DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test
Short Name: DSE Gene EDS MC2 NGS Test
Also known as: EDS MC2, DSE-related EDS, Musculocontractural Ehlers-Danlos Syndrome Type 2
DSE Gene Ehlers-Danlos syndrome, musculocontractural 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.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to detect mutations in the DSE gene using Next-Generation Sequencing (NGS) technology, aiding in the diagnosis of Ehlers-Danlos Syndrome Musculocontractural Type 2 (MC2). It helps confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
- Test Code
- 4925
- 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
Sample Collection
Ensure patient provides clinical history and undergoes genetic counseling. No specific preparation required, but avoid eating or drinking for 30 minutes before blood collection if using FTA card.
Method: Venipuncture or finger-prick
Laboratory Analysis
Blood sample collected via venipuncture or finger-prick. For FTA card, one drop of blood is applied. Collection is quick and minimally invasive.
Report Delivery
Apply pressure to the collection site to prevent bleeding. Store sample as per instructions and transport to the lab promptly.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to detect mutations in the DSE gene using Next-Generation Sequencing (NGS) technology, aiding in the diagnosis of Ehlers-Danlos Syndrome Musculocontractural Type 2 (MC2). It helps confirm clinical suspicion, guide treatment decisions, and facilitate genetic counseling for affected individuals and their families.
How to Prepare
- Use sterile equipment for sample collection
- Label sample correctly with patient details
- For blood, collect in EDTA tube and mix gently
- For FTA card, air-dry the blood spot before packaging
- Maintain sample at ambient temperature during transport
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Genetic testing is crucial for accurate diagnosis and management of Ehlers-Danlos Syndrome, enabling personalized care and genetic counseling for affected families."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or missing patient information
- Contaminated or degraded samples
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of EDS MC2. Genetic counseling and management planning recommended.
No pathogenic variant detected
No mutations found in the DSE gene. Clinical correlation and additional testing may be needed if symptoms persist.
Variant of uncertain significance
Genetic variant identified but clinical significance unknown. Follow-up testing and family studies advised.
Consult a healthcare professional if you experience symptoms such as joint hypermobility, contractures, abnormal scarring, or have a family history of EDS. After receiving test results, seek genetic counseling for interpretation and management.
Limitations
- ⚠May not detect all possible mutations in the DSE gene
- ⚠Requires genetic counseling for interpretation
- ⚠Results should be correlated with clinical findings
- ⚠Does not rule out other genetic disorders
Risks & Considerations
- ●Minimal risk associated with blood collection, such as bruising or discomfort
- ●Psychological impact of genetic results; counseling provided
- ●No significant physical risks from the test itself
Interfering Factors
- ●Sample contamination during collection or transport
- ●Degraded DNA due to improper storage
- ●Hemolyzed blood samples
Compare With Similar Tests
| Test | DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test | COL5A1 Gene EDS NGS Test | COL5A2 Gene EDS NGS Test | TNXB Gene EDS NGS Test | Comprehensive EDS Panel |
|---|---|---|---|---|---|
| Comparison | DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test |
Frequently Asked Questions
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Is home collection available?
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