ATRIP Gene Seckel syndrome NGS Genetic Test
Short Name: ATRIP Gene NGS
Also known as: ATRIP Gene Sequencing, Seckel Syndrome NGS Panel, ATRIP Mutation Analysis
ATRIP Gene Seckel syndrome 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 within 3 to 4 weeks after the sample reaches the laboratory.. 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 NGS genetic test is to detect mutations in the ATRIP gene that cause Seckel syndrome. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for genetic counseling and family planning. The test also helps in differentiating ATRIP-related Seckel syndrome from other similar conditions, guiding appropriate medical management and surveillance.
- Test Code
- 5918
- 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 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 genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture or Finger-prick
Laboratory Analysis
A blood sample is drawn from a vein in the arm, or a finger-prick blood spot is collected on an 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. Results are typically available in 3 to 4 weeks.
Timeline: Results 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 this NGS genetic test is to detect mutations in the ATRIP gene that cause Seckel syndrome. It aids in confirming a clinical diagnosis, identifying carriers, and providing information for genetic counseling and family planning. The test also helps in differentiating ATRIP-related Seckel syndrome from other similar conditions, guiding appropriate medical management and surveillance.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark.
- For FTA card: Apply one drop of blood onto the designated circle, allow to air dry.
- Label the sample with patient's name, date of birth, and collection date.
- Transport the sample at ambient temperature to the laboratory.
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic confirmation of ATRIP-related Seckel syndrome is vital for appropriate surveillance and management. This NGS test provides a definitive molecular diagnosis, enabling accurate genetic counseling and family planning."
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 without proper storage
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of ATRIP-related Seckel syndrome. Genetic counseling is recommended for the family.
Likely pathogenic variant detected
Highly suggestive of the condition; further confirmation may be needed through family studies.
Variant of uncertain significance (VUS)
Cannot be definitively classified; additional testing or family segregation analysis may be required.
No pathogenic variant detected
No mutation found in the ATRIP gene; however, clinical suspicion may warrant testing of other genes.
If you or your child exhibit symptoms such as severe growth delay, microcephaly, or intellectual disability, or if there is a family history of Seckel syndrome, consult a clinical geneticist or pediatrician for evaluation and possible genetic testing.
Limitations
- ⚠This test detects mutations only in the ATRIP gene; other genes associated with Seckel syndrome are not covered.
- ⚠Variant of uncertain significance (VUS) may require further family studies.
- ⚠Large deletions/duplications may not be detected by standard NGS; additional testing may be needed.
- ⚠Negative result does not completely rule out the condition if clinical suspicion is high.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS) requiring further testing
Interfering Factors
- ●Poor DNA quality or quantity
- ●Contamination during sample collection
- ●Presence of maternal cell contamination in prenatal samples
- ●Incomplete clinical information may affect interpretation
Compare With Similar Tests
| Test | ATRIP Gene Seckel syndrome NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted Seckel Syndrome Panel | Chromosomal Microarray (CMA) |
|---|---|---|---|---|
| Comparison | ATRIP Gene Seckel syndrome NGS Genetic Test |
Frequently Asked Questions
What is the cost of the ATRIP Gene Seckel syndrome NGS genetic test?
What sample is required for the test?
How long does it take to get the results?
Is fasting required before the test?
Is home sample collection available?
What is the accuracy of the NGS test?
Can this test detect all types of mutations in the ATRIP gene?
Who should consider this test?
Will the test provide information for genetic counseling?
Is the test covered by insurance?
What is the difference between this test and a Seckel syndrome panel?
How should I prepare for the test?
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