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DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

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DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

Short Name: DPM1 NGS Genetic Test

Also known as: DPM1-CDG, Congenital Disorder of Glycosylation Type 1E, CDG1E, Dolichol-phosphate-mannose synthase deficiency

DPM1 Gene Glycosylation disorder type 1E NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in Reports are generally available within 3 to 4 weeks after the sample is received in 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 detect pathogenic variants in the DPM1 gene to confirm the diagnosis of DPM1 gene glycosylation disorder type 1E. It is intended as a targeted molecular test for individuals with clinical features suggestive of congenital disorder of glycosylation type 1E.

Test Code
4108
ICD Code
E77.8
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports are generally available within 3 to 4 weeks after the sample is received in the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS), Sanger Sequencing for confirmation
Step 1

Sample Collection

No fasting is required. A pre-test genetic counselling session is recommended to document clinical history, draw a family pedigree, explain possible results, and obtain informed consent.

Method: Peripheral blood draw, dried blood spot on FTA card, or extracted DNA submission

Step 2

Laboratory Analysis

A small blood sample is collected from a vein in the arm, or one drop of blood is placed on an FTA card if home collection is chosen. For extracted DNA, the provided DNA sample is submitted in a labelled sterile tube.

Step 3

Report Delivery

There are no activity restrictions after sample collection. The sample should be transported to the laboratory as per the instructions provided in the test kit.

Timeline: Reports are generally available within 3 to 4 weeks after the sample is received in the laboratory.

Patient Instructions

1
Before the Test:Please share the patient's clinical history, prior metabolic tests, and pedigree information with the genetic counsellor. No fasting is needed.
2
During the Test:The sample is collected by venipuncture, FTA card spot collection, or already extracted DNA submission. The process is quick and generally painless.
3
After the Test:Once the sample is received by the laboratory, NGS sequencing and analysis are performed. Results will be shared as soon as they are ready, typically within 3 to 4 weeks.

About This Test

Who Should Get This Test

The purpose of this NGS genetic test is to detect pathogenic variants in the DPM1 gene to confirm the diagnosis of DPM1 gene glycosylation disorder type 1E. It is intended as a targeted molecular test for individuals with clinical features suggestive of congenital disorder of glycosylation type 1E.

How to Prepare

  • Pre-test genetic counselling and informed consent are required.
  • No fasting is required.
  • Use the EDTA blood tube or FTA card provided in the kit.
  • Label the sample with the patient's name, date of birth and collection date.
  • Send the sample to the laboratory within 24-48 hours of collection.

Doctor's Notes

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

"Genetic testing for DPM1-associated glycosylation disorder should be combined with a careful clinical evaluation by a clinical geneticist and paediatric neurologist. A pre-test genetic counselling session helps document the family pedigree and facilitates informed decision-making."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeBlood: 3 to 5 mL in EDTA; Extracted DNA: ~1 μg; FTA card: 1 blood spot
ContainerEDTA vacutainer / sterile DNA tube / FTA card
Collection MethodPeripheral blood draw, dried blood spot on FTA card, or extracted DNA submission

Sample Stability

EDTA whole blood: stable for 24-48 hours at room temperature and up to 72 hours at 2-8°C.
FTA dried blood spot: stable at room temperature for several weeks.
Extracted DNA: stable at -20°C for long-term storage.
Sample Rejection Criteria:
  • Clotted or grossly haemolysed blood sample
  • Mislabeled sample or missing patient identification
  • Insufficient DNA concentration or degraded DNA
  • Sample transported at inappropriate temperature
  • Missing consent form or clinical history

Understanding Your Results

The genetic test result should be interpreted by a clinical geneticist in the context of the patient's clinical history, neurological findings, imaging and metabolic investigations.
📊

Negative result. DPM1-related CDG is not confirmed. If clinical suspicion persists, consider multi-gene CDG panel, whole exome sequencing, or chromosomal microarray.

Result type: No pathogenic variant detected

📊

Consistent with carrier status if the inheritance pattern is autosomal recessive; clinical correlation and family studies are required.

Result type: Heterozygous pathogenic/likely pathogenic variant in DPM1

📊

Confirms the molecular diagnosis of DPM1 gene glycosylation disorder type 1E (CDG1E).

Result type: Two pathogenic/likely pathogenic variants in DPM1

📊

Inconclusive result. Further segregation analysis, mRNA studies or functional assays may be needed.

Result type: Variant of uncertain significance (VUS) in DPM1

⚠️ When to Consult a Doctor:

Consult a paediatric neurologist or clinical geneticist if the patient has seizures, global developmental delay, hypotonia, abnormal eye movements, recurrent infections, or failure to thrive with suspected CDG.

Limitations

  • ⚠NGS may not detect all types of DPM1 gene alterations such as large copy number variants, structural rearrangements or deep intronic mutations.
  • ⚠A variant of uncertain significance may require additional family studies and functional testing.
  • ⚠A negative result does not completely exclude DPM1 glycosylation disorder if clinical suspicion remains high.
  • ⚠This test only evaluates the DPM1 gene and does not rule out other genetic causes of developmental delay, seizures, or congenital disorders of glycosylation.

Risks & Considerations

  • ●Blood collection may cause minor pain, bruising or bleeding at the puncture site.
  • ●Genetic testing may reveal carrier status or variants of uncertain significance, which can cause psychological or emotional distress.
  • ●Results may have reproductive implications for the patient and family members.

Interfering Factors

  • ●Maternal cell contamination in some sample types
  • ●History of prior allogeneic haematopoietic stem cell transplant
  • ●Poor DNA quality or insufficient DNA quantity
  • ●Presence of large deletions, duplications or deep intronic variants not detectable by standard NGS

Compare With Similar Tests

TestDPM1 Gene Glycosylation disorder type 1E NGS Genetic Test
ComparisonDPM1 Gene Glycosylation disorder type 1E NGS Genetic Test

Frequently Asked Questions

What is DPM1 gene glycosylation disorder type 1E?
DPM1 gene glycosylation disorder type 1E, also called CDG1E, is a rare inherited metabolic disorder caused by mutations in the DPM1 gene. It affects protein glycosylation and commonly causes seizures, developmental delay, hypotonia, abnormal eye movements, recurrent infections and failure to thrive.
What is the cost of this DPM1 NGS genetic test at DNA Labs India?
The DPM1 gene glycosylation disorder type 1E NGS genetic test costs Rs 20000.0 at DNA Labs India. This includes the test kit, sample collection, laboratory analysis and interpretive report.
What sample types are accepted for this test?
The test accepts blood, extracted DNA, or one drop of blood on an FTA card.
Do I need to fast before this test?
No, fasting is not required for the DPM1 NGS genetic test.
How long does it take to get the report?
Reports are generally available within 3 to 4 weeks after the sample is received by the laboratory.
How is the DPM1 gene NGS genetic test performed?
The test uses next-generation sequencing technology to sequence the DPM1 gene. Clinically significant variants are confirmed by Sanger sequencing before being reported.
Can this test confirm DPM1 glycosylation disorder type 1E?
Yes, the detection of two pathogenic or likely pathogenic DPM1 variants in trans confirms the molecular diagnosis. Results must be interpreted along with the clinical features.
Can a negative result rule out DPM1 glycosylation disorder?
A negative result reduces but does not completely exclude DPM1-related disease. Large deletions, duplications, deep intronic variants, or other CDG-related genes may require additional testing.
Is genetic counselling recommended for this test?
Yes, pre-test genetic counselling is recommended to document the family pedigree, explain the implications of results, and obtain informed consent.
Is home sample collection available?
Yes, DNA Labs India offers free home sample collection for online bookings for this test across many cities in India.
Can this test detect DPM1 carrier status?
Yes, in an appropriate family context, this NGS test can identify carriers of a single DPM1 pathogenic variant. Carrier testing should be performed with genetic counselling.
Are there any risks in this genetic test?
Physical risks are minimal, mainly mild pain or bruising at the blood collection site. The test can also reveal variants of uncertain significance or carrier status, which may have psychological and reproductive implications.
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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