AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test
Short Name: AHCY Gene NGS Test
Also known as: AHCY deficiency, S-adenosylhomocysteine hydrolase deficiency, Hypermethioninemia due to AHCY deficiency
AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood samples. Results in Results 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 7, 2026
Overview
The purpose of this test is to confirm a clinical diagnosis of AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase by identifying pathogenic mutations in the AHCY gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.
- Test Code
- 5792
- CPT Code
- 81407
- ICD Code
- E72.1
- Price
- ₹20,000
- Sample Type
- Blood
- Result Time
- Results 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 fasting required. However, a genetic counseling session is recommended before the test to discuss the implications and obtain informed consent.
Method: Venipuncture
Laboratory Analysis
A blood sample will be drawn from a vein in the arm. The procedure is quick and minimally invasive.
Report Delivery
No special precautions are needed. The sample will be sent to the laboratory for analysis. Results are typically available in 3-4 weeks.
Timeline: Results 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 a clinical diagnosis of AHCY gene hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase by identifying pathogenic mutations in the AHCY gene. It is also used for carrier testing in at-risk family members and for prenatal diagnosis in families with a known mutation.
How to Prepare
- No fasting required
- Inform the lab if the patient has had a blood transfusion in the past 3 months
- Ensure the sample is collected in an EDTA vacutainer
- Maintain sample at room temperature if delivered within 24 hours; otherwise refrigerate
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic diagnosis of AHCY deficiency is crucial for managing symptoms and preventing complications. This NGS test provides comprehensive analysis of the AHCY gene, aiding in accurate diagnosis and family counseling."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted sample
- Incorrectly labeled sample
- Sample received after prolonged transit without proper storage
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of AHCY deficiency. Genetic counseling is recommended for the family.
Variant of uncertain significance (VUS)
Further testing or family studies may be needed to clarify the significance.
No pathogenic variant detected
Does not rule out AHCY deficiency; other genetic or biochemical causes should be considered.
Consult a clinical geneticist or metabolic specialist if the test result is positive or if you have concerns about your child's development, liver function, or metabolic health.
Limitations
- ⚠This test detects mutations in the AHCY gene only; other genes causing hypermethioninemia are not analyzed
- ⚠Variants of uncertain significance may be reported; additional testing may be required
- ⚠NGS may not detect large deletions/duplications; additional methods may be needed
- ⚠Test results should be interpreted in the context of clinical findings and family history
Risks & Considerations
- ●Minimal risk of bruising or infection at the blood draw site
- ●Psychological impact of receiving genetic results
- ●Potential for incidental findings (unrelated genetic variants)
Interfering Factors
- ●Recent blood transfusion may affect DNA analysis
- ●Sample hemolysis may interfere with biochemical assays
- ●Incorrect sample labeling or handling
- ●Contamination of sample during collection
Compare With Similar Tests
| Test | AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test | Methionine Metabolic Panel | Whole Exome Sequencing (WES) | Sanger Sequencing |
|---|---|---|---|---|
| Comparison | AHCY Gene Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase NGS Genetic Test | This panel measures methionine and related metabolites but does not identify the genetic cause. The NGS test provides definitive molecular diagnosis. | WES covers all genes, but is more expensive and may yield incidental findings. This targeted test is cost-effective for AHCY-specific diagnosis. | Sanger sequencing is used for targeted single-variant testing when the familial mutation is known. NGS is preferred for initial diagnosis due to its comprehensive coverage. |
Frequently Asked Questions
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