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DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

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DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

Short Name: DPM1 Glycosylation Disorder Test

Also known as: CDG-IE, DPM1-CDG, Congenital Disorder of Glycosylation Type IE

DPM1 Gene Glycosylation disorder type 1E 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 from sample receipt. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of this test is to identify pathogenic mutations in the DPM1 gene using NGS technology for definitive diagnosis of glycosylation disorder type 1E, facilitating early intervention, symptom management, and genetic counseling for affected individuals and their families.

Test Code
2038
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from sample receipt
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Schedule a genetic counseling session to discuss clinical and family history, and provide informed consent. No specific preparation is required, but a pedigree chart of affected family members may be drawn.

Method: Venipuncture or Home Collection

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample via venipuncture from a vein in the arm, or a home collection can be arranged. The process is quick and minimally invasive.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bruising. Report any discomfort or signs of infection. Store samples as instructed if self-collected on FTA card.

Timeline: 3 to 4 weeks from sample receipt

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test implications, provide detailed medical and family history, and ensure informed consent is obtained.
2
During the Test:Sample collection is performed as described, typically taking a few minutes. No active patient involvement is needed beyond sample provision.
3
After the Test:Wait for the report delivery within 3 to 4 weeks. Schedule a follow-up with a healthcare provider to discuss results and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to identify pathogenic mutations in the DPM1 gene using NGS technology for definitive diagnosis of glycosylation disorder type 1E, facilitating early intervention, symptom management, and genetic counseling for affected individuals and their families.

How to Prepare

  • Provide complete clinical and family history
  • Ensure proper identification and labeling of samples
  • Avoid contamination during sample handling
  • For FTA card collection, follow provided instructions carefully

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis of DPM1 gene glycosylation disorder type 1E is crucial for managing symptoms like seizures and developmental delays, enabling personalized treatment and family planning."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 mL blood (if applicable)
ContainerEDTA tube or FTA Card
Collection MethodVenipuncture or Home Collection

Sample Stability

Blood: stable for 48 hours at room temperature (20-25°C)
Extracted DNA: stable for years if stored at -20°C
FTA Card: stable for several weeks at room temperature
Sample Rejection Criteria:
  • Hemolyzed, clotted, or insufficient sample volume
  • Incorrect sample container or labeling
  • Sample integrity compromised due to improper storage

Understanding Your Results

Test results indicate the presence or absence of mutations in the DPM1 gene. Positive results confirm the diagnosis of glycosylation disorder type 1E, while negative results may suggest other etiologies or require further testing.
Normal Result: No pathogenic variants detected in the DPM1 gene
Abnormal Result: Pathogenic or likely pathogenic variant identified, confirming diagnosis
Uncertain Result: Variant of uncertain significance (VUS) found, requiring further evaluation
Carrier Status: Heterozygous carrier detected, with implications for family counseling
⚠️ When to Consult a Doctor:

Consult a geneticist or specialist if experiencing symptoms such as developmental delays, seizures, or unexplained intellectual disability, or if there is a family history of glycosylation disorders. Follow up after test results for management and counseling.

Limitations

  • ⚠May not detect all genetic variants, including deep intronic mutations
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results should be correlated with clinical findings

Risks & Considerations

  • ●Minor bruising or pain at the blood draw site
  • ●Rare risk of infection or fainting
  • ●Psychological impact of test results, addressed through genetic counseling

Interfering Factors

  • ●Contaminated or degraded DNA sample
  • ●Improper sample storage or handling
  • ●Recent blood transfusion affecting DNA

Compare With Similar Tests

TestDPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
ComparisonDPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

Frequently Asked Questions

What is DPM1 gene glycosylation disorder type 1E?
It is a rare genetic disorder caused by mutations in the DPM1 gene, leading to abnormal glycosylation and symptoms such as developmental delays, seizures, and muscle weakness.
How is the DPM1 gene disorder diagnosed?
Diagnosis is made through genetic testing, specifically Next-Generation Sequencing (NGS) to detect mutations in the DPM1 gene.
What are the common symptoms of this disorder?
Symptoms include developmental delays, intellectual disability, seizures, muscle weakness, eye abnormalities like cataracts, and brain changes such as cerebellar atrophy.
Who should consider this genetic test?
Individuals with symptoms of glycosylation disorders, or those with a family history of the condition, should consider testing.
What is the cost of the DPM1 Gene Glycosylation Disorder Type 1E NGS Genetic Test?
The test costs INR 20,000 at DNA Labs India, with home sample collection available.
Is the test covered by insurance?
Yes, most insurance plans cover this test. It is recommended to verify with your insurance provider for specific details.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks from sample collection.
What samples are required for the test?
The test requires blood, 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.
What if the test result is positive?
A positive result confirms the diagnosis, and healthcare providers can recommend management strategies, including symptom treatment and genetic counseling.
Can this test detect carriers of the disorder?
Yes, the test can identify heterozygous carriers, which is important for family planning and counseling.
Are there any risks associated with the test?
The risks are minimal and similar to a standard blood draw, such as bruising or discomfort. Genetic counseling is provided to address any psychological concerns.
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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For Hospitals & Clinics

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.

LIMS Integration

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.

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