CEP152 Gene Seckel syndrome type 5 NGS Genetic Test
Short Name: CEP152 NGS
Also known as: Seckel Syndrome 5 Genetic Test, CEP152 Mutation Analysis
CEP152 Gene Seckel syndrome type 5 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 Results are typically available in 3 to 4 weeks after sample receipt.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the CEP152 gene that cause Seckel Syndrome Type 5. It is used to confirm a clinical diagnosis, differentiate from other microcephalic disorders, and provide information for genetic counseling and family planning.
- Test Code
- 5919
- 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
- Results are typically available in 3 to 4 weeks after sample receipt.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No special preparation is required. However, a genetic counseling session is recommended before the test to discuss implications and obtain informed consent.
Method: Venipuncture or Fingerstick
Laboratory Analysis
Blood sample is collected by venipuncture or a fingerstick for FTA card. The procedure is quick and minimally invasive.
Report Delivery
No specific aftercare is needed. The sample is sent to the laboratory for analysis.
Timeline: Results are typically available in 3 to 4 weeks after sample receipt.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the CEP152 gene that cause Seckel Syndrome Type 5. It is used to confirm a clinical diagnosis, differentiate from other microcephalic disorders, and provide information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA tube, mix gently.
- For FTA card: Apply one drop of blood onto the card, allow to dry.
- Label the sample with patient ID and date.
- Transport at ambient temperature.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Genetic testing for Seckel syndrome type 5 is crucial for accurate diagnosis and family counseling. Early identification can guide management and surveillance."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood sample
- Insufficient sample volume
- Improper labeling
- Sample received after prolonged delay without proper storage
Understanding Your Results
Positive
Pathogenic variant detected in CEP152 gene. Confirms diagnosis of Seckel Syndrome Type 5.
Negative
No pathogenic variant detected. Clinical diagnosis may still be considered; consider testing other genes.
Variant of Uncertain Significance (VUS)
A variant was found but its clinical significance is unknown. Further family studies may be needed.
Consult a clinical geneticist or pediatrician if your child shows symptoms like microcephaly, growth delay, or dysmorphic features. Genetic counseling is recommended before and after testing.
Limitations
- ⚠This test detects mutations in the CEP152 gene only; other genes may cause similar phenotypes.
- ⚠Variant of uncertain significance (VUS) may be reported; further analysis may be needed.
- ⚠NGS may not detect large deletions/duplications; additional testing may be required.
- ⚠Genetic testing cannot predict severity or progression of the disease.
Risks & Considerations
- ●Minimal risk of bruising or infection at blood draw site
- ●Psychological impact of genetic results
- ●Potential for incidental findings
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Insufficient sample quantity
- ●Recent blood transfusion (within 2 weeks) may dilute DNA
- ●Maternal cell contamination in prenatal samples
Compare With Similar Tests
| Test | CEP152 Gene Seckel syndrome type 5 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | CEP152 Gene Seckel syndrome type 5 NGS Genetic Test |
Frequently Asked Questions
What is Seckel Syndrome Type 5?
How is the CEP152 gene test performed?
What is the cost of the CEP152 NGS test in India?
Is fasting required before the test?
How long does it take to get results?
Can this test be done on children?
What sample types are accepted?
Is home sample collection available?
What does a positive result mean?
Are there any risks associated with the test?
Can this test be used for prenatal diagnosis?
Does insurance cover this 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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