EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test
Introduction
The EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify genetic mutations associated with Hirschsprung disease, a serious condition that affects the large intestine. By utilizing Next-Generation Sequencing (NGS) technology, this test offers a comprehensive analysis of the EDN3 gene, which plays a crucial role in the development of the enteric nervous system. Understanding the genetic underpinnings of this disease is vital for early diagnosis, treatment planning, and family counseling.
What the Test Measures
This test specifically measures mutations in the EDN3 gene, which can lead to Hirschsprung disease. By detecting these mutations, healthcare providers can determine the likelihood of the disease’s occurrence and its potential impact on the patient’s health.
Who Should Consider This Test?
Individuals who should consider the EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test include:
- Infants and children presenting symptoms such as severe constipation, abdominal distension, or failure to thrive.
- Individuals with a family history of Hirschsprung disease.
- Patients with a clinical diagnosis of Hirschsprung disease seeking genetic confirmation.
Benefits of Taking the Test
The benefits of undergoing the EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test include:
- Early and accurate diagnosis of Hirschsprung disease.
- Informed treatment options based on genetic findings.
- Guidance for family planning and genetic counseling.
- Peace of mind for patients and their families regarding the genetic aspects of the disease.
Understanding Your Results
Results from the EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test will provide information on whether mutations are present in the EDN3 gene. A genetic counselor will help interpret these results, discussing their implications for treatment and family health.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test | 400000 NGN | 560000 NGN |
Booking Your Test
To book the EDN3 Gene Hirschsprung Disease NGS Genetic DNA Test, please contact us at +2348077798758 or visit our website. Our dedicated team is ready to assist you with any inquiries and guide you through the booking process.
Additional Information
Turnaround Time: 3 to 4 Weeks
Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
Pre-test Instructions: A Clinical History of the Patient who is going for the test is required, along with a Genetic Counseling session to draw a pedigree chart of family members affected with EDN3 Gene Hirschsprung disease.
Specialty and Department
This test falls under the specialty of Pediatrics and the department of Genetics, utilizing NGS Technology to address conditions related to Dysmorphology.