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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 NGS Genetic Test

Also known as: DOLK Gene Mutation Analysis, CDG Type 1M Genetic Test, Congenital Disorder of Glycosylation Type 1M NGS Test

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 to 4 weeks from the date of sample receipt at the laboratory.. 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 3, 2026

Overview

The purpose of this test is to detect pathogenic variants in the DOLK gene that cause glycosylation disorder type 1M (CDG type 1M). NGS-based sequencing enables accurate and timely diagnosis, allowing clinicians to plan appropriate medical management and families to make informed reproductive decisions.

Test Code
4110
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 weeks from the date of sample receipt at the laboratory.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. It is advisable to bring any previous biochemical or genetic test reports. A genetic counselling session may be scheduled to record clinical history and construct a family pedigree.

Method: Peripheral Blood Draw or Dried Blood Spot

Step 2

Laboratory Analysis

A trained phlebotomist will collect a blood sample from a vein. In the case of an FTA card, a single drop of blood will be applied to the indicated circles and allowed to dry.

Step 3

Report Delivery

Once the sample has been collected, no restrictions are needed. You can resume all normal activities. The laboratory will process the sample and the report will be shared through the chosen delivery method.

Timeline: 3 to 4 weeks from the date of sample receipt at the laboratory.

Patient Instructions

1
Before the Test:Before the test, the patient or parents will meet a genetic counsellor to discuss the medical history and family pedigree. No special preparation such as fasting is needed.
2
During the Test:During the test, a small volume of blood is drawn or a few drops are spotted on an FTA card. The procedure is quick and causes minimal discomfort.
3
After the Test:After sample collection, the patient can continue regular activities. The lab will perform NGS and the report is expected in 3-4 weeks.

About This Test

Who Should Get This Test

The purpose of this test is to detect pathogenic variants in the DOLK gene that cause glycosylation disorder type 1M (CDG type 1M). NGS-based sequencing enables accurate and timely diagnosis, allowing clinicians to plan appropriate medical management and families to make informed reproductive decisions.

How to Prepare

  • Ensure that the patient's clinical history and genetic counselling notes are sent with the sample.
  • Label the sample tube or FTA card clearly with patient name, date, and unique identifier.
  • If using FTA card, allow the blood spot to dry completely before placing it in the biohazard bag.
  • Ship the sample to the laboratory within 24-48 hours of collection at room temperature.

Doctor's Notes

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

"Molecular confirmation of DOLK gene variants is essential for patients presenting with unexplained neurodevelopmental delay, as early diagnosis guides management and enables accurate genetic counselling for the family."

Last medically reviewed: September 3, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
ContainerEDTA Vacutainer or FTA Card
Collection MethodPeripheral Blood Draw or Dried Blood Spot

Sample Stability

Whole blood (EDTA): 24-48 hours at room temperature; up to 5 days at 2-8°C
Extracted DNA: stable for 1 year at -20°C or lower
FTA card: stable for months at room temperature, protected from moisture
Sample Rejection Criteria:
  • Hemolyzed or clotted blood
  • FTA card that is wet, mouldy, or not dried properly
  • Sample received after more than 5 days from collection
  • Incomplete patient identification or missing referral form

Understanding Your Results

This genetic test evaluates the DOLK gene for pathogenic changes that impair glycosylation. Identification of disease-causing variants in a patient with a matching clinical phenotype confirms the diagnosis of CDG type 1M. The final interpretation must be reviewed by a clinical geneticist.
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⚠️ When to Consult a Doctor:

Consult a geneticist, neurologist, or pediatrician if the child or family member has unexplained developmental delay, seizures, hypotonia, abnormal facial features, or an abnormal glycosylation screening test. Early genetic diagnosis supports symptom management and reproductive planning.

Limitations

  • ⚠NGS covers the coding region and splice-site boundaries; large deletions or rearrangements may not be detected by this NGS test.
  • ⚠Deep intronic variants and regulatory region mutations may not be evaluated.
  • ⚠Variants of uncertain significance (VUS) may require additional family studies to determine clinical relevance.
  • ⚠This test is not designed to detect somatic mosaicism or mitochondrial DNA variants.

Risks & Considerations

  • ●Mild pain or bruising at the venipuncture site
  • ●Rare risk of hematoma or infection at the injection site

Interfering Factors

  • ●Contamination of sample with foreign DNA
  • ●Insufficient or degraded DNA from the sample
  • ●Recent allogeneic bone marrow transplantation may interfere with germline genetic testing
  • ●Incorrect sample labelling or blood clot on FTA card

Frequently Asked Questions

What is the DOLK Gene Glycosylation Disorder Type 1M NGS Genetic Test?
It is a targeted next-generation sequencing test to detect mutations in the DOLK gene associated with CDG type 1M. It helps confirm a diagnosis in symptomatic patients or identify carriers in families.
How much does the test cost at DNA Labs India?
The test is priced at INR 20,000. This includes the test, sample collection, and NGS analysis. Home sample collection is free for online bookings.
What sample is needed for this test?
The sample can be whole blood in an EDTA tube, extracted DNA, or a few drops of blood collected on an FTA card.
Is fasting required for the DOLK gene test?
No, fasting is not required. You can eat and drink normally before the sample collection.
How long does it take to get the results?
Results are generally available within 3 to 4 weeks after the laboratory receives the sample.
What are the common symptoms of DOLK gene glycosylation disorder type 1M?
Common symptoms include developmental delay, intellectual disability, seizures, hypotonia, and abnormal facial features. Some patients may also have feeding difficulties, vision or hearing loss, and skeletal abnormalities.
Who should order this genetic test?
The test is usually recommended by a neurologist, clinical geneticist, or pediatrician when CDG type 1M is suspected based on clinical symptoms or biochemical screening.
Will health insurance cover the cost?
Insurance coverage varies by provider and policy. It is recommended to check with your insurer. DNA Labs India cannot guarantee reimbursement.
What does the NGS test include?
The test covers full coding regions of the DOLK gene, splice site boundaries, and small insertions/deletions. It provides a clinical interpretation along with the raw variant data.
Can this test detect all genetic mutations that cause CDG type 1M?
No genetic test is 100% sensitive. NGS may miss large gene deletions/duplications, deep intronic variants, or repeat expansions. Negative results do not entirely exclude the condition.
Is genetic counselling required before the test?
Yes, genetic counselling is recommended to discuss the clinical indication, explain the test limitations, and document a family pedigree. It helps ensure informed consent.
How will I receive the report?
The report will be delivered through the online portal, email, and WhatsApp once it is finalized. A physical copy can be obtained by visiting the laboratory if needed.
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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