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TJP2 Gene Hypercholanemia NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

TJP2 Gene Hypercholanemia NGS Genetic Test

Short Name: TJP2 Hypercholanemia NGS Test

Also known as: TJP2 Gene Test, Hypercholanemia Genetic Test

TJP2 Gene Hypercholanemia 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 3 to 4 weeks. Free home collection in 300+ cities across India.

Next-Generation Sequencing (NGS)All Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the TJP2 gene that cause hypercholanemia, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and families.

Test Code
4703
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required, but clinical history and genetic counseling are advised.

Method: Venipuncture or FTA card collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or FTA card.

Step 3

Report Delivery

Sample sent to lab for analysis. Results in 3-4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review.
2
During the Test:Sample collection and processing.
3
After the Test:Result interpretation and follow-up counseling.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the TJP2 gene that cause hypercholanemia, enabling accurate diagnosis, personalized treatment, and genetic counseling for affected individuals and families.

How to Prepare

  • Ensure proper sample labeling
  • Use sterile collection tubes
  • Follow aseptic techniques

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early diagnosis through genetic testing can help in managing symptoms and providing genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeVaries
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or FTA card collection

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable at room temperature for extended periods
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Incorrect sample type

Understanding Your Results

Results indicate the presence or absence of mutations in the TJP2 gene associated with hypercholanemia.
📊

Pathogenic variant detected

Confirms diagnosis of hypercholanemia. Genetic counseling and treatment recommended.

📊

No pathogenic variant detected

Hypercholanemia unlikely due to TJP2 mutations. Consider other causes.

⚠️ When to Consult a Doctor:

If symptoms persist or if there is a family history of hypercholanemia, consult a geneticist or hepatologist.

Limitations

  • May not detect all possible mutations
  • Results require clinical correlation
  • Genetic counseling recommended

Risks & Considerations

  • Minimal risk from blood draw
  • Psychological impact of genetic results

Interfering Factors

  • Sample contamination
  • Degraded DNA
  • Incorrect sample collection

Compare With Similar Tests

TestTJP2 Gene Hypercholanemia NGS Genetic TestWhole Exome SequencingSanger Sequencing
ComparisonTJP2 Gene Hypercholanemia NGS Genetic Test

Frequently Asked Questions

What is hypercholanemia?
Hypercholanemia is a rare genetic disorder characterized by high levels of bile acids in the blood, often due to mutations in the TJP2 gene.
What causes hypercholanemia?
It is primarily caused by mutations in the TJP2 gene, which affects bile acid regulation in the liver.
What are the symptoms of hypercholanemia?
Symptoms include jaundice, itching, fatigue, abdominal pain, and potential liver damage.
How is hypercholanemia diagnosed?
Diagnosis involves blood tests, liver function tests, and genetic testing like the TJP2 NGS test.
What is the TJP2 gene?
The TJP2 gene encodes a protein that helps regulate bile acid flow in the liver.
What does the NGS genetic test involve?
It uses next-generation sequencing to analyze the entire TJP2 gene for mutations.
How accurate is this test?
NGS technology provides high accuracy for detecting genetic mutations, but results should be interpreted clinically.
What is the cost of the test?
The test costs INR 20,000, including counseling and support services.
Is home sample collection available?
Yes, free home sample collection is available for online bookings across India.
How long does it take to get results?
Results are typically available within 3 to 4 weeks.
What should I do if the test is positive?
Consult a genetic counselor or healthcare provider for management and family planning advice.
Can this test be used for prenatal diagnosis?
It may be used for prenatal testing in high-risk families, but genetic counseling is recommended.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference 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.

LIMS Integration

Your Data Privacy

Your medical data is protected under Indian law.

Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.

DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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