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TMEM173 Gene Vasculopathy, infantile-onset, TMEM173/STING related NGS Genetic Test

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TMEM173 Gene Vasculopathy, infantile-onset, TMEM173/STING related NGS Genetic Test

Short Name: TMEM173 Gene Vasculopathy NGS Test

Also known as: SAVI, STING-associated vasculopathy with onset in infancy

TMEM173 Gene Vasculopathy, infantile-onset, TMEM173/STING related 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 TestInfants🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To detect pathogenic mutations in the TMEM173 gene for the diagnosis of STING-associated vasculopathy with onset in infancy (SAVI), enabling early intervention and management.

Test Code
5164
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 the patient and a genetic counseling session to draw a pedigree chart of family members affected with TMEM173 Gene Vasculopathy.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture or use of FTA card for one drop of blood.

Step 3

Report Delivery

Sample is processed for NGS analysis, and reports are generated within 3 to 4 weeks.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Genetic counseling and informed consent are required. Provide clinical history and family pedigree.
2
During the Test:Sample collection (blood or DNA) and processing for NGS analysis.
3
After the Test:Report generation and consultation with a geneticist or referring physician.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the TMEM173 gene for the diagnosis of STING-associated vasculopathy with onset in infancy (SAVI), enabling early intervention and management.

How to Prepare

  • Provide detailed clinical history of the patient.
  • Undergo genetic counseling for pedigree analysis.
  • Ensure sample is collected in appropriate container (blood or FTA card).

Doctor's Notes

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

"Early genetic testing for TMEM173 mutations is crucial for timely diagnosis and management of SAVI in infants."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture
Sample Rejection Criteria:
  • Hemolyzed or insufficient sample
  • Improperly labeled sample

Understanding Your Results

Results indicate the presence or absence of pathogenic mutations in the TMEM173 gene, which is associated with STING-associated vasculopathy with onset in infancy (SAVI).
Positive Result: Pathogenic mutation detected in TMEM173 gene, consistent with SAVI diagnosis.
Negative Result: No pathogenic mutation detected; clinical correlation is recommended as symptoms may be due to other causes.
Variant of Uncertain Significance (VUS): Mutation detected but clinical significance is unknown; further testing or follow-up may be needed.
⚠️ When to Consult a Doctor:

If symptoms such as fever, skin rash, or joint pain persist or worsen after testing, or if genetic counseling is needed for family planning.

Limitations

  • ⚠Test only detects mutations in the TMEM173 gene; other genetic or non-genetic causes of vasculopathy are not covered.
  • ⚠Results require clinical correlation for diagnosis.

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection.

Interfering Factors

  • ●Poor sample quality
  • ●Contaminated DNA sample

Frequently Asked Questions

What is TMEM173 Gene Vasculopathy?
TMEM173 Gene Vasculopathy, also known as SAVI, is a rare genetic disorder caused by mutations in the TMEM173 gene, leading to blood vessel inflammation in infants.
What are the symptoms of TMEM173 Gene Vasculopathy?
Common symptoms include fever, joint pain, skin rash, blood vessel inflammation, ulcers on skin or mouth, and swollen lymph nodes, appearing in early infancy.
How is TMEM173 Gene Vasculopathy diagnosed?
Diagnosis involves clinical evaluation, blood tests, imaging scans, skin biopsy, and genetic testing such as NGS to detect TMEM173 gene mutations.
What is the cost of the NGS Genetic Test for TMEM173 Gene Vasculopathy?
The test costs INR 20000 at DNA Labs India, with free home sample collection available across India.
What sample is required for the test?
The test requires a blood sample, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the TMEM173 gene, which is consistent with a diagnosis of SAVI.
Can this test be done at home?
Yes, DNA Labs India offers free home sample collection for this test in many cities across India.
Is genetic counseling recommended before testing?
Yes, genetic counseling is recommended to understand the test implications and draw a family pedigree chart.
What are the risks of the test?
The test involves minimal risks from blood draw, such as bruising or infection, but is generally safe.
How can I book the test?
You can book the test online through DNA Labs India's website or contact them via phone or WhatsApp for assistance.
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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