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DOLK Gene Glycosylation disorder type 1M NGS Genetic Test

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DOLK Gene Glycosylation disorder type 1M NGS Genetic Test

Short Name: DOLK Gene Test

Also known as: DOLK-CDG Type 1M, Congenital Disorder of Glycosylation Type 1M

DOLK Gene Glycosylation disorder type 1M 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 3-4 weeks. Free home collection in 300+ cities across India.

NGS Genetic Test🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr Pasupathy Arumugam

Dr Pasupathy Arumugam

Consultant Pathologist · Reg: 21521

Last reviewed: September 7, 2026

Overview

To identify mutations in the DOLK gene that cause Glycosylation Disorder Type 1M, aiding in diagnosis, management, and genetic counseling.

Test Code
2043
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3-4 weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No specific preparation required. Genetic counseling session recommended to discuss implications and obtain informed consent.

Method: Venipuncture

Step 2

Laboratory Analysis

Blood sample will be collected by a trained phlebotomist using standard venipuncture technique.

Step 3

Report Delivery

Apply pressure to the puncture site to prevent bleeding. Monitor for any adverse effects.

Timeline: 3-4 weeks

Patient Instructions

1
Before the Test:Genetic counseling session to discuss test implications, draw a pedigree chart, and obtain informed consent.
2
During the Test:Blood sample collection and processing in the laboratory using NGS technology.
3
After the Test:Report generation and delivery, followed by genetic counseling to explain results and next steps.

About This Test

Who Should Get This Test

To identify mutations in the DOLK gene that cause Glycosylation Disorder Type 1M, aiding in diagnosis, management, and genetic counseling.

How to Prepare

  • Use aseptic technique
  • Label sample correctly with patient details
  • Transport at ambient room temperature
  • Use FTA card for one-drop blood collection if applicable

Doctor's Notes

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

"Early genetic testing for DOLK gene disorders can aid in timely intervention and genetic counseling for affected families."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample Volume5 ml
ContainerEDTA tube or FTA card
Collection MethodVenipuncture

Sample Stability

Blood: Stable for 48 hours at room temperature
Extracted DNA: Stable for years when stored at -20°C or below
Sample Rejection Criteria:
  • Insufficient sample volume
  • Hemolyzed or clotted sample
  • Incorrect sample type or container
  • Leaking or damaged samples

Understanding Your Results

Results are interpreted by a clinical geneticist to determine the presence of pathogenic variants in the DOLK gene, which are associated with Glycosylation Disorder Type 1M.
📊

No pathogenic variants detected

Normal result; low risk for DOLK-related disorder. Clinical correlation recommended if symptoms persist.

📊

Pathogenic variant(s) detected

Confirms diagnosis of DOLK Gene Glycosylation Disorder Type 1M. Genetic counseling and appropriate management should be initiated.

⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, intellectual disability, or failure to thrive are present, consult a geneticist or pediatrician for evaluation and possible testing.

Limitations

  • ⚠May not detect all types of mutations
  • ⚠Variants of uncertain significance may be reported
  • ⚠Results require clinical correlation and genetic counseling

Risks & Considerations

  • ●Minor bruising or discomfort at the blood draw site
  • ●Very low risk of infection
  • ●Psychological impact of test results

Interfering Factors

  • ●Sample contamination
  • ●Degraded DNA
  • ●Hemolyzed blood sample

Frequently Asked Questions

What is DOLK Gene Glycosylation Disorder Type 1M?
It is a rare genetic disorder caused by mutations in the DOLK gene, affecting glycosylation and leading to symptoms like developmental delays and seizures.
What are the symptoms of this disorder?
Common symptoms include developmental delays, intellectual disability, seizures, abnormal facial features, failure to thrive, and brain/nervous system abnormalities.
How is the NGS Genetic Test performed?
It involves analyzing DNA from a blood sample using Next-Generation Sequencing to detect mutations in the DOLK gene.
What is the cost of the test at DNA Labs India?
The test costs INR 20,000, with free home sample collection available across India.
Is home sample collection available?
Yes, DNA Labs India offers free home collection for this test in numerous cities across India.
How long does it take to get results?
Reports are typically delivered within 3 to 4 weeks after sample collection.
What do the results mean?
Results indicate if pathogenic variants in the DOLK gene are detected. Genetic counseling is provided to interpret results.
Is genetic counseling included?
Yes, a genetic counseling session is recommended before testing and included in the service to draw a pedigree chart and discuss implications.
Are there any risks associated with the test?
Risks are minimal, such as minor bruising from blood draw. The test itself has no significant medical risks.
How accurate is the NGS Genetic Test?
NGS technology is highly accurate for detecting genetic variants, but results require clinical correlation and may not identify all mutation types.
Can this test be used for prenatal diagnosis?
This test is typically for postnatal diagnosis. Prenatal testing options should be discussed with a genetic counselor.
What should I do if the test is positive?
If pathogenic variants are detected, consult a geneticist for management, genetic counseling, and potential treatment options.
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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