TMPRSS15 Gene Enterokinase Deficiency NGS Genetic DNA Test
Comprehensive Genetic Screening for Metabolic Disorders
The TMPRSS15 Gene Enterokinase Deficiency NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare metabolic conditions. Enterokinase deficiency is an autosomal recessive disorder that disrupts the activation of pancreatic digestive enzymes, leading to severe protein malabsorption and nutritional deficiencies. Our advanced Next-Generation Sequencing technology provides unparalleled accuracy in detecting mutations within the TMPRSS15 gene, enabling early intervention and personalized treatment strategies.
What This Test Measures and Detects
This sophisticated genetic analysis specifically targets the TMPRSS15 gene, which encodes the enzyme enteropeptidase (enterokinase). The test identifies:
- Pathogenic variants and mutations in the TMPRSS15 gene
- Single nucleotide polymorphisms (SNPs) associated with enterokinase deficiency
- Copy number variations affecting gene function
- Inheritance patterns for genetic counseling purposes
- Risk assessment for family members
Who Should Consider This Genetic Test
This comprehensive screening is recommended for individuals presenting with:
- Chronic diarrhea and failure to thrive in infancy
- Severe protein malabsorption symptoms
- Family history of enterokinase deficiency or similar metabolic disorders
- Unexplained nutritional deficiencies despite adequate intake
- Developmental delays associated with malnutrition
- Consanguineous parentage with metabolic concerns
Key Benefits of Genetic Testing
- Early Diagnosis: Enables prompt intervention before severe complications develop
- Personalized Treatment: Guides specific nutritional and medical management
- Family Planning: Provides crucial information for genetic counseling and reproductive decisions
- Accurate Prognosis: Helps predict disease progression and long-term outcomes
- Cost-Effective: Prevents unnecessary diagnostic procedures and treatments
Understanding Your Test Results
Your genetic test report will provide comprehensive information about your TMPRSS15 gene status:
- Normal Result: No pathogenic variants detected – low risk for enterokinase deficiency
- Carrier Status: One mutated copy detected – typically asymptomatic but important for family planning
- Affected Status: Two mutated copies detected – confirms enterokinase deficiency diagnosis
- Variant of Uncertain Significance: Requires additional family studies for interpretation
All results include detailed explanations and recommendations for follow-up care with our genetic counseling team.
Test Pricing and Details
| Test Component | Details |
|---|---|
| Test Name | TMPRSS15 Gene Enterokinase Deficiency 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 |
| Testing Method | Next-Generation Sequencing (NGS) Technology |
Pre-Test Requirements
Before scheduling your test, please ensure:
- Complete clinical history documentation
- Genetic counseling session to create family pedigree chart
- Discussion of testing implications with healthcare provider
- Informed consent process completion
Nationwide Accessibility
We proudly serve patients across the United States with convenient testing locations in all major metropolitan areas including New York, Los Angeles, Chicago, Houston, Phoenix, Philadelphia, San Antonio, San Diego, Dallas, San Jose, and many more. Our network of certified genetic counselors and healthcare professionals ensures consistent, high-quality care regardless of location.
Take Control of Your Genetic Health Today
Don’t let uncertainty about metabolic disorders affect your quality of life. Our TMPRSS15 Gene Enterokinase Deficiency NGS Genetic DNA Test provides the clarity you need for informed healthcare decisions. With our limited-time discount pricing and comprehensive genetic analysis, you can access cutting-edge diagnostics at an affordable cost.
Ready to begin your genetic health journey? Contact our dedicated genetic specialists today at +1(267) 388-9828 or schedule your consultation online. Our team is available to answer your questions and guide you through the testing process with compassion and expertise.
