CENPJ Gene Seckel syndrome type 4 NGS Genetic Test
Short Name: CENPJ NGS Test
Also known as: Seckel Syndrome Type 4 Genetic Test, CENPJ Gene Mutation Analysis
CENPJ Gene Seckel syndrome type 4 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 Reports are typically available within 3 to 4 weeks after the sample reaches 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 the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic Test is to confirm or rule out a diagnosis of Seckel Syndrome Type 4 by identifying pathogenic mutations in the CENPJ gene. This test is indicated for individuals with clinical features such as severe growth retardation, microcephaly, and developmental delay. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families.
- Test Code
- 5922
- CPT Code
- 81407
- ICD Code
- Q87.1
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a clinical history and genetic counseling session is mandatory before the test. Please bring any previous medical records or genetic test results.
Method: Venipuncture or FTA card blood spot
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a few drops of blood will be placed on the card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. You can resume normal activities immediately. The sample will be transported to the laboratory for analysis.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the CENPJ Gene Seckel Syndrome Type 4 NGS Genetic Test is to confirm or rule out a diagnosis of Seckel Syndrome Type 4 by identifying pathogenic mutations in the CENPJ gene. This test is indicated for individuals with clinical features such as severe growth retardation, microcephaly, and developmental delay. It also aids in carrier detection, prenatal diagnosis, and genetic counseling for affected families.
How to Prepare
- Ensure the patient's identity is verified with a valid ID
- Use EDTA tube for blood collection; mix gently
- For FTA card, apply blood drops to the designated circles and air dry
- Label the sample with patient name, date, and unique ID
- Transport at ambient temperature within 24 hours
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Seckel Syndrome Type 4 is a rare autosomal recessive disorder. Genetic confirmation is essential for accurate prognosis and family planning. This NGS test provides comprehensive analysis of the CENPJ gene."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling or missing requisition form
- Sample received after prolonged transit without proper storage
Understanding Your Results
Positive for pathogenic variant
Confirms diagnosis of Seckel Syndrome Type 4. Genetic counseling recommended for family planning.
Negative for pathogenic variant
No mutation detected in CENPJ gene. Consider other genetic causes of microcephalic dwarfism.
Variant of uncertain significance (VUS)
A variant was found but its clinical significance is unclear. Additional testing of family members may be needed.
Consult a clinical geneticist or pediatrician if you or your child have symptoms such as severe growth retardation, microcephaly, or developmental delay. Genetic testing can provide a definitive diagnosis and guide management.
Limitations
- ⚠This test does not detect large deletions/duplications or deep intronic variants
- ⚠Mutations in other genes associated with Seckel Syndrome are not analyzed
- ⚠Variant of uncertain significance may require further family studies
- ⚠Test cannot determine carrier status in individuals with a single pathogenic variant without clinical correlation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for finding variants of uncertain significance
Interfering Factors
- ●Contamination of sample with foreign DNA
- ●Insufficient DNA quantity or quality
- ●Presence of maternal cell contamination in prenatal samples
- ●Rare genetic variants in primer binding regions (for Sanger confirmation)
Compare With Similar Tests
| Test | CENPJ Gene Seckel syndrome type 4 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | CENPJ Gene Seckel syndrome type 4 NGS Genetic Test | CMA detects copy number variations but does not identify single gene mutations. NGS is more suitable for detecting point mutations in CENPJ. | WES covers all coding regions of the genome, but is more expensive and may have longer turnaround time. Targeted CENPJ NGS is cost-effective for suspected Seckel Syndrome Type 4. | Sanger is used for confirmation of specific known mutations, but NGS is preferred for initial screening due to higher throughput. |
Frequently Asked Questions
What is the cost of the CENPJ Gene Seckel Syndrome Type 4 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 does the test detect?
Who should consider this test?
Is home sample collection available?
Will I receive genetic counseling?
What is the accuracy of this NGS test?
Can this test be used for prenatal diagnosis?
What if the result is negative?
Are there any risks associated with the test?
Related Tests
MSX2 Gene Craniosynostosis type 2 NGS Genetic Test
₹20,000EVC2 Gene Ellis-van Creveld syndrome NGS Genetic Test
₹20,000FGFR2 Gene Saethre-Chotzen syndrome NGS Genetic Test
₹20,000TSPYL1 Gene Sudden infant death with dysgenesis of the testes syndrome NGS Genetic Test
₹20,000ATRX Gene Alpha-thalassemia/mental retardation syndrome NGS Genetic Test
₹20,000PTH1R Gene Chondrodysplasia, Blomstrand type NGS Genetic Test
₹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.
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.