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PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test

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PMM2 Gene Glycosylation disorder type 1A NGS Genetic Test

Also known as: Congenital Disorder of Glycosylation Type Ia, PMM2-CDG, CDG-Ia

PMM2 Gene Glycosylation disorder type 1A 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.

Next Generation Sequencing (NGS)🏠 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

To diagnose PMM2 Gene Glycosylation Disorder Type 1A through genetic analysis, aiding in clinical management, genetic counseling, and family planning.

Test Code
2036
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)
Step 1

Sample Collection

Genetic counseling session to discuss family history and obtain informed consent. Provide clinical history of the patient.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample collection via venipuncture in an EDTA tube or use of FTA card for one drop of blood.

Step 3

Report Delivery

Apply pressure to the puncture site. Samples are sent to the laboratory for analysis.

Timeline: 3 to 4 weeks

Patient Instructions

1
Before the Test:Understand the test purpose, provide informed consent, and share detailed medical and family history.
2
During the Test:A blood sample is drawn from a vein in the arm. The procedure takes a few minutes.
3
After the Test:No specific aftercare is required. Results are typically available in 3-4 weeks.

About This Test

Who Should Get This Test

To diagnose PMM2 Gene Glycosylation Disorder Type 1A through genetic analysis, aiding in clinical management, genetic counseling, and family planning.

How to Prepare

  • Ensure proper labeling of samples.
  • Transport samples at ambient temperature.
  • For FTA cards, allow blood to dry before shipping.

Doctor's Notes

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

"Early diagnosis through NGS is crucial for managing PMM2-CDG, enabling timely interventions and family counseling."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture

Sample Stability

Blood in EDTA tube: stable for 7 days at 2-8°C.
FTA card: stable at room temperature for extended periods.
Sample Rejection Criteria:
  • Hemolyzed samples
  • Insufficient sample volume
  • Improperly labeled samples

Understanding Your Results

The results of the PMM2 Gene Glycosylation Disorder Type 1A NGS Genetic Test indicate whether pathogenic mutations are present in the PMM2 gene.
📊

Negative

No pathogenic variants detected in the PMM2 gene. Clinical correlation is recommended.

📊

Positive

Pathogenic variants detected, confirming diagnosis of PMM2-CDG. Genetic counseling and management planning are advised.

📊

Variant of Uncertain Significance (VUS)

A variant was found but its clinical significance is unknown. Further testing and family studies may be required.

⚠️ When to Consult a Doctor:

If the test results are positive or if there are symptoms suggestive of glycosylation disorder, consult a genetic specialist or metabolic disease expert.

Limitations

  • ⚠May not detect all types of mutations, such as large deletions or duplications.
  • ⚠Requires genetic counseling for interpretation.
  • ⚠Results may not predict disease severity accurately.

Risks & Considerations

  • ●Minimal risks from blood draw: bruising, slight pain at puncture site.
  • ●No significant risks from the genetic test itself.

Frequently Asked Questions

What is PMM2 Gene Glycosylation Disorder Type 1A?
It is a rare genetic disorder caused by mutations in the PMM2 gene, leading to impaired glycosylation and various symptoms affecting multiple systems.
What are the common symptoms of this disorder?
Symptoms include developmental delays, intellectual disability, abnormal facial features, seizures, weak muscle tone, recurrent infections, and bleeding disorders.
How is PMM2-CDG diagnosed?
Diagnosis is confirmed through genetic testing, specifically NGS Genetic Test that analyzes the PMM2 gene for mutations.
What is NGS Genetic Testing?
Next Generation Sequencing (NGS) is an advanced genetic testing technology that sequences DNA to identify mutations in genes like PMM2 with high accuracy.
What is the cost of the PMM2 Gene Test in India?
The cost is INR 20,000, which is relatively affordable compared to other genetic tests and includes home sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do if the test results are positive?
Consult a genetic specialist or metabolic disease expert for further management, genetic counseling, and support.
Is genetic counseling recommended before and after the test?
Yes, genetic counseling is advised to understand the test implications, results, and for family planning.
Can this test detect all possible mutations in the PMM2 gene?
While NGS is highly accurate, it may not detect all types of mutations, such as large structural variants. Comprehensive analysis is performed to cover common variants.
Is the test covered by insurance or government schemes?
Coverage depends on your insurance plan. It is generally not covered under government schemes like PMJAY or CGHS, but private insurance may cover it. Check with your provider.
How can I book the PMM2 Gene Test?
You can book the test online through DNA Labs India's website or by contacting them via phone or WhatsApp for assistance.
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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