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DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

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DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic Test

Short Name: DGUOK Gene NGS

Also known as: DGUOK Gene Mutation Analysis, Deoxyguanosine Kinase Gene Sequencing, DGUOK Gene Mitochondrial DNA Depletion Syndrome NGS Testing

DGUOK Gene Mitochondrial DNA depletion syndrome 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 will be delivered within 3 to 4 weeks after the sample is received by the laboratory. The report includes detected variants, variant classification, and clinical recommendations.. Free home collection in 300+ cities across India.

NGS Genetic TestAll ages (symptoms usually appear in infancy)🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

To detect pathogenic variants in the DGUOK gene in order to confirm a diagnosis of DGUOK-related mitochondrial DNA depletion syndrome, guide clinical management, and enable genetic counselling of family members.

Test Code
4326
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
Reports will be delivered within 3 to 4 weeks after the sample is received by the laboratory. The report includes detected variants, variant classification, and clinical recommendations.
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

No fasting is required. Please bring the patient's clinical history, previous biochemical reports, and any referral from the treating physician.

Method: Peripheral venous blood collection or dried blood spot on FTA card

Step 2

Laboratory Analysis

A small blood sample will be collected by a trained phlebotomist. For FTA cards, one drop of blood is gently applied to the marked area and air-dried.

Step 3

Report Delivery

There are no activity restrictions. You can resume normal diet and daily activities immediately after sample collection.

Timeline: Reports will be delivered within 3 to 4 weeks after the sample is received by the laboratory. The report includes detected variants, variant classification, and clinical recommendations.

Patient Instructions

1
Before the Test:No fasting is required. A genetic counselling session is recommended before testing to document family history, explain the procedure, and obtain informed consent.
2
During the Test:The sample collection is quick and involves a simple blood draw. If FTA card is used, a small finger-prick blood spot is collected on the card.
3
After the Test:Once the sample reaches the laboratory, DNA extraction, NGS sequencing and bioinformatics analysis are performed. The treating physician and genetic counsellor will discuss the report after it is released.

About This Test

Who Should Get This Test

To detect pathogenic variants in the DGUOK gene in order to confirm a diagnosis of DGUOK-related mitochondrial DNA depletion syndrome, guide clinical management, and enable genetic counselling of family members.

How to Prepare

  • Inform the laboratory about current medications and relevant clinical symptoms.
  • If using an FTA card, allow the blood spot to air dry completely before sealing in the provided envelope.
  • Label the sample tube or FTA card clearly with the patient's name, date of birth and unique patient ID.
  • Send the sample to the laboratory within 24–48 hours if stored at room temperature; refrigerate if delay is expected.

Doctor's Notes

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

"Early diagnosis in an infant with liver failure and neurological features is essential for clinical management, prognosis counselling and recurrence risk guidance for the family."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Sample VolumeAs per laboratory requirement for DNA extraction
ContainerEDTA tube for whole blood, DNA vial, or FTA card
Collection MethodPeripheral venous blood collection or dried blood spot on FTA card

Sample Stability

EDTA blood: stable for up to 24 hours at room temperature and up to 72 hours at 2–8°C.
Extracted DNA: stable for several weeks at -20°C.
FTA card: stable at room temperature in a dry, sealed envelope for transport.
Sample Rejection Criteria:
  • Clotted or insufficient blood sample
  • Improperly labeled samples or no patient identifiers
  • Contaminated, hemolysed or degraded blood sample
  • FTA card with wet blood spots or fungal contamination
  • Missing clinical history, consent form or referral

Understanding Your Results

The result of the DGUOK gene NGS test should be interpreted in the context of the patient's clinical presentation, biochemical findings, and family history. Genetic counselling is recommended for all individuals undergoing this test.
📊

Pathogenic or likely pathogenic variant detected in DGUOK gene

📊

No pathogenic variant detected in DGUOK gene

📊

Variant of uncertain significance identified

⚠️ When to Consult a Doctor:

Consult a clinical geneticist, pediatric neurologist or metabolic physician if the result is positive, a variant of uncertain significance is found, or the patient has persistent symptoms despite a negative DGUOK gene result.

Limitations

  • ⚠This test analyzes only the DGUOK gene and does not rule out other causes of mitochondrial DNA depletion syndrome.
  • ⚠Deep intronic variants, large deletions/duplications and mitochondrial genome mutations may not be detected.
  • ⚠Variants of uncertain significance may require additional familial segregation or functional studies.
  • ⚠A negative result does not completely exclude DGUOK-related disease if clinical suspicion is strong.

Risks & Considerations

  • ●Minimal bleeding or bruising at the blood draw site
  • ●Rare vasovagal reaction such as dizziness
  • ●FTA card collection is minimally invasive with very low risk

Interfering Factors

  • ●Inadequate DNA quantity or quality
  • ●Maternal contamination or sample mix-up
  • ●Mutations in deep intronic regions or large structural rearrangements may not be detected by this targeted NGS test

Frequently Asked Questions

What is DGUOK gene mitochondrial DNA depletion syndrome?
DGUOK gene mitochondrial DNA depletion syndrome is a rare inherited disorder caused by mutations in the DGUOK gene. It leads to a shortage of mitochondrial DNA and impaired function of mitochondria, especially in the liver and brain.
What is the role of the DGUOK gene?
The DGUOK gene provides instructions for making deoxyguanosine kinase, an enzyme required for the synthesis of mitochondrial DNA. Without normal enzyme function, mitochondrial DNA becomes depleted and mitochondria cannot produce energy properly.
What are the common symptoms of DGUOK gene mitochondrial DNA depletion syndrome?
Symptoms usually appear in infancy and may include poor feeding, failure to thrive, lethargy, hypotonia, seizures, developmental delay, liver dysfunction, enlarged heart, and lactic acidosis.
How is DGUOK gene mitochondrial DNA depletion syndrome diagnosed?
Diagnosis is based on clinical symptoms, family history, biochemical findings, and confirmed by genetic testing using Next-Generation Sequencing (NGS) of the DGUOK gene.
What is NGS genetic testing?
Next-Generation Sequencing is a high-throughput DNA sequencing method that simultaneously analyzes multiple regions of the genome. This targeted NGS test reads the coding regions and splice sites of the DGUOK gene with high accuracy.
What sample is required for the DGUOK gene NGS test?
The required sample can be whole blood, extracted DNA, or one drop of blood on an FTA card. Whole blood is usually collected in an EDTA tube.
Is fasting required before the DGUOK gene NGS test?
No, fasting is not required for this genetic test. However, you should follow any specific instructions given by your treating physician or genetic counsellor.
How long will the DGUOK gene NGS test report take?
The report is generally delivered within 3 to 4 weeks after the sample reaches the laboratory.
What does a negative DGUOK gene test result mean?
A negative result means no pathogenic variant was identified in the DGUOK gene. It reduces the likelihood of DGUOK-related disease but does not completely exclude a mitochondrial disorder because other genes or mitochondrial DNA mutations may be involved.
Does this test detect all mitochondrial DNA depletion syndromes?
No. This test specifically analyzes the DGUOK gene. Other nuclear genes such as POLG, TK2, TYMP, SUCLA2 and SUCLG1 also cause mitochondrial DNA depletion syndrome and would require a broader gene panel.
Who should get the DGUOK gene NGS test?
The test is recommended for infants and children with unexplained liver failure, neurological regression, hypotonia, lactic acidosis, or features of mitochondrial disease. It is also useful for families with a known DGUOK mutation.
Where can I book the DGUOK gene NGS genetic test?
You can book the test online through DNA Labs India. Free home sample collection is available in many cities across India including Delhi, Mumbai, Bangalore, Hyderabad, Chennai, Kolkata, Pune and more.
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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