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TTC37 Gene Trichohepatoenteric syndrome type 1 NGS Genetic Test

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TTC37 Gene Trichohepatoenteric syndrome type 1 NGS Genetic Test

Short Name: THES1 NGS Genetic Test

Also known as: Trichohepatoenteric syndrome type 1, THES1

TTC37 Gene Trichohepatoenteric syndrome type 1 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. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To diagnose Trichohepatoenteric syndrome type 1 by identifying pathogenic mutations in the TTC37 gene using NGS technology.

Test Code
5154
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
NGS Technology
Step 1

Sample Collection

Clinical history of patient and genetic counseling session to draw a pedigree chart of family members affected with THES1.

Method: Blood draw or DNA extraction

Step 2

Laboratory Analysis

Blood sample or DNA extraction performed by a trained professional.

Step 3

Report Delivery

Sample is sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment to determine the need for testing.
2
During the Test:DNA extraction and NGS sequencing to analyze the TTC37 gene.
3
After the Test:Report generation and consultation with a healthcare provider for interpretation.

About This Test

Who Should Get This Test

To diagnose Trichohepatoenteric syndrome type 1 by identifying pathogenic mutations in the TTC37 gene using NGS technology.

How to Prepare

  • Blood sample collected in EDTA tube or one drop on FTA card.
  • Ensure proper labeling and handling to avoid contamination.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood draw or DNA extraction

Understanding Your Results

Results indicate the presence or absence of mutations in the TTC37 gene associated with Trichohepatoenteric syndrome type 1.
Positive result: Pathogenic mutation detected, confirming diagnosis of THES1.
Negative result: No pathogenic variants found, but clinical correlation is advised if symptoms persist.
Variant of uncertain significance: Further testing or family studies may be needed for clarification.
⚠️ When to Consult a Doctor:

If symptoms of THES1 such as chronic diarrhea, hair abnormalities, or liver disease are present, or if there is a family history of the disorder.

Limitations

  • ⚠Not all individuals with THES1 may have detectable mutations in the TTC37 gene with current genetic testing methods.
  • ⚠Genetic testing may not identify all types of mutations, such as large deletions or duplications.

Risks & Considerations

  • ●Minimal risks associated with blood draw, such as bruising, pain, or rare infection.

Frequently Asked Questions

What is Trichohepatoenteric syndrome type 1 (THES1)?
THES1 is a rare autosomal recessive disorder caused by mutations in the TTC37 gene, affecting multiple organ systems with symptoms like chronic diarrhea, hair abnormalities, and liver disease.
What causes THES1?
THES1 is caused by mutations in the TTC37 gene, which provides instructions for a protein important for tissue development and function.
What are the symptoms of THES1?
Symptoms include chronic diarrhea, hair abnormalities (e.g., trichorrhexis nodosa), liver disease, growth retardation, and abnormalities of the small intestine, pancreas, or gallbladder.
How is THES1 diagnosed?
THES1 is diagnosed through genetic testing, specifically NGS technology, to identify mutations in the TTC37 gene from a blood or DNA sample.
What is the TTC37 gene?
The TTC37 gene provides instructions for making a protein essential for proper development and function of various tissues in the body.
What is NGS genetic testing?
NGS (Next-Generation Sequencing) is a technology that analyzes DNA to identify genetic mutations, offering high accuracy for diagnosing disorders like THES1.
How much does the TTC37 gene test cost?
The TTC37 Gene Trichohepatoenteric syndrome type 1 NGS Genetic Test costs INR 20000 at DNA Labs India.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What is the turnaround time for results?
Results are typically available within 3 to 4 weeks after sample collection.
Can THES1 be detected in all individuals?
Not all individuals with THES1 may have mutations in the TTC37 gene detectable by current genetic testing methods.
What should I do if I have a family history of THES1?
Consider genetic testing and counseling to assess risk and guide management, especially if symptoms are present.
Are there any risks associated with the test?
The test involves minimal risks, such as those from a blood draw, including bruising or rare infection.
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.

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✓ 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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