ATP7A Gene Menkes disease NGS Genetic Test
Also known as: Menkes syndrome, Kinky hair disease
ATP7A Gene Menkes disease NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood, Extracted DNA, or FTA Card samples. Results in 3 to 4 weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
To confirm the diagnosis of Menkes disease and identify specific mutations in the ATP7A gene for accurate management and genetic counseling.
- Test Code
- 5460
- Price
- ₹20,000
- Sample Type
- Blood, Extracted DNA, or FTA Card
- Result Time
- 3 to 4 weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history review and genetic counseling session to draw a pedigree chart.
Method: Venipuncture for blood, or FTA card collection
Laboratory Analysis
Blood sample collection via venipuncture or FTA card.
Report Delivery
Sample sent to laboratory for analysis.
Timeline: 3 to 4 weeks
Patient Instructions
About This Test
Who Should Get This Test
To confirm the diagnosis of Menkes disease and identify specific mutations in the ATP7A gene for accurate management and genetic counseling.
How to Prepare
- Provide clinical history documents
- Ensure proper sample handling
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early diagnosis through genetic testing is crucial for managing Menkes disease and providing appropriate care."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Insufficient sample volume
Understanding Your Results
Pathogenic variant detected
Confirms diagnosis of Menkes disease
No pathogenic variant
Menkes disease unlikely, but clinical correlation needed
If symptoms of Menkes disease are present or for genetic counseling.
Limitations
- ⚠Test may not detect all mutations
- ⚠Results require genetic counseling
Risks & Considerations
- ●Minimal risk from blood draw
- ●Psychological impact of results
Interfering Factors
- ●Sample contamination
- ●Degraded DNA
Frequently Asked Questions
What is Menkes disease?
What causes Menkes disease?
What are the symptoms of Menkes disease?
How is Menkes disease diagnosed?
What is the ATP7A gene?
What is NGS genetic testing?
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