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DPM3 Gene Glycosylation disorder type 1O NGS Genetic Test

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DPM3 Gene Glycosylation disorder type 1O NGS Genetic Test

Short Name: DPM3 Gene NGS Test

Also known as: Congenital Disorder of Glycosylation Type 1O, DPM3-CDG

DPM3 Gene Glycosylation disorder type 1O 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.

NGS Genetic Test🏠 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 detect mutations in the DPM3 gene to diagnose Glycosylation Disorder Type 1O, aiding in clinical management, family planning, and genetic counseling.

Test Code
2048
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
Step 1

Sample Collection

Genetic counseling is recommended before testing. Ensure clinical history and family pedigree are documented.

Method: Venipuncture or buccal swab

Step 2

Laboratory Analysis

Blood draw via venipuncture or buccal swab collection is performed by a trained phlebotomist.

Step 3

Report Delivery

The sample is labeled, stored at appropriate temperature, and sent to the laboratory for analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to discuss indications, benefits, and limitations. Provide clinical history and family pedigree.
2
During the Test:The sample collection takes a few minutes and is non-invasive. A blood draw or buccal swab is performed.
3
After the Test:Results are available in 3-4 weeks. Genetic counseling should follow to discuss findings and next steps.

About This Test

Who Should Get This Test

The purpose of this test is to detect mutations in the DPM3 gene to diagnose Glycosylation Disorder Type 1O, aiding in clinical management, family planning, and genetic counseling.

How to Prepare

  • Fasting is not required
  • For blood sample, use EDTA tube
  • Buccal swab should be collected as per protocol
  • Ensure proper sample labeling

Doctor's Notes

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

"This NGS test is vital for diagnosing DPM3-related glycosylation disorders early, enabling targeted management and genetic counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5-10 ml for blood sample
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or buccal swab

Sample Stability

Blood samples stable at room temperature for 24 hours
FTA cards stable for extended periods at ambient temperature
Extracted DNA stable at -20°C for long-term storage
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Improperly labeled samples
  • Contaminated buccal swabs

Understanding Your Results

Results from the DPM3 Gene NGS Test indicate the presence or absence of mutations in the DPM3 gene. Interpretation should be done in conjunction with clinical findings and genetic counseling.
📊

Positive (mutation detected)

Confirms diagnosis of DPM3 Gene Glycosylation Disorder Type 1O. Genetic counseling and management strategies should be initiated.

📊

Negative (no mutation detected)

No pathogenic variants identified in the DPM3 gene. Clinical correlation is needed; consider other genetic or metabolic causes.

📊

Variant of uncertain significance

Further testing or family studies may be required. Genetic counseling is recommended.

⚠️ When to Consult a Doctor:

Consult a doctor if symptoms such as developmental delay, seizures, or muscle weakness are present, or for genetic counseling after receiving test results.

Limitations

  • ⚠May not detect all possible mutations or structural variants
  • ⚠Requires genetic counseling for interpretation
  • ⚠Negative result does not exclude other genetic causes
  • ⚠Turnaround time of 3-4 weeks may delay diagnosis

Risks & Considerations

  • ●Minor bruising or discomfort at blood draw site
  • ●Risk of sample contamination or technical errors
  • ●Emotional impact of genetic results, requiring counseling

Interfering Factors

  • ●Sample contamination or degradation
  • ●Insufficient DNA quantity or quality
  • ●Hemolyzed blood samples
  • ●Recent blood transfusion may affect results

Compare With Similar Tests

TestDPM3 Gene Glycosylation disorder type 1O NGS Genetic Test
ComparisonDPM3 Gene Glycosylation disorder type 1O NGS Genetic Test

Frequently Asked Questions

What is DPM3 Gene Glycosylation Disorder Type 1O?
It is a rare genetic disorder caused by mutations in the DPM3 gene, affecting protein glycosylation and leading to symptoms like developmental delay and seizures.
What are the common symptoms of this disorder?
Symptoms include developmental delay, intellectual disability, seizures, muscle weakness, and other neurological or metabolic issues.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing (NGS) to analyze the DPM3 gene from a blood or buccal swab sample, identifying mutations accurately.
What is the cost of the DPM3 Gene NGS Test?
The test costs INR 20000, inclusive of home sample collection and report generation.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection across many cities in India for this test.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What is the accuracy of this genetic test?
NGS technology provides high accuracy in detecting mutations, but interpretation requires genetic counseling.
Who should consider getting this test?
Individuals with symptoms like developmental delay, seizures, or a family history of glycosylation disorders should consider testing.
What does a positive result mean?
A positive result indicates the presence of a mutation in the DPM3 gene, confirming the diagnosis and guiding management.
Are there any risks associated with the test?
Risks are minimal, such as bruising from blood draw, but emotional support may be needed for result interpretation.
How should I prepare for the test?
No special preparation is needed, but genetic counseling is recommended before testing. Provide clinical history.
What should I do after receiving the results?
Consult with a genetic counselor or doctor to understand the results, discuss treatment options, and consider family implications.
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.

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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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