cost and longer turnaround time. |
Frequently Asked Questions
What is the cost of the ZBTB24 gene NGS genetic test?
What sample is required for this test?
How long does it take to get the results?
Is fasting required before the test?
What is ICF2 syndrome?
Can this test be done on children?
Is home sample collection available?
What does the test detect?
Are there any risks associated with the test?
Will insurance cover this test?
What if the result is negative?
Do I need genetic counseling?
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