Skip to main content
DNA Labs India

DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test

DNA Labs India | ISO 9001:2015 Certified

DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test

Short Name: DPAGT1 NGS Test

Also known as: DPAGT1-CDG, Congenital Disorder of Glycosylation Type 1J, CDG1J

DPAGT1 Gene Glycosylation disorder type 1J NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood / Extracted DNA / One drop Blood on FTA Card samples. Results in 3 to 4 weeks after the sample reaches the laboratory. The report will be shared via email, WhatsApp, and online portal.. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SHAILAJA RAGHUNATH MURDESHWAR

Dr SHAILAJA RAGHUNATH MURDESHWAR

Consultant Physician · Reg: 8052

Last reviewed: September 3, 2026

Overview

The purpose of this test is to confirm a clinical diagnosis of congenital disorder of glycosylation type 1J (DPAGT1-CDG) by identifying pathogenic variants in the DPAGT1 gene. It also aids carrier detection, management planning, recurrence risk assessment, and genetic counselling for affected families.

Test Code
4111
Price
₹20,000
Sample Type
Blood / Extracted DNA / One drop Blood on FTA Card
Result Time
3 to 4 weeks after the sample reaches the laboratory. The report will be shared via email, WhatsApp, and online portal.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is necessary. The patient can drink water and take regular medications. Please bring any prior investigation reports, especially serum transferrin analysis or MRI brain. A referral from a physician is not mandatory, but a clinical history and family pedigree should be available. Pre-test genetic counselling is included in the test package and is strongly recommended.

Method: Venipuncture / Finger prick

Step 2

Laboratory Analysis

A trained phlebotomist will collect 3-5 ml of venous blood in an EDTA vacutainer. If using the FTA card, one drop of blood obtained from a finger prick is directly applied onto the designated spot and allowed to air-dry. If you are submitting an extracted DNA sample, ensure it is placed in a sterile, DNAase-free tube.

Step 3

Report Delivery

There are no specific precautions following blood collection. If you have given an FTA card sample, keep the card in a clean, dry envelope. The laboratory will process the sample once it is received. You can track the test status through the DNA Labs India portal or customer support.

Timeline: 3 to 4 weeks after the sample reaches the laboratory. The report will be shared via email, WhatsApp, and online portal.

Patient Instructions

1
Before the Test:Your doctor may order this test after a thorough neurological and metabolic evaluation. It is important to share the child’s birth and developmental history, family history, and any previous laboratory or imaging results.
2
During the Test:The test is a simple blood spot or venipuncture. For FTA card, only a tiny drop of blood is required. The entire procedure is quick and safe.
3
After the Test:After sample collection, the specimen will be transported to the genetics laboratory for DNA extraction and NGS sequencing. You will be informed when the report is ready.

About This Test

Who Should Get This Test

The purpose of this test is to confirm a clinical diagnosis of congenital disorder of glycosylation type 1J (DPAGT1-CDG) by identifying pathogenic variants in the DPAGT1 gene. It also aids carrier detection, management planning, recurrence risk assessment, and genetic counselling for affected families.

How to Prepare

  • Label the sample immediately after collection with the patient's name, date of birth, and date/time.
  • If blood is drawn in a vacutainer, mix gently by inverting 8-10 times to prevent clotting.
  • For FTA card, ensure the sample area is fully saturated and allowed to air dry for at least 30 minutes.
  • Do not refrigerate or freeze the FTA card.
  • If sending extracted DNA, include the provided barcode/QR code label.

Doctor's Notes

Reviewed by — MBBS, MD (General Medicine) · Reg. No. 8052

"As an obstetrician, I often see families concerned about inherited conditions. For couples with a child affected by a glycosylation disorder, precise genetic testing of the DPAGT1 gene is essential for recurrence risk counselling and planning prenatal diagnosis in future pregnancies. The NGS test from DNA Labs India offers an accurate molecular confirmation that supports informed reproductive decisions."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood / Extracted DNA / One drop Blood on FTA Card
Sample Volume3-5 ml of blood / 1 drop on FTA card / 1 μg extracted DNA
ContainerEDTA vacutainer / sterile DNAase-free tube / FTA card
Collection MethodVenipuncture / Finger prick

Sample Stability

Whole blood (EDTA): 24-48 hours at 15-25°C; do not freeze.
FTA card: stable for up to 6 months at room temperature if kept dry.
Extracted DNA: stable for 1 week at 2-8°C and long-term at -20°C.
Sample Rejection Criteria:
  • Sample in a heparin tube (heparin inhibits PCR).
  • Clotted or grossly hemolyzed blood.
  • Insufficient volume (<0.5 ml blood).
  • Unlabeled or improperly labeled samples.
  • Sample received in a leaking container or with excess heat exposure.

Understanding Your Results

The final report will be interpreted by a clinical geneticist. The result should be used in the context of the patient's clinical picture and family history. Genetic counselling is advised for all patients.
📊
📊
📊
📊
⚠️ When to Consult a Doctor:

Consult a pediatrician, neurologist, or clinical geneticist if the child has unexplained global developmental delay, intractable seizures, hypotonia, or multisystem involvement. A genetic consultation is essential to diagnose and manage rare disorders like DPAGT1-CDG.

Limitations

  • ⚠Detection is limited to variants in the coding regions and conserved splice sites of the DPAGT1 gene.
  • ⚠Large structural rearrangements, deep intronic variants, and regulatory element defects may not be identified by this NGS assay.
  • ⚠This analysis does not evaluate other genes known to cause congenital disorders of glycosylation; a negative result does not exclude a CDG diagnosis.
  • ⚠Mosaicism below the analytical sensitivity may be missed.

Risks & Considerations

  • ●This is a low-risk test. Venipuncture may cause a minor bruise, pain, or rarely, infection. FTA card collection is virtually painless.
  • ●Psychological and social risks may occur from genetic results; therefore pre/post-test counselling is offered.

Interfering Factors

  • ●Maternal cell contamination in prenatal or neonatal samples
  • ●Hemolyzed or clotted blood affecting DNA quality
  • ●Insufficient DNA quantity from FTA card or extracted DNA
  • ●High white blood cell count due to active infection may affect DNA extraction efficiency

Frequently Asked Questions

What is DPAGT1 gene glycosylation disorder type 1J?
DPAGT1 gene glycosylation disorder type 1J (also called CDG1J) is a rare inherited condition caused by mutations in the DPAGT1 gene. This gene provides instructions for making an enzyme involved in the glycosylation of proteins. The disorder affects multiple body systems and often causes developmental delay, intellectual disability, seizures, and muscle tone problems.
How is the DPAGT1 NGS genetic test performed?
The test uses Next-Generation Sequencing (NGS) technology to read the DNA sequence of the DPAGT1 gene. All coding exons and exon-intron boundaries are targeted and analyzed for pathogenic variants, as well as exon-level deletions/duplications.
What is the cost of the DPAGT1 NGS genetic test at DNA Labs India?
The special discounted price of the DPAGT1 Gene Glycosylation Disorder Type 1J NGS Genetic Test at DNA Labs India is Rs 20,000. This includes home sample collection in selected cities, laboratory analysis, and a pre-test genetic counselling session.
Which sample types are accepted for this test?
The accepted sample types are: (i) whole blood in an EDTA vacutainer, (ii) extracted DNA, and (iii) one drop of blood applied on an FTA card. The sample should be properly labeled and transported.
Is fasting required for this test?
No, fasting is not required for this genetic test. You can eat and drink normally. Avoid alcohol and tobacco for 24 hours before sampling, though this is not mandatory.
How long does it take to get the report?
The turnaround time for this test is 3 to 4 weeks from the date the sample is received by the laboratory. Reports are shared through online portal, email, and WhatsApp.
Do I need genetic counselling before or after the test?
Yes. The test includes a pre-test genetic counselling session to draw a family pedigree and discuss the purpose of the test. After the test, post-test counselling is strongly recommended to understand the result, its impact on the family, and recurrence risk.
What does a positive result mean?
If the test identifies a pathogenic or likely pathogenic variant in the DPAGT1 gene, it confirms the molecular diagnosis of congenital disorder of glycosylation type 1J. The inheritance is autosomal recessive, which means both copies of the gene must be altered for the disorder to appear.
Can this test be done on a newborn or infant?
Yes. This genetic test can be performed at any age. For infants, a small blood sample collected on an FTA card is often used. It is important to have a clinical suspicion of a congenital disorder of glycosylation before testing.
What are the limitations of the NGS test for DPAGT1?
The test detects variants in the coding regions and intron-exon boundaries of the DPAGT1 gene. It may not detect deep intronic mutations, large structural rearrangements, or other genetic causes of a congenital disorder of glycosylation. A negative result does not completely exclude a CDG, and other genes may also need to be studied.
What is the inheritance pattern of DPAGT1-CDG?
DPAGT1 gene glycosylation disorder type 1J is inherited in an autosomal recessive pattern. Both parents typically carry one copy of a mutated gene. Each child of such a couple has a 25% chance of being affected, a 50% chance of being a carrier, and a 25% chance of being unaffected and a non-carrier.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for online bookings of this test across many cities in India, including Mumbai, Delhi, Bangalore, Hyderabad, Chennai, Kolkata, and more. The test is available at the discounted price of INR 20,000.
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.

Related Tests

Angelman Syndrome Test

₹10,000

Duchenne / Becker Muscular Dystrophy (DMD / BMD) Gene Mutation Test

₹14,000

Episodic Ataxia Type 1 Hotspot Test

₹11,500

Episodic Ataxia Comprehensive Profile Hotspot Test

₹16,000

Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test

₹7,500

Analyzer 18 SMA 18 Test Panel

₹1,755
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.

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.

Book Your Test

Enter your details and we'll connect you within 15 minutes.

🧬

Quick Connect

Enter your mobile number and we’ll connect you with the team.

+91

✅ Connecting you now...

🔒 Your number is used to respond to this request.