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ALG3 Gene Glycosylation disorder type 1D NGS Genetic Test

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ALG3 Gene Glycosylation disorder type 1D NGS Genetic Test

Short Name: ALG3 CDG 1D Test

Also known as: Congenital Disorder of Glycosylation Type 1D, CDG 1D, ALG3-CDG

ALG3 Gene Glycosylation disorder type 1D 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 TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

The purpose of this test is to identify mutations in the ALG3 gene to diagnose Glycosylation Disorder Type 1D, enabling accurate clinical management and genetic counseling.

Test Code
2037
CPT Code
81479
ICD Code
E77.8
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 prior to testing. Provide a detailed clinical history and pedigree chart of affected family members.

Method: Venipuncture or Finger Prick

Step 2

Laboratory Analysis

Sample collected via venipuncture or finger prick onto an FTA card. Procedure is minimally invasive.

Step 3

Report Delivery

Apply pressure to the collection site to prevent bleeding. Store sample as per instructions for stability.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history review are advised before sample collection.
2
During the Test:Sample collection involves a simple blood draw or finger prick.
3
After the Test:Monitor the collection site for any discomfort and await results as per the timeline.

About This Test

Who Should Get This Test

The purpose of this test is to identify mutations in the ALG3 gene to diagnose Glycosylation Disorder Type 1D, enabling accurate clinical management and genetic counseling.

How to Prepare

  • Obtain clinical history of the patient
  • Conduct a genetic counseling session to draw a pedigree chart
  • Ensure proper labeling and handling of sample

Doctor's Notes

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

"Early genetic diagnosis can inform management strategies, family planning, and support for individuals with ALG3 Gene Glycosylation Disorder Type 1D."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume3-5 ml whole blood or equivalent
ContainerEDTA tube or FTA card
Collection MethodVenipuncture or Finger Prick

Sample Stability

Stable for 7 days at room temperature for FTA cards
Blood samples should be processed within 24 hours
Sample Rejection Criteria:
  • Sample contaminated or improperly stored
  • Insufficient sample volume or degraded DNA

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALG3 gene. Positive results confirm diagnosis, while negative results may require further investigation.
📊

Pathogenic variant detected

Confirms ALG3 Gene Glycosylation Disorder Type 1D. Clinical correlation and management recommended.

📊

No pathogenic variant detected

ALG3 gene mutations not identified. Consider other diagnostic tests if symptoms persist.

📊

Variant of uncertain significance

Further testing and family studies may be needed for clarity.

⚠️ When to Consult a Doctor:

Consult a genetic specialist or physician if symptoms such as developmental delay, seizures, or abnormal features are present, or if a family history of glycosylation disorders exists.

Limitations

  • May not detect all genetic variants or mosaic mutations
  • Results require clinical correlation and genetic counseling
  • Does not assess for other unrelated genetic conditions unless specified

Risks & Considerations

  • Minimal physical risk from blood collection
  • Potential psychological impact from results, requiring genetic counseling

Interfering Factors

  • Contaminated or degraded DNA sample
  • Inadequate sample volume or quality

Frequently Asked Questions

What is ALG3 Gene Glycosylation Disorder Type 1D?
It is a rare genetic disorder caused by mutations in the ALG3 gene, affecting glycosylation and leading to various symptoms like developmental delay and seizures.
What are the common symptoms of this disorder?
Symptoms include delayed growth, intellectual disability, seizures, abnormal facial features, eye abnormalities, and recurrent infections.
How is ALG3 Gene Glycosylation Disorder Type 1D diagnosed?
Diagnosis is primarily through genetic testing, such as NGS, to identify mutations in the ALG3 gene, often supplemented with clinical evaluation.
What is the cost of the NGS Genetic Test in India?
The cost is around INR 20,000 at DNA Labs India, with potential discounts for online bookings.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings across many cities in India.
What sample type is required for the test?
Blood, extracted DNA, or one drop of blood on an FTA card can be used.
How long does it take to get results?
Results are typically available within 3 to 4 weeks after sample collection.
What should I do before the test?
Genetic counseling is recommended, along with providing a clinical history and family pedigree chart.
Is fasting required for this test?
No, fasting is not required for this genetic test.
Can this test detect other genetic conditions?
NGS can analyze multiple genes, which may help identify related genetic conditions, but it is targeted for ALG3 mutations.
What are the limitations of this test?
Limitations include potential inability to detect all genetic variants, and results require clinical correlation.
When should I consult a doctor regarding this test?
Consult a doctor if you or a family member exhibit symptoms like developmental delay, seizures, or abnormal features suggestive of a glycosylation disorder.
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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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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