AP1S1 Gene MEDNIK syndrome NGS Genetic Test
Also known as: MEDNIK Syndrome Genetic Test, AP1S1 Gene Mutation Analysis
AP1S1 Gene MEDNIK syndrome NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses NGS Technology on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr Pasupathy Arumugam
Consultant Pathologist · Reg: 21521
Last reviewed: September 7, 2026
Overview
To diagnose MEDNIK syndrome by detecting pathogenic mutations in the AP1S1 gene using NGS technology, aiding in clinical management and genetic counseling.
- Test Code
- 2443
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks
- Fasting Required
- No
- Method
- NGS Technology
Sample Collection
Clinical history review and genetic counseling session recommended to draw a pedigree chart of family members.
Method: Blood Draw
Laboratory Analysis
Blood sample collection via venipuncture or use of FTA card for one drop of blood.
Report Delivery
Sample is processed in the laboratory for DNA extraction and NGS analysis.
Timeline: 3 to 4 Weeks
Patient Instructions
About This Test
Who Should Get This Test
To diagnose MEDNIK syndrome by detecting pathogenic mutations in the AP1S1 gene using NGS technology, aiding in clinical management and genetic counseling.
How to Prepare
- Use sterile equipment
- Label samples correctly
- Transport at ambient room temperature
Doctor's Notes
Reviewed by Dr Pasupathy Arumugam — MBBS, MD (Pathology) · Reg. No. 21521
"Early genetic testing for MEDNIK syndrome can guide management, inform family planning, and improve patient outcomes through targeted interventions."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed samples
- Incorrect labeling
- Insufficient volume
Understanding Your Results
Positive
Pathogenic mutation detected, confirming MEDNIK syndrome diagnosis.
Negative
No pathogenic variants found; clinical correlation advised.
Variant of Uncertain Significance
Genetic variant identified but clinical significance unknown; further evaluation recommended.
If symptoms of MEDNIK syndrome are present, or if there is a family history of genetic disorders, consult a geneticist or specialist for evaluation and testing.
Limitations
- ⚠May not detect all genetic variants
- ⚠Results require clinical correlation
- ⚠Not a substitute for comprehensive clinical evaluation
Risks & Considerations
- ●Minor bruising at blood draw site
- ●Rare risk of infection
Interfering Factors
- ●Poor sample quality
- ●Contamination during collection
- ●Insufficient DNA quantity
Frequently Asked Questions
What is MEDNIK syndrome?
What are the symptoms of MEDNIK syndrome?
How is MEDNIK syndrome diagnosed?
What is the cost of the AP1S1 Gene MEDNIK Syndrome NGS Genetic Test in India?
What sample is required for the test?
Is fasting required for this test?
How long does it take to get the test results?
Is home sample collection available?
Who should consider this genetic test?
What does a positive test result mean?
Can this test be used for prenatal diagnosis?
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