AP1S1 Gene MEDNIK Syndrome NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Multisystem Disorders
The AP1S1 Gene MEDNIK Syndrome NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions. MEDNIK syndrome, an acronym for Mental retardation, Enteropathy, Deafness, Neuropathy, Ichthyosis, and Keratoderma, is a complex autosomal recessive disorder caused by mutations in the AP1S1 gene. This comprehensive genetic test utilizes next-generation sequencing technology to provide accurate diagnosis and enable targeted treatment approaches for affected individuals and families.
What Does This Test Measure and Detect?
Our advanced NGS-based genetic test specifically targets and sequences the AP1S1 gene to identify pathogenic variants responsible for MEDNIK syndrome. The test detects:
- Point mutations, insertions, and deletions in the AP1S1 gene
- Autosomal recessive inheritance patterns
- Specific genetic variants affecting protein trafficking and cellular function
- Mutations impacting adaptor protein complex 1 sigma-1A subunit function
Who Should Consider This Genetic Test?
This test is recommended for individuals presenting with symptoms consistent with MEDNIK syndrome, including:
- Developmental delay and intellectual disability
- Severe diarrhea and enteropathy unresponsive to conventional treatments
- Progressive sensorineural hearing loss
- Peripheral neuropathy with muscle weakness
- Congenital ichthyosis and erythroderma
- Palmoplantar keratoderma
- Family history of similar multisystem disorders
- Unexplained combination of neurological, dermatological, and gastrointestinal symptoms
Clinical Benefits of Genetic Testing
Undergoing the AP1S1 Gene MEDNIK Syndrome NGS Genetic DNA Test provides numerous clinical advantages:
- Accurate Diagnosis: Confirms MEDNIK syndrome and differentiates it from similar conditions
- Personalized Treatment: Enables targeted therapeutic interventions based on genetic findings
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Early Intervention: Facilitates proactive management of multisystem complications
- Research Contribution: Advances understanding of rare genetic disorders
Understanding Your Test Results
Our comprehensive genetic report provides clear interpretation of your results:
- Positive Result: Identifies pathogenic variants in the AP1S1 gene, confirming MEDNIK syndrome diagnosis
- Negative Result: No disease-causing mutations detected in the AP1S1 gene
- Variant of Uncertain Significance: Identifies genetic changes requiring further clinical correlation
- Carrier Status: Determines if individuals carry one copy of the mutated gene
All results are accompanied by detailed clinical interpretation and recommendations from our certified genetic counselors.
Test Pricing and Details
| Test Feature | Details |
|---|---|
| Test Name | AP1S1 Gene MEDNIK Syndrome NGS Genetic DNA Test |
| Discount Price | $500 USD |
| Regular Price | $700 USD |
| Turnaround Time | 3 to 4 Weeks |
| Sample Type | Blood, Extracted DNA, or One Drop Blood on FTA Card |
Nationwide Testing Availability
We have diagnostic centers conveniently located across the United States, including major metropolitan areas such as New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network ensures accessible genetic testing services for patients throughout the country.
Pre-Test Requirements
Before scheduling your test, please ensure you have:
- Complete clinical history of the patient
- Scheduled genetic counseling session
- Family pedigree chart documenting affected relatives
- Relevant medical records and previous test results
Take Control of Your Genetic Health Today
Don’t let uncertainty about rare genetic conditions affect your quality of life. Our AP1S1 Gene MEDNIK Syndrome NGS Genetic DNA Test provides the answers you need for informed medical decisions. With our discounted price of $500 and comprehensive genetic analysis, you can access cutting-edge diagnostic technology without financial burden.
Call or WhatsApp us today at +1(267) 388-9828 to schedule your genetic test consultation and take the first step toward accurate diagnosis and personalized treatment.
Our team of genetic specialists, dermatologists, and clinical geneticists are ready to provide the expert care and support you deserve. Book your test now and join thousands of patients who have found answers through our advanced genetic testing services.
