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SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic Test

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SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome NGS Genetic Test

Short Name: SOX18 HTLS NGS Test

Also known as: HTLS, SOX18-related disorder

SOX18 Gene Hypotrichosis-lymphedema-telangiectasia syndrome 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 SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To identify pathogenic mutations in the SOX18 gene for accurate diagnosis of Hypotrichosis-lymphedema-telangiectasia syndrome (HTLS), enabling appropriate clinical management and genetic counseling.

Test Code
4988
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 review and genetic counseling session recommended to draw a pedigree chart of family members.

Step 2

Laboratory Analysis

Standard blood draw procedure using sterile technique; no fasting required.

Step 3

Report Delivery

Sample is labeled and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, family history, and draw a pedigree chart.
2
During the Test:Blood sample collection via venipuncture or alternative methods as specified.
3
After the Test:Wait for results (3-4 weeks) and schedule a follow-up consultation for interpretation and management planning.

About This Test

Who Should Get This Test

To identify pathogenic mutations in the SOX18 gene for accurate diagnosis of Hypotrichosis-lymphedema-telangiectasia syndrome (HTLS), enabling appropriate clinical management and genetic counseling.

How to Prepare

  • Fasting is not required prior to sample collection
  • Use sterile collection tubes and follow aseptic techniques
  • For FTA card samples, ensure proper application of blood drop

Doctor's Notes

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

"Early genetic diagnosis of HTLS through SOX18 gene testing can guide symptom management, family planning, and genetic counseling for affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card

Sample Stability

Blood samples stable at ambient room temperature for up to 24 hours
Extracted DNA stable for longer periods when stored properly
Sample Rejection Criteria:
  • Hemolyzed or clotted samples
  • Insufficient sample volume
  • Improperly labeled or contaminated samples

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the SOX18 gene, which are associated with Hypotrichosis-lymphedema-telangiectasia syndrome.
Positive Result: Pathogenic variant detected, consistent with HTLS diagnosis. Clinical correlation and genetic counseling are advised.
Negative Result: No pathogenic variants detected. However, clinical symptoms may still warrant further evaluation or alternative diagnoses.
Variant of Uncertain Significance (VUS): Genetic variant identified but not conclusively linked to disease. Follow-up testing and family studies may be recommended.
⚠️ When to Consult a Doctor:

If symptoms such as sparse hair, lymphedema, or telangiectasia are present, or if there is a family history of HTLS, consult a geneticist or dermatologist for evaluation and testing.

Limitations

  • ⚠May not detect all types of genetic variants, such as large deletions or duplications
  • ⚠Requires genetic counseling for interpretation of results
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minimal risk from blood draw, such as bruising or infection
  • ●Potential psychological impact of genetic test results
  • ●Risk of uncertain results requiring further testing

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA quality
  • ●Hemolyzed blood samples

Frequently Asked Questions

What is Hypotrichosis-lymphedema-telangiectasia syndrome (HTLS)?
HTLS is a rare genetic disorder caused by mutations in the SOX18 gene, characterized by sparse hair, lymphedema (swelling due to lymph fluid buildup), and telangiectasia (small dilated blood vessels).
What causes HTLS?
HTLS is caused by mutations in the SOX18 gene, which provides instructions for a protein involved in the development of hair, skin, and the lymphatic system.
How is HTLS diagnosed?
Diagnosis is based on clinical features and genetic testing, such as NGS sequencing of the SOX18 gene to identify causative mutations.
What is the SOX18 gene?
The SOX18 gene encodes a transcription factor critical for the development of the lymphatic system, hair follicles, and blood vessels.
What is NGS technology?
Next-generation sequencing (NGS) is a high-throughput method that allows rapid and accurate sequencing of entire genes or genomes, ideal for detecting genetic mutations.
How accurate is the SOX18 Gene NGS Test?
NGS technology is highly accurate for detecting point mutations and small variants in the SOX18 gene, but may not detect all types of genetic alterations.
What are the symptoms of HTLS?
Symptoms include sparse or absent hair, chronic swelling in limbs (lymphedema), and visible small blood vessels on the skin (telangiectasia), often appearing in infancy.
Is there a cure for HTLS?
There is no cure for HTLS, but management focuses on symptom relief, such as compression therapy for lymphedema and dermatological care.
How is HTLS managed?
Management includes supportive care like lymphatic drainage, skin care, and regular monitoring. Genetic counseling is recommended for families.
What is the cost of the SOX18 Gene NGS Test?
The test costs INR 20,000 at DNA Labs India, which includes consultation fees and home sample collection.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
Is genetic counseling available for this test?
Yes, DNA Labs India offers genetic counseling sessions to discuss test implications, family history, and draw pedigree charts before testing.
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

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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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