ECM1 Gene Urbach-Wiethe disease NGS Genetic Test
Short Name: Urbach-Wiethe Disease NGS Test
Also known as: Lipoid Proteinosis
ECM1 Gene Urbach-Wiethe disease 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 Reports are available within 3 to 4 weeks via online portal, email, or WhatsApp.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of the ECM1 Gene Urbach-Wiethe Disease NGS Genetic Test is to accurately diagnose Urbach-Wiethe disease by detecting mutations in the ECM1 gene using Next Generation Sequencing technology. This aids in confirming the condition, differentiating it from other disorders, informing treatment strategies, and providing genetic counseling for affected individuals and their families.
- Test Code
- 2271
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- Reports are available within 3 to 4 weeks via online portal, email, or WhatsApp.
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
No specific preparation is required. Ensure clinical history and family pedigree chart are prepared, preferably after genetic counseling.
Method: Venipuncture for blood; spot collection for FTA card
Laboratory Analysis
A blood sample will be collected via venipuncture from a vein in the arm, or a drop of blood on an FTA card may be used. The process is quick and minimally invasive.
Report Delivery
Apply pressure to the puncture site to prevent bruising. The sample will be transported to the lab under controlled conditions for analysis.
Timeline: Reports are available within 3 to 4 weeks via online portal, email, or WhatsApp.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the ECM1 Gene Urbach-Wiethe Disease NGS Genetic Test is to accurately diagnose Urbach-Wiethe disease by detecting mutations in the ECM1 gene using Next Generation Sequencing technology. This aids in confirming the condition, differentiating it from other disorders, informing treatment strategies, and providing genetic counseling for affected individuals and their families.
How to Prepare
- Fast for not required, but stay hydrated
- Avoid strenuous activity before collection
- Bring identification and prescription
- Inform staff of any medications or bleeding disorders
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic diagnosis of Urbach-Wiethe disease through ECM1 gene testing is essential for accurate management and genetic counseling, especially for families with a history of the disorder."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Contaminated or improperly labeled samples
- Hemolyzed samples
- Samples older than stability period
Understanding Your Results
Mutation Detected
Positive for Urbach-Wiethe disease; confirms diagnosis and guides management.
No Mutation Detected
Negative for ECM1 gene mutations; consider other diagnoses or further genetic testing.
Variant of Uncertain Significance (VUS)
Genetic variant found but pathogenicity unknown; requires monitoring and possibly family studies.
Consult a geneticist or healthcare provider if symptoms such as skin thickening, hoarse voice, or seizures persist, or if there is a family history of Urbach-Wiethe disease, to discuss test results and management options.
Limitations
- ⚠May not detect all genetic variations, including deep intronic mutations
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Not a standalone diagnostic; clinical evaluation is essential
Risks & Considerations
- ●Minor bruising or pain at the blood draw site
- ●Rare risk of infection
- ●Psychological impact of genetic results, hence genetic counseling is recommended
Interfering Factors
- ●Hemolyzed or degraded blood samples
- ●Improper sample storage or handling
- ●Contamination during DNA extraction
- ●Recent blood transfusions may affect results
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Frequently Asked Questions
What is Urbach-Wiethe disease?
What causes Urbach-Wiethe disease?
How is Urbach-Wiethe disease diagnosed?
What is the ECM1 gene?
What is NGS Genetic Testing?
How accurate is the ECM1 Gene NGS Test?
What sample is required for the test?
How long does it take to get results?
Is the test covered by insurance?
Can the test be done at home?
What are the risks of the test?
How to prepare for the test?
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