MPDU1 Gene Glycosylation disorder type 1F NGS Genetic Test
Short Name: MPDU1 Gene NGS Test
Also known as: Congenital Disorder of Glycosylation Type 1F, CDG Type 1F, MPDU1-CDG
MPDU1 Gene Glycosylation disorder type 1F 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 Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
The purpose of the MPDU1 Gene Glycosylation Disorder Type 1F NGS Genetic Test is to identify mutations in the MPDU1 gene to confirm a diagnosis of glycosylation disorder type 1F, guide treatment decisions, facilitate genetic counseling, and assess risk for family members.
- Test Code
- 2040
- 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
Provide detailed clinical history of the patient, including symptoms and family history. A genetic counseling session is recommended to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card
Laboratory Analysis
Blood sample will be collected via venipuncture or using an FTA card for one drop of blood.
Report Delivery
Sample is processed for DNA extraction and NGS analysis. Genetic counseling may be scheduled to discuss results.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
The purpose of the MPDU1 Gene Glycosylation Disorder Type 1F NGS Genetic Test is to identify mutations in the MPDU1 gene to confirm a diagnosis of glycosylation disorder type 1F, guide treatment decisions, facilitate genetic counseling, and assess risk for family members.
How to Prepare
- Ensure patient identification is accurate
- Collect blood sample in appropriate tube or use FTA card
- Label samples correctly with patient details
- Transport samples at ambient room temperature to the lab
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for MPDU1 gene mutations is crucial for timely diagnosis, genetic counseling, and management of glycosylation disorder type 1F, which can significantly impact patient outcomes and family planning."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted blood samples
- Insufficient sample volume
- Incorrect labeling or documentation
Understanding Your Results
Positive: Pathogenic variant detected
Confirms diagnosis of glycosylation disorder type 1F. Genetic counseling and management planning are recommended.
Negative: No pathogenic variant detected
MPDU1 gene mutation not identified. Clinical symptoms may be due to other causes; further testing or consultation advised.
Variant of Uncertain Significance (VUS)
Genetic variant found but significance unclear. Repeat testing, family studies, or clinical correlation may be needed.
Consult a geneticist or physician if symptoms of glycosylation disorder are present, such as developmental delays, seizures, or facial abnormalities, or if family history suggests increased risk.
Limitations
- ⚠May not detect all types of genetic variants, such as large deletions or duplications
- ⚠Does not rule out other genetic or metabolic disorders
- ⚠Results require clinical correlation and genetic counseling
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or discomfort
- ●Psychological impact of genetic diagnosis on patient and family
- ●Potential implications for insurance or family planning
Interfering Factors
- ●Degraded or insufficient DNA quality
- ●Contamination during sample processing
Frequently Asked Questions
What is MPDU1 gene glycosylation disorder type 1F?
What are the common symptoms of this disorder?
How is the MPDU1 gene test performed?
What is the cost of the MPDU1 gene NGS genetic test in India?
Is home sample collection available for this test?
How long does it take to receive the test results?
What do the test results indicate?
Is genetic counseling required before the test?
What should I do if the test is positive?
Can this test detect all mutations in the MPDU1 gene?
Is the test covered by insurance or government schemes?
What files are provided with the test report?
Related Tests
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.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
Book Your Test
Enter your details and we'll connect you within 15 minutes.