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B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test

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B4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test

Short Name: B4GALT1 NGS Test

Also known as: B4GALT1-CDG Genetic Test, CDG IId NGS Test, Beta-1,4-galactosyltransferase 1 gene analysis, Congenital Disorder of Glycosylation Type IId genetic testing

B4GALT1 Gene Glycosylation disorder type 2D 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 Reports are delivered online within 3 to 4 weeks once the sample reaches the laboratory.. Free home collection in 300+ cities across India.

NGS Genetic TestAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 3, 2026

Overview

The purpose of this NGS genetic test is to identify disease-causing variants in the B4GALT1 gene that may be responsible for glycosylation disorder type 2D. It can help confirm a clinical diagnosis, support genetic counselling, assess recurrence risk, and guide appropriate medical management.

Test Code
4117
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are delivered online within 3 to 4 weeks once the sample reaches the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. The patient should provide a valid referral if available, complete the genetic counselling session, and share a detailed clinical history with the family pedigree.

Method: Peripheral blood draw or FTA card blood spot collection

Step 2

Laboratory Analysis

A small blood sample will be collected by venipuncture, or one drop of blood may be applied on an FTA card. The procedure is quick and minimally invasive.

Step 3

Report Delivery

No special precautions are needed. The patient can resume normal activities immediately after sample collection.

Timeline: Reports are delivered online within 3 to 4 weeks once the sample reaches the laboratory.

Patient Instructions

1
Before the Test:No fasting is required. Please complete the pretest genetic counselling session and provide clinical history, family pedigree, and prior biochemical test results if available.
2
During the Test:A small amount of blood is collected in an EDTA tube, or one blood spot is placed on an FTA card. For extracted DNA samples, the DNA is submitted in a labelled storage vial.
3
After the Test:You can resume normal activities immediately. The laboratory will process the sample and share results online within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to identify disease-causing variants in the B4GALT1 gene that may be responsible for glycosylation disorder type 2D. It can help confirm a clinical diagnosis, support genetic counselling, assess recurrence risk, and guide appropriate medical management.

How to Prepare

  • Carry a valid doctor's prescription or referral if available
  • Complete the patient consent and clinical history form
  • For FTA card samples, apply one drop of blood to the marked circle and allow it to air dry
  • Do not expose the FTA card to direct sunlight, heat, or moisture
  • For extracted DNA samples, label the vial clearly with the patient's name and unique identifier

Doctor's Notes

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

"This test should be ordered when a congenital disorder of glycosylation is suspected. Results should be interpreted with biochemical data and clinical findings, and genetic counselling is recommended before and after testing, especially for family planning and recurrence risk assessment."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per DNA Labs India collection kit instructions
ContainerEDTA Vacutainer / FTA Card / DNA storage vial
Collection MethodPeripheral blood draw or FTA card blood spot collection

Sample Stability

Whole blood in EDTA should reach the laboratory within 3 to 4 days; keep at room temperature and avoid extreme heat or freezing
FTA card blood spots are stable at room temperature for several weeks
Extracted DNA should be stored at 2-8°C for short-term and -20°C or colder for long-term shipment
Sample Rejection Criteria:
  • Clotted or haemolysed blood sample
  • Insufficient sample quantity
  • Leaking or unlabelled sample container
  • Improper storage or transit conditions leading to DNA degradation
  • Sample received without consent or clinical history

Understanding Your Results

The genetic test report classifies identified variants according to standard international guidelines. A pathogenic or likely pathogenic variant in the B4GALT1 gene supports a molecular diagnosis of B4GALT1-CDG. Variant classification should always be reviewed in the context of clinical presentation.
📊

Confirmed disease-causing variant; consistent with B4GALT1-CDG if clinical features match

📊

Very likely disease-causing; family testing and clinical correlation may be helpful

📊

Not enough evidence to classify as pathogenic or benign; additional family or functional studies may be recommended

📊

Probably not disease-causing; clinical correlation is still required

📊

No disease association

⚠️ When to Consult a Doctor:

If a child or adult shows unexplained developmental delay, intellectual disability, seizures, abnormal muscle tone, abnormal eye movements, or multi-organ dysfunction, a clinical geneticist or neurologist should be consulted. Genetic counselling is recommended before and after testing.

Limitations

  • ⚠This test may not detect large gene rearrangements, deep intronic variants, mitochondrial mutations, or trinucleotide repeat expansions
  • ⚠A negative result does not exclude all forms of congenital disorders of glycosylation
  • ⚠Variants of uncertain significance may require additional segregation or functional studies
  • ⚠Molecular test results should be interpreted alongside biochemical testing such as transferrin isoform analysis

Risks & Considerations

  • ●Minimal pain or bruising at the blood collection site
  • ●Lightheadedness during or after blood draw
  • ●Very low risk of infection at the puncture site

Interfering Factors

  • ●Severe haemolysis or clotted blood samples may reduce DNA quality
  • ●Inadequate DNA quantity or quality
  • ●Bacterial contamination of extracted DNA
  • ●Sample mix-up or incorrect labelling
  • ●Incomplete clinical or family history may limit interpretation

Compare With Similar Tests

TestB4GALT1 Gene Glycosylation disorder type 2D NGS Genetic Test
ComparisonB4GALT1 Gene Glycosylation disorder type 2D NGS Genetic TestNGS can analyse the entire B4GALT1 gene in a single high-throughput assay, reducing time and cost. Sanger sequencing is often used to confirm a specific family variant or small targeted region.Targeted NGS focuses specifically on B4GALT1, giving a lower cost and easier interpretation. Whole exome sequencing evaluates many genes simultaneously and is useful when the clinical picture is broad or unsolved.

Frequently Asked Questions

What is B4GALT1 gene glycosylation disorder type 2D?
B4GALT1 gene glycosylation disorder type 2D is a rare inherited disorder caused by mutations in the B4GALT1 gene. It affects the production of complex sugars on proteins and cells, leading to symptoms such as developmental delay, intellectual disability, seizures, abnormal muscle tone, abnormal eye movements, and organ dysfunction.
What does this NGS genetic test detect?
This test detects mutations in the B4GALT1 gene using next-generation sequencing. It identifies single nucleotide variants and small insertions or deletions in the coding regions and splice sites of the gene.
Who should undergo this test?
Patients with clinical suspicion of glycosylation disorder type 2D, unexplained developmental delay, intellectual disability, seizures, abnormal muscle tone, abnormal eye movements, organ dysfunction, or a family history of the disorder may be considered for this test.
What sample is required for the B4GALT1 NGS test?
The acceptable sample types are blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required before the test?
No, fasting is not required for this genetic test.
How long will the reports take?
Reports are usually delivered within 3 to 4 weeks after the sample reaches the laboratory.
What is the cost of the B4GALT1 gene glycosylation disorder type 2D NGS test?
The test costs INR 20,000. This includes genetic counselling and free home sample collection for online bookings.
Is genetic counselling required?
Yes, pretest genetic counselling is included. A genetic counsellor draws the family pedigree and explains the implications of the test before sample collection.
How accurate is the NGS method?
NGS is highly accurate for detecting sequence variants in the targeted gene. However, not all mutation types can be detected, and results should be interpreted with clinical findings.
Can a normal result completely rule out the disorder?
A negative result reduces the likelihood of B4GALT1-CDG but does not completely exclude every rare type of glycosylation disorder. Clinical and biochemical correlation is essential.
What are the limitations of this test?
The test may not detect large deletions, deep intronic variants, mitochondrial mutations, or repeat expansions. Some variants may be classified as variants of uncertain significance, requiring further analysis.
How can I book this test at DNA Labs India?
You can book online through the DNA Labs India website. Free home sample collection is available across major cities in India for online bookings.
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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