DPM2 Gene Glycosylation disorder type 1U NGS Genetic Test
Short Name: DPM2 Glycosylation Disorder Type 1U Test
Also known as: DPM2 Gene Mutation Test, Congenital Disorder of Glycosylation Type 1U, CDG Type 1U Test
DPM2 Gene Glycosylation disorder type 1U 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 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 diagnose DPM2 Gene Glycosylation Disorder Type 1U through genetic analysis, enabling accurate clinical management, genetic counseling, and informed decision-making for affected individuals and their families.
- Test Code
- 2044
- 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
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation is required. Genetic counseling is recommended prior to testing.
Method: Venipuncture or finger-prick
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist using aseptic techniques. For FTA card, a finger-prick blood drop is collected.
Report Delivery
Apply pressure to the puncture site to stop bleeding. Keep the sample at room temperature for stability.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose DPM2 Gene Glycosylation Disorder Type 1U through genetic analysis, enabling accurate clinical management, genetic counseling, and informed decision-making for affected individuals and their families.
How to Prepare
- Ensure proper patient identification
- Use sterile collection equipment
- Label samples correctly
- Avoid hemolysis during blood draw
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for DPM2 mutations can aid in timely management and family planning for affected individuals."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Insufficient sample volume
- Hemolyzed or contaminated samples
- Improperly labeled samples
Understanding Your Results
Positive (Pathogenic variant detected)
Confirms diagnosis of DPM2 Gene Glycosylation Disorder Type 1U. Further management and counseling are recommended.
Negative (No variant detected)
No mutation identified in the DPM2 gene. Clinical correlation is necessary, as symptoms may be due to other causes.
Variant of uncertain significance (VUS)
Genetic change identified but clinical significance is unknown. Re-evaluation and family studies may be needed.
Consult a doctor if symptoms suggestive of glycosylation disorder are present, such as developmental delays, seizures, or multi-organ abnormalities. Genetic counseling is advised for family planning in affected families.
Limitations
- ⚠May not detect all types of genetic variations
- ⚠Requires genetic counseling for accurate interpretation
- ⚠Results should be correlated with clinical presentation
Risks & Considerations
- ●Minimal risks from blood draw, such as bruising or infection
- ●Psychological impact from genetic results
- ●Privacy concerns regarding genetic data
Interfering Factors
- ●Sample contamination
- ●DNA degradation
- ●Inadequate sample volume
Frequently Asked Questions
What is DPM2 Gene Glycosylation Disorder Type 1U?
What are the common symptoms of this disorder?
How is DPM2 Gene Glycosylation Disorder Type 1U diagnosed?
What does the NGS Genetic Test involve?
What is the cost of the DPM2 Gene NGS Genetic Test at DNA Labs India?
Is home sample collection available for this test?
How long does it take to get the test results?
Is this genetic test covered by insurance?
Who should consider getting this test?
What are the treatment options for DPM2 Gene Glycosylation Disorder Type 1U?
Can this disorder be prevented?
How accurate is the NGS test for DPM2 mutations?
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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.
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