TJP1 Gene TJP1 deficiency NGS Genetic Test
Short Name: TJP1 Deficiency NGS Test
Also known as: Tight Junction Protein 1 Deficiency Test, TJP1 Gene Analysis, TJP1 Mutation Screening
TJP1 Gene TJP1 deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To identify mutations in the TJP1 gene for accurate diagnosis of TJP1 deficiency, enabling early intervention and personalized treatment planning.
- Test Code
- 2260
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 weeks from sample receipt
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Consult with a genetic counselor and provide detailed clinical history. No specific preparation is required, but avoid eating or drinking for at least 1 hour before blood draw if specified by the lab.
Method: Venipuncture or FTA card application
Laboratory Analysis
A trained phlebotomist will collect a blood sample via venipuncture or apply a drop of blood to an FTA card. Ensure proper identification and sterile technique.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Store the sample as instructed and transport to the lab promptly.
Timeline: 3 to 4 weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
To identify mutations in the TJP1 gene for accurate diagnosis of TJP1 deficiency, enabling early intervention and personalized treatment planning.
How to Prepare
- Verify patient identity
- Use sterile equipment and proper containers
- Label samples accurately
- Transport at recommended temperature
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing for TJP1 deficiency is crucial for early intervention and family planning counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Insufficient sample volume
- Improperly labeled or contaminated samples
- Expired containers
Understanding Your Results
Pathogenic mutation detected
Confirms diagnosis of TJP1 deficiency. Recommend genetic counseling and specialist consultation.
No pathogenic mutation detected
No evidence of TJP1 deficiency based on this test. Clinical evaluation may be needed if symptoms persist.
Variant of uncertain significance (VUS)
Unclear clinical significance. Further testing or family studies may be recommended.
If you experience symptoms like chronic diarrhea, malabsorption, developmental delays, or have a family history of TJP1 deficiency, consult a healthcare provider for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Variants of uncertain significance (VUS) may require further investigation
- ⚠Results should be interpreted in clinical context with genetic counseling
Risks & Considerations
- ●Minor bruising or discomfort at blood draw site
- ●Psychological impact of genetic results
- ●Risk of misinterpretation without professional guidance
Interfering Factors
- ●Poor sample quality
- ●DNA degradation
- ●Contamination during collection or processing
- ●Incorrect sample storage
Compare With Similar Tests
| Test | TJP1 Gene TJP1 deficiency NGS Genetic Test | Whole Exome Sequencing | Targeted Mutation Panel |
|---|---|---|---|
| Comparison | TJP1 Gene TJP1 deficiency NGS Genetic Test |
Frequently Asked Questions
What is TJP1 deficiency?
What are the common symptoms of TJP1 deficiency?
How is TJP1 deficiency diagnosed?
What is the NGS Genetic Test for TJP1 deficiency?
What is the cost of the TJP1 Gene test at DNA Labs India?
How long does it take to get results?
Is home sample collection available for this test?
What sample is required for the test?
Do I need to fast before the test?
Can the test detect all mutations in the TJP1 gene?
What should I do if I get a positive result?
Is genetic counseling necessary before and after the test?
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