ATR Gene Seckel syndrome type 1 NGS Genetic Test
Short Name: ATR Seckel Type 1 NGS
Also known as: ATR Gene Sequencing, Seckel Syndrome Type 1 Genetic Test, ATR Mutation Analysis
ATR Gene Seckel syndrome type 1 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 SHAILAJA RAGHUNATH MURDESHWAR
Consultant Physician · Reg: 8052
Last reviewed: September 7, 2026
Overview
The purpose of this test is to identify pathogenic mutations in the ATR gene that cause Seckel syndrome type 1. It is indicated for individuals with clinical features suggestive of Seckel syndrome, such as severe growth retardation, microcephaly, intellectual disability, and characteristic facial dysmorphism. The test aids in confirming the diagnosis, differentiating from other microcephalic dwarfism syndromes, and providing accurate genetic counseling for the family.
- Test Code
- 5921
- 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 will be collected by a trained phlebotomist. For FTA card, a simple finger-prick is sufficient.
Report Delivery
No specific aftercare is needed. The sample will be sent to the laboratory for analysis.
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 test is to identify pathogenic mutations in the ATR gene that cause Seckel syndrome type 1. It is indicated for individuals with clinical features suggestive of Seckel syndrome, such as severe growth retardation, microcephaly, intellectual disability, and characteristic facial dysmorphism. The test aids in confirming the diagnosis, differentiating from other microcephalic dwarfism syndromes, and providing accurate genetic counseling for the family.
How to Prepare
- For blood sample: Use EDTA tube, fill to the indicated mark, and mix gently.
- For FTA card: Apply one drop of blood onto the designated circle and 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 within 24 hours.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Seckel syndrome type 1 is a rare autosomal recessive disorder. Early genetic confirmation is crucial for management and family counseling."
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 variant detected
Confirms the diagnosis of Seckel syndrome type 1. 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)
The clinical significance is unknown. Additional testing of family members may help clarify.
No pathogenic variant detected
Does not rule out Seckel syndrome; other genetic causes may be considered.
If you or your child has symptoms suggestive of Seckel syndrome, such as severe growth delay, microcephaly, or characteristic facial features, consult a pediatrician or clinical geneticist for evaluation and possible genetic testing.
Limitations
- ⚠This test does not detect all types of mutations (e.g., large deletions, deep intronic variants, or regulatory region mutations)
- ⚠Variants of uncertain significance (VUS) may be reported; further family studies may be needed
- ⚠Negative result does not completely rule out Seckel syndrome if clinical suspicion is high; other genes may be involved
- ⚠Genetic counseling is recommended to interpret results in the context of the patient's clinical presentation
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving a genetic diagnosis
- ●Potential for uncertain results (VUS) that may require further testing
Interfering Factors
- ●Poor quality or degraded DNA sample
- ●Contamination during sample collection
- ●Incomplete clinical information may affect interpretation
- ●Presence of large deletions/duplications not detected by standard NGS (may require additional testing)
Compare With Similar Tests
| Test | ATR Gene Seckel syndrome type 1 NGS Genetic Test | Chromosomal Microarray (CMA) | Whole Exome Sequencing (WES) | Targeted ATR Gene Sequencing (Sanger) |
|---|---|---|---|---|
| Comparison | ATR Gene Seckel syndrome type 1 NGS Genetic Test |
Frequently Asked Questions
What is Seckel syndrome type 1?
How is the ATR gene Seckel syndrome type 1 NGS test performed?
What is the cost of the test in India?
Is fasting required before the test?
How long does it take to get results?
Can the test be done on a newborn?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
Is home sample collection available?
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₹20,000Reference Laboratory Services
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