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ALG8 Gene Glycosylation disorder type 1H NGS Genetic Test

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ALG8 Gene Glycosylation disorder type 1H NGS Genetic Test

ALG8 Gene Glycosylation disorder type 1H 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.

Genetic TestAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To detect pathogenic mutations in the ALG8 gene responsible for glycosylation disorder type 1H, aiding in diagnosis, family risk assessment, and management planning.

Test Code
4685
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

Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with glycosylation disorder type 1H.

Method: Blood sample or DNA extraction

Step 2

Laboratory Analysis

Your sample is analyzed using NGS Technology in our laboratory.

Step 3

Report Delivery

A certified pathologist reviews and signs your report. You receive it as a secure PDF via email and WhatsApp.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and clinical history assessment are required before testing.
2
During the Test:Sample collection via blood draw or cheek swab for DNA extraction.
3
After the Test:Results are available in 3 to 4 weeks; follow-up with a healthcare professional for interpretation.

About This Test

Who Should Get This Test

To detect pathogenic mutations in the ALG8 gene responsible for glycosylation disorder type 1H, aiding in diagnosis, family risk assessment, and management planning.

How to Prepare

  • Provide blood sample or DNA extraction as per sample type.
  • Ensure proper labeling and handling of samples.

Doctor's Notes

Reviewed by — MBBS, MD (Pathology) · Reg. No. 21521

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodBlood sample or DNA extraction

Understanding Your Results

Results indicate the presence or absence of pathogenic variants in the ALG8 gene. A positive result confirms diagnosis, while a negative result may require further testing if clinical suspicion remains.
📊

Positive

Pathogenic variant detected in ALG8 gene, confirming glycosylation disorder type 1H. Genetic counseling recommended.

📊

Negative

No pathogenic variants detected. Clinical correlation and additional testing may be considered if symptoms persist.

⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, or liver problems are present, or if there is a family history of glycosylation disorders.

Frequently Asked Questions

What is ALG8 gene glycosylation disorder type 1H?
It is a rare genetic disorder affecting glycosylation, leading to symptoms like developmental delays and seizures due to mutations in the ALG8 gene.
What are the common symptoms of this disorder?
Symptoms include developmental delays, seizures, liver problems, abnormal eye movements, coordination difficulties, low muscle tone, and intellectual disability.
How is ALG8 gene glycosylation disorder type 1H diagnosed?
Diagnosis is through genetic testing, specifically the NGS Genetic Test, which detects mutations in the ALG8 gene from blood or DNA samples.
What is the cost of the NGS Genetic Test in India?
The test costs approximately INR 20,000, with free home sample collection available across India.
Is home sample collection available for this test?
Yes, free home sample collection is offered for online bookings in numerous cities across India.
How long does it take to get the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Who should consider getting this genetic test?
Individuals with symptoms of the disorder or family members at risk of carrying the mutation should consider testing.
What sample types are accepted for the test?
Blood, extracted DNA, or one drop of blood on an FTA card are accepted sample types.
Is fasting required before the test?
No, fasting is not required for this genetic test.
What does a positive test result mean?
A positive result confirms the presence of a pathogenic variant in the ALG8 gene, indicating glycosylation disorder type 1H.
Can this test be used for family planning purposes?
Yes, testing can help identify carriers and assess risk for passing the disorder to children, with genetic counseling recommended.
Is the test covered by insurance or government schemes?
Coverage varies; it is not typically covered by schemes like PMJAY or CGHS, but check with private insurers for details.
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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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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