ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test
Short Name: ADK Gene NGS Test
Also known as: ADK Gene Mutation Test, Adenosine Kinase Deficiency Genetic Test, Hypermethioninemia NGS Panel
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 samples. Results in Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 3, 2026
Overview
The purpose of this test is to confirm or rule out a diagnosis of hypermethioninemia due to adenosine kinase deficiency by identifying pathogenic mutations in the ADK gene. It aids in clinical management, prognosis, and genetic counseling for affected families.
- Test Code
- 5790
- CPT Code
- 81407
- ICD Code
- E72.1
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
- Fasting Required
- No
- Method
- Next-Generation Sequencing (NGS)
Sample Collection
No special preparation required. However, a genetic counseling session is recommended to discuss the test implications and family history.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn by a trained phlebotomist. The procedure is quick and minimally invasive.
Report Delivery
No specific precautions. The sample will be sent to the laboratory for analysis. Results will be communicated within 3-4 weeks.
Timeline: Reports are typically available within 3 to 4 weeks after the sample reaches the laboratory.
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to confirm or rule out a diagnosis of hypermethioninemia due to adenosine kinase deficiency by identifying pathogenic mutations in the ADK gene. It aids in clinical management, prognosis, and genetic counseling for affected families.
How to Prepare
- Ensure the patient's identity is verified
- Use EDTA vacutainer for blood collection
- Label the sample with patient details
- Transport at ambient temperature to the laboratory
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of ADK deficiency is crucial for timely management and family counseling. This NGS test provides definitive molecular confirmation."
Last medically reviewed: September 3, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrect anticoagulant
- Insufficient sample volume
- Sample received after prolonged transit time
Understanding Your Results
Consult a clinical geneticist or pediatric metabolic specialist if the test result is positive or if you have concerns about your child's development, seizures, or elevated methionine levels.
Limitations
- ⚠This test does not detect large gene rearrangements or deep intronic variants
- ⚠Variant of uncertain significance (VUS) may require further family studies
- ⚠Negative result does not exclude all genetic causes of hypermethioninemia
- ⚠Test is not intended for carrier screening in general population
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for uncertain results (VUS)
Interfering Factors
- ●Contaminated or degraded DNA sample
- ●Incomplete clinical information
- ●Presence of large deletions/duplications not detected by standard NGS
- ●Mutations in non-coding regulatory regions
Compare With Similar Tests
| Test | ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test | Whole Exome Sequencing | Sanger Sequencing | Methionine Level Test |
|---|---|---|---|---|
| Comparison | ADK Gene Hypermethioninemia due to adenosine kinase deficiency NGS Genetic Test | WES covers all coding regions of all genes, while this test is targeted to ADK gene only. WES is more comprehensive but costlier and may have incidental findings. | Sanger is used for targeted single variant confirmation, but NGS is preferred for full gene analysis due to higher throughput and detection of novel variants. | Biochemical test that measures methionine in blood, but does not identify the genetic cause. This NGS test provides molecular confirmation. |
Frequently Asked Questions
What is ADK gene hypermethioninemia?
How is this NGS test performed?
What is the cost of the test?
How long does it take to get results?
Is fasting required before the test?
Can this test be done on children?
What does a positive result mean?
What if the result is negative?
Is genetic counseling included?
Can this test be used for prenatal diagnosis?
Are there any risks associated with the test?
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