TTC7A Gene Intestinal atresia, multiple NGS Genetic Test
Short Name: TTC7A NGS Test
Also known as: TTC7A Gene Sequencing, Intestinal Atresia NGS Panel, TTC7A Mutation Analysis
TTC7A Gene Intestinal atresia, multiple 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 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 detect pathogenic variants in the TTC7A gene that are associated with multiple intestinal atresia. This helps in confirming the clinical diagnosis, enabling early intervention, and providing information for genetic counseling and family planning.
- Test Code
- 5803
- CPT Code
- 81407
- ICD Code
- Q41.9
- 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 from the date of sample receipt at 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 Fingerstick
Laboratory Analysis
Blood sample will be collected by a trained phlebotomist. For FTA card, a simple fingerstick is sufficient.
Report Delivery
No specific aftercare is required. The sample will be sent to the laboratory for analysis.
Timeline: Reports are typically 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 detect pathogenic variants in the TTC7A gene that are associated with multiple intestinal atresia. This helps in confirming the clinical diagnosis, enabling early intervention, and providing information for genetic counseling and family planning.
How to Prepare
- For blood sample: Use EDTA tube, fill to indicated mark, mix gently.
- 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 (15-30°C) to the laboratory.
Doctor's Notes
Reviewed by Dr SHAILAJA RAGHUNATH MURDESHWAR — MBBS, MD (General Medicine) · Reg. No. 8052
"Early genetic diagnosis of TTC7A mutations is critical for timely surgical intervention and management of intestinal atresia. This NGS test provides comprehensive coverage of the TTC7A gene, aiding in accurate diagnosis 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
Positive (Pathogenic variant detected)
Confirms the diagnosis of TTC7A-related intestinal atresia. Genetic counseling is recommended for the family.
Action: Discuss management options and recurrence risk.
Negative (No pathogenic variant detected)
No disease-causing variant was found in the TTC7A gene. Other genetic or non-genetic causes should be considered.
Action: Further evaluation may be needed.
Variant of Uncertain Significance (VUS)
A variant was found, but its clinical significance is unknown. Additional testing in family members may help clarify.
Action: Consider segregation analysis and functional studies.
If you or your child experience symptoms such as abdominal distension, persistent vomiting, or failure to pass stool, consult a pediatrician or pediatric gastroenterologist immediately. Genetic testing may be recommended based on clinical evaluation.
Limitations
- ⚠This test only analyzes the TTC7A gene; other genetic causes of intestinal atresia are not evaluated.
- ⚠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.
- ⚠Test does not assess non-genetic causes of intestinal atresia.
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●No significant medical risks associated with genetic testing
- ●Psychological impact of results on family members
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 | TTC7A Gene Intestinal atresia, multiple NGS Genetic Test | Whole Exome Sequencing (WES) | Targeted Gene Panel (Intestinal Atresia Panel) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | TTC7A Gene Intestinal atresia, multiple NGS Genetic Test | WES analyzes all coding regions of the genome, while this test focuses specifically on the TTC7A gene. WES may identify variants in other genes but is more expensive and time-consuming. | A panel may include multiple genes associated with intestinal atresia, whereas this test is single-gene. Panels may be more comprehensive but costlier. | Sanger sequencing is used for targeted variant confirmation but is not suitable for whole-gene screening. NGS is more efficient for full gene analysis. |
Frequently Asked Questions
What is the cost of the TTC7A gene NGS genetic test?
What sample is required for this test?
Is fasting required before the test?
How long does it take to get the results?
Will I receive raw data files?
Is home sample collection available?
What is the purpose of genetic counseling before the test?
Can this test detect all genetic causes of intestinal atresia?
What does a positive result mean?
What if the result is a variant of uncertain significance (VUS)?
Is this test covered by insurance?
How do I book this test?
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₹20,000Reference Laboratory Services
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