PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia NGS Genetic DNA Test
Comprehensive Genetic Analysis for Rare Inherited Disorders
The PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia NGS Genetic DNA Test represents a breakthrough in genetic diagnostics for rare inherited conditions affecting both skin integrity and gastrointestinal development. This advanced testing methodology utilizes Next-Generation Sequencing (NGS) technology to provide comprehensive analysis of the PLEC gene, which plays a critical role in maintaining cellular structure and function.
What This Test Measures and Detects
This specialized genetic test specifically targets mutations in the PLEC gene, which encodes plectin, a crucial protein involved in connecting intermediate filaments to cellular membranes. The test detects:
- Point mutations, deletions, and insertions in the PLEC gene
- Pathogenic variants associated with epidermolysis bullosa simplex
- Genetic alterations causing pyloric atresia
- Inheritance patterns for family planning purposes
- Carrier status identification in unaffected family members
Who Should Consider This Genetic Test
This test is particularly important for individuals presenting with:
- Newborns or infants with skin blistering and feeding difficulties
- Patients with congenital pyloric atresia and skin fragility
- Individuals with family history of epidermolysis bullosa
- Couples with previous affected children planning future pregnancies
- Patients with unexplained skin fragility and gastrointestinal abnormalities
- Individuals seeking prenatal diagnosis in high-risk pregnancies
Clinical Benefits of Genetic Testing
Undergoing the PLEC gene test provides numerous advantages for patients and healthcare providers:
- Accurate diagnosis and differentiation from other blistering disorders
- Personalized treatment planning based on genetic findings
- Informed genetic counseling for family members
- Early intervention strategies for affected infants
- Reproductive planning guidance for at-risk couples
- Comprehensive understanding of disease prognosis and management
Understanding Your Test Results
Our genetic specialists provide detailed interpretation of your results, including:
- Clear explanation of identified genetic variants
- Clinical significance of detected mutations
- Inheritance pattern analysis and recurrence risks
- Personalized recommendations for medical management
- Referral to appropriate specialists for comprehensive care
- Follow-up testing recommendations when indicated
Test Information and Pricing
| Test Details | Information |
|---|---|
| Test Name | PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia 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 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 cities. Our network of certified genetic testing facilities ensures consistent, high-quality results regardless of your location.
Take the Next Step Toward Genetic Clarity
Don’t let uncertainty about genetic conditions affect your family’s future. Our team of genetic specialists is ready to provide the comprehensive testing and counseling you need. Contact us today to schedule your genetic evaluation and gain valuable insights into your genetic health.
Call or WhatsApp: +1(267) 388-9828 to book your PLEC Gene Epidermolysis Bullosa Simplex with Pyloric Atresia NGS Genetic DNA Test today. Our genetic counselors are available to answer your questions and guide you through the testing process.
