ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test
Short Name: ZBTB16 NGS Test
Also known as: ZBTB16 Gene Sequencing, PLZF Gene Test, ZBTB16 Mutation Analysis
ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Results are available within 3 to 4 weeks from the date of sample receipt at the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic variants in the ZBTB16 gene that may be responsible for clinical features such as skeletal defects, genital hypoplasia, and intellectual disability. Early diagnosis enables timely medical intervention, appropriate surveillance, and informed family planning decisions.
- Test Code
- 5933
- CPT Code
- 81407
- ICD Code
- Q87.8
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Results are available within 3 to 4 weeks from the date of sample receipt at the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
A small blood sample (2-3 ml) will be collected by a trained phlebotomist. For FTA card, a drop of blood from a fingerstick will be applied to the card.
Report Delivery
No specific aftercare is required. The sample will be transported to the laboratory for analysis.
Timeline: Results are available within 3 to 4 weeks from the date of sample receipt at the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to identify pathogenic variants in the ZBTB16 gene that may be responsible for clinical features such as skeletal defects, genital hypoplasia, and intellectual disability. Early diagnosis enables timely medical intervention, appropriate surveillance, and informed family planning decisions.
How to Prepare
- Ensure the patient's identity is verified with a valid ID
- Use EDTA vacutainer for blood collection
- If using FTA card, allow the blood spot to dry completely before packaging
- Label the sample with patient name, date, and unique ID
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis of ZBTB16-related disorders is crucial for timely intervention and family counseling. This NGS test provides comprehensive analysis of the gene to guide clinical management."
Last medically reviewed: September 7, 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
Disease-causing variant; consistent with clinical diagnosis
Action: Confirm diagnosis, initiate management, and offer family testing
Likely Pathogenic
Very likely disease-causing; further evidence may be needed
Action: Consider as diagnostic, but additional family studies may be helpful
VUS
Insufficient evidence to determine pathogenicity
Action: Additional testing or segregation analysis may be recommended
Likely Benign
Probably not disease-causing
Action: No immediate action; consider other genetic causes
Benign
No disease association
Action: No action required
If you or your child have symptoms suggestive of ZBTB16-related disorders, or if you have a family history of such conditions, consult a clinical geneticist or pediatrician for evaluation and genetic testing.
Limitations
- ⚠This test does not detect large chromosomal rearrangements or copy number variations unless specifically requested
- ⚠Variants in non-coding regulatory regions may not be identified
- ⚠Results should be interpreted in the context of clinical findings and family history
- ⚠Genetic counseling is recommended for all patients undergoing this test
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of genetic test results
- ●Potential for incidental findings (unrelated genetic variants)
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mosaic variants below detection threshold
Compare With Similar Tests
| Test | ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test | Whole Exome Sequencing (WES) | Chromosomal Microarray (CMA) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | ZBTB16 Gene Skeletal defects, genital hypoplasia, and mental retardation NGS Genetic Test | WES analyzes all coding regions of the genome, whereas this test focuses specifically on the ZBTB16 gene. WES is more comprehensive but more expensive and may have longer turnaround time. | CMA detects copy number variations (deletions/duplications) across the genome, but does not detect single nucleotide variants. This NGS test is better for point mutations. | Sanger sequencing is used for targeted single variant analysis, but is not efficient for full gene sequencing. NGS is preferred for comprehensive analysis. |
Frequently Asked Questions
What is the ZBTB16 gene?
What conditions are associated with ZBTB16 mutations?
How is the ZBTB16 NGS test performed?
What is the cost of the ZBTB16 NGS test?
How long does it take to get results?
Do I need to fast before the test?
Will I receive raw data files?
Is genetic counseling included?
Can this test detect all types of mutations?
Is home sample collection available?
What should I do if my result is positive?
Are there any risks associated with the test?
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₹20,000Reference 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.
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