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ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test

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ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test

Short Name: ALG6 NGS Genetic Test

Also known as: ALG6-CDG, Congenital Disorder of Glycosylation type 1c, CDG type 1c

ALG6 Gene Glycosylation disorder type 1C NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 weeks after sample submission. 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

This test is ordered to confirm or exclude a diagnosis of ALG6 gene glycosylation disorder type 1C in individuals with clinical or biochemical features suggestive of congenital disorder of glycosylation.

Test Code
4109
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks after sample submission
Fasting Required
No
Method
Next Generation Sequencing (NGS), Sanger sequencing for variant confirmation
Step 1

Sample Collection

No fasting is required. The doctor may order additional biochemical tests such as serum transferrin isoelectric focusing. A genetic counselling session should be scheduled to discuss the purpose, inheritance and limitations of the test.

Method: Home sample collection or walk-in at collection centre

Step 2

Laboratory Analysis

A blood sample, a dried blood spot on an FTA card, or extracted DNA may be collected depending on the patient's condition and laboratory protocol. The collection is minimally invasive.

Step 3

Report Delivery

The sample is transported to the laboratory for NGS analysis. Reports are usually available within 3 to 4 weeks. Genetic counselling should be provided after receiving the report to explain the results and next steps.

Timeline: 3 to 4 weeks after sample submission

Patient Instructions

1
Before the Test:No fasting is required. Confirm with the ordering physician whether biochemical screening for congenital disorders of glycosylation has already been performed. A genetic counselling session is advised before testing.
2
During the Test:The sample will be collected at home or at a collection centre. The procedure is quick and usually involves a simple blood draw, FTA card spot, or submission of an extracted DNA sample.
3
After the Test:After collection, the sample is sent to the laboratory. The final report will be shared online and by email. The treating physician or clinical geneticist will explain the report and recommend the next steps.

About This Test

Who Should Get This Test

This test is ordered to confirm or exclude a diagnosis of ALG6 gene glycosylation disorder type 1C in individuals with clinical or biochemical features suggestive of congenital disorder of glycosylation.

How to Prepare

  • Please provide the clinical history and the completed genetic counselling referral form
  • If giving blood, collect in an EDTA vacutainer and label the tube properly
  • If using an FTA card, apply one or more blood spots as per the laboratory kit instructions and allow the card to dry completely
  • Extracted DNA should be stored and shipped in a sterile tube under appropriate conditions
  • A valid consent form is required before proceeding with genetic testing

Doctor's Notes

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

"Genetic confirmation is important because the clinical features of ALG6-CDG overlap with other congenital disorders of glycosylation. A definitive molecular diagnosis helps in counselling the family and planning multidisciplinary care."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory collection protocol
ContainerEDTA vacutainer / FTA card / sterile DNA vial
Collection MethodHome sample collection or walk-in at collection centre

Sample Stability

Whole blood / FTA card / Extracted DNA
Sample Rejection Criteria:
  • Clotted or hemolyzed blood sample
  • Unlabelled or mislabelled sample
  • Incomplete clinical history or missing consent
  • Leaking sample container or compromised FTA card
  • Inadequate DNA quantity or quality

Understanding Your Results

The result should be interpreted by a qualified clinical geneticist in the context of clinical symptoms, biochemical markers and family history. Detection of biallelic pathogenic variants in ALG6 confirms the diagnosis of ALG6-CDG.
📊

Biallelic pathogenic or likely pathogenic variants detected

Consistent with a diagnosis of ALG6 gene glycosylation disorder type 1C

📊

Single pathogenic variant detected

May indicate carrier status in an autosomal recessive condition; a second variant may not have been detected by the technique

📊

Variant of uncertain significance detected

Further family segregation studies and genotype-phenotype correlation are needed before diagnosis can be confirmed

📊

No pathogenic variant detected

Does not rule out ALG6-CDG; clinical and biochemical reassessment may be required

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, neurologist or paediatrician if the child has unexplained developmental delay, seizures, facial dysmorphism, gastrointestinal issues or features suggestive of a congenital disorder of glycosylation. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠This test is focused on the ALG6 gene only and does not evaluate other genes involved in congenital disorders of glycosylation
  • ⚠NGS may not detect all types of mutations, such as large deletions/duplications, repeat expansions or epigenetic changes
  • ⚠A variant of uncertain significance may require additional family studies
  • ⚠A negative result does not completely exclude ALG6-CDG if clinical and biochemical suspicion is strong; further review by a clinical geneticist is advised

Risks & Considerations

  • ●Mild pain or bruising at the venepuncture site
  • ●Dizziness or fainting during blood collection
  • ●No significant biological risks associated with FTA card sample collection

Interfering Factors

  • ●Contaminated or degraded DNA may affect test results
  • ●Very rare deep intronic variants or large structural rearrangements may not be detected by routine NGS
  • ●Maternal cell contamination in blood samples can complicate interpretation in some situations
  • ●A prior bone marrow transplant can affect molecular results in blood-derived DNA

Compare With Similar Tests

TestALG6 Gene Glycosylation disorder type 1C NGS Genetic Test
ComparisonALG6 Gene Glycosylation disorder type 1C NGS Genetic Test

Frequently Asked Questions

What is the ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic Test?
It is a genetic test that uses next-generation sequencing (NGS) to analyse the ALG6 gene and detect pathogenic variants associated with congenital disorder of glycosylation type 1c.
What is ALG6 gene glycosylation disorder type 1C?
It is a rare genetic disorder caused by mutations in the ALG6 gene, which affect the glycosylation process. Glycosylation is important for the normal function of many proteins in the body.
What are the common symptoms of ALG6-CDG?
Common symptoms include developmental delays, intellectual disability, seizures, muscle weakness, behavioural problems, facial dysmorphism, gastrointestinal issues, skeletal abnormalities and brain structural abnormalities.
How is ALG6 gene glycosylation disorder type 1C inherited?
ALG6-CDG is typically inherited in an autosomal recessive pattern. This means an affected person usually inherits one altered ALG6 gene from each parent.
What is the role of the ALG6 gene?
The ALG6 gene provides instructions for making an enzyme that participates in the glycosylation process, which adds sugar molecules to proteins and helps them function properly.
What samples can be used for this test?
The test can be performed on whole blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before the ALG6 NGS genetic test?
No, fasting is not required for this genetic test.
What is the cost of the ALG6 Gene Glycosylation Disorder Type 1C NGS Genetic Test in India?
The test costs approximately Rs 20,000 in India. The exact cost may vary depending on the testing facility and the specific services included.
How long does it take to get the test report?
The report is usually available within 3 to 4 weeks after the sample is received by the laboratory.
Who should request this genetic test?
The test is generally requested by a neurologist, clinical geneticist, paediatrician or treating physician when there is a clinical suspicion of ALG6 gene glycosylation disorder type 1C.
Is genetic counselling necessary before this test?
Yes, genetic counselling is recommended before testing to draw a pedigree chart, explain the inheritance pattern, and discuss the risks and benefits of genetic testing.
Does DNA Labs India provide home sample collection for this test?
Yes, free home sample collection is available for online bookings across many cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata and other major centres.
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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