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ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test

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ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test

Short Name: ADK Gene NGS Test

Also known as: Adenosine Kinase Deficiency Genetic Test, ADK Deficiency NGS Test

ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Saliva samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestBoth Male and FemaleAll Ages🏠 Home Collection

🩺 Medically Reviewed By

Overview

To diagnose hypermethioninemia caused by adenosine kinase deficiency through genetic analysis of the ADK gene using NGS technology.

Test Code
2097
Price
₹20,000
Sample Type
Blood or Saliva
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling is recommended to discuss implications and obtain informed consent.

Method: Venipuncture for blood, swab for saliva

Step 2

Laboratory Analysis

Standard blood draw via venipuncture or saliva collection using a sterile swab.

Step 3

Report Delivery

Label samples correctly, store at recommended temperatures, and transport to the laboratory promptly.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Consult with a genetic counselor to understand the test's implications and provide informed consent.
2
During the Test:Sample collection is performed as per standard procedures; minimal discomfort expected.
3
After the Test:Results are available online within 3-4 weeks. Follow up with your physician for interpretation and next steps.

About This Test

Who Should Get This Test

To diagnose hypermethioninemia caused by adenosine kinase deficiency through genetic analysis of the ADK gene using NGS technology.

How to Prepare

  • For saliva collection, avoid eating, drinking, or smoking for 30 minutes prior
  • For blood collection, no fasting is required, but ensure proper hydration
  • Use provided containers and follow aseptic techniques
  • Complete all documentation and consent forms

Doctor's Notes

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

"Early diagnosis through genetic testing is crucial for managing hypermethioninemia and preventing developmental complications in affected individuals."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Saliva
Sample Volume5 ml of blood or 2 ml of saliva
ContainerEDTA tube for blood, sterile container for saliva
Collection MethodVenipuncture for blood, swab for saliva

Sample Stability

Blood: Stable for 72 hours when stored at 2-8°C
Saliva: Stable at room temperature for up to 24 hours
Sample Rejection Criteria:
  • Hemolyzed or clotted blood samples
  • Insufficient sample volume
  • Incorrect sample type or container
  • Missing or illegible labeling

Understanding Your Results

The test results indicate the presence or absence of pathogenic mutations in the ADK gene, confirming a diagnosis of hypermethioninemia due to adenosine kinase deficiency.
Positive result: Pathogenic variant detected, confirming ADK gene hypermethioninemia. Consult a specialist for management.
Negative result: No pathogenic variants identified. Symptoms may be due to other causes; further evaluation recommended.
Variant of uncertain significance (VUS): Genetic counseling and additional family studies may be advised for clarification.
⚠️ When to Consult a Doctor:

If symptoms such as developmental delays, seizures, or elevated methionine levels are present, or if there is a family history of metabolic disorders.

Limitations

  • May not detect all mutation types, such as large deletions or deep intronic variants
  • Results require clinical correlation and genetic counseling
  • Cannot predict disease severity or progression with certainty

Risks & Considerations

  • Potential psychological impact of genetic results
  • Privacy concerns with genetic data storage
  • Minimal risk from blood draw or saliva collection

Interfering Factors

  • Sample contamination during collection or transport
  • Degraded DNA due to improper storage
  • Hemolyzed or lipemic blood samples

Compare With Similar Tests

TestADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic TestMethionine Level TestHomocysteine TestSanger Sequencing for ADK GeneMetabolic Panel Genetic Tests
ComparisonADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test

Frequently Asked Questions

What is ADK Gene Hypermethioninemia?
It is a rare genetic disorder caused by mutations in the ADK gene, leading to adenosine kinase deficiency and elevated methionine levels, affecting nervous system function.
How is the NGS Genetic Test performed?
The test uses Next-Generation Sequencing technology to analyze the ADK gene from a blood or saliva sample, identifying genetic mutations.
What are the common symptoms of ADK deficiency?
Symptoms include developmental delays, intellectual disability, seizures, muscle weakness, abnormal movements, and behavioral problems, often starting in childhood.
What is the cost of the ADK Gene NGS Test in India?
The test costs INR 20,000 at DNA Labs India, with free home sample collection available nationwide.
How long does it take to receive the test results?
Results are typically available within 3 to 4 weeks after sample collection.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home collection for blood or saliva samples across many cities in India.
What sample types are accepted for the test?
Blood (5 ml in EDTA tube) or saliva (2 ml in sterile container) are accepted.
Who should consider taking this genetic test?
Individuals with symptoms of hypermethioninemia, family history of ADK deficiency, or those recommended by a healthcare provider.
What does a positive test result indicate?
A positive result confirms the presence of pathogenic mutations in the ADK gene, diagnosing hypermethioninemia due to adenosine kinase deficiency.
How accurate is the NGS Genetic Test for ADK gene mutations?
NGS is highly accurate for detecting genetic variants, but clinical correlation is essential for definitive diagnosis.
Are there any risks or side effects associated with the test?
Risks are minimal, including potential psychological impact of results and minor discomfort from sample collection.
How can I book the ADK Gene NGS Test with DNA Labs India?
You can book online through our website or contact us via phone or WhatsApp for assistance with sample collection and payment.
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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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.

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