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SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

SKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test

Short Name: THES2 NGS Genetic Test

Also known as: THES2, Trichohepatoenteric Syndrome Type 2, SKIV2L-related syndrome

SKIV2L Gene Trichohepatoenteric syndrome type 2 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 TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To diagnose Trichohepatoenteric Syndrome Type 2 by detecting mutations in the SKIV2L gene using NGS technology, aiding in clinical management and genetic counseling.

Test Code
5153
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

Consult with a healthcare provider for genetic counseling. No specific preparation is required, but inform about any medications or recent procedures.

Method: Blood draw or Saliva collection

Step 2

Laboratory Analysis

A blood sample will be drawn from a vein in the arm, or a saliva sample collected using a kit. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Resume normal activities unless advised otherwise.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling is recommended to understand the implications of testing and potential outcomes.
2
During the Test:Sample collection via blood draw or saliva; procedure takes about 15-30 minutes.
3
After the Test:Results are available in 3-4 weeks. Follow-up with a healthcare provider for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose Trichohepatoenteric Syndrome Type 2 by detecting mutations in the SKIV2L gene using NGS technology, aiding in clinical management and genetic counseling.

How to Prepare

  • Use sterile equipment for blood collection
  • For saliva, avoid eating or drinking 30 minutes prior
  • Label samples correctly with patient details

Doctor's Notes

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

"This test is crucial for early diagnosis of THES2, especially in families with a history of genetic disorders, to guide management and genetic counseling."

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 Saliva collection

Sample Stability

Blood samples stable for 48 hours at room temperature
Extracted DNA stable for longer periods if stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SKIV2L gene. A positive result confirms THES2, while a negative result may require further testing if symptoms persist.
📊

Positive for pathogenic variant

Confirms diagnosis of Trichohepatoenteric Syndrome Type 2. Genetic counseling and symptom management recommended.

📊

Negative for pathogenic variant

No mutations detected in the SKIV2L gene. Clinical correlation and additional tests may be needed if symptoms are present.

📊

Variant of uncertain significance

Further family studies or functional analysis may be required for clarification.

⚠️ When to Consult a Doctor:

If you experience symptoms such as hair abnormalities, liver issues, chronic diarrhea, or have a family history of THES2, consult a healthcare provider for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all possible genetic variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Results should be correlated with clinical symptoms

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Rare risk of infection
  • ●Psychological impact of genetic results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Recent blood transfusions

Compare With Similar Tests

TestSKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic TestWhole Exome SequencingSanger Sequencing for SKIV2LChromosomal Microarray
ComparisonSKIV2L Gene Trichohepatoenteric syndrome type 2 NGS Genetic Test

Frequently Asked Questions

What is the SKIV2L Gene THES2 NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to analyze the SKIV2L gene for mutations causing Trichohepatoenteric Syndrome Type 2.
Who should consider this test?
Individuals with symptoms like hair abnormalities, liver dysfunction, chronic diarrhea, or a family history of THES2.
How is the test performed?
A blood or saliva sample is collected and analyzed using NGS technology to detect genetic variants.
What is the cost of the test?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is fasting required for this test?
No, fasting is not required for the SKIV2L Gene THES2 NGS Genetic Test.
What do the results mean?
A positive result confirms THES2, while a negative result may indicate no mutations in the SKIV2L gene. Genetic counseling is recommended for interpretation.
Is the test painful?
The blood draw may cause minor discomfort, but it is generally quick and well-tolerated.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
What are the treatment options for THES2?
Treatment focuses on managing symptoms, such as dietary changes, medications, and in severe cases, liver transplant.
Is genetic counseling necessary before testing?
Yes, genetic counseling is recommended to understand the test implications, results, and family planning options.
How accurate is this test?
NGS technology provides high accuracy for detecting mutations, but results should be correlated with clinical findings.
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

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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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