EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test
Introduction to the Test
The EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test is a specialized diagnostic test that utilizes Next Generation Sequencing (NGS) technology to evaluate the EDNRB gene, which is critical in the development of the enteric nervous system. Hirschsprung disease, characterized by severe constipation or bowel obstruction, can be hereditary, making this test essential for early diagnosis and management.
What the Test Measures
This test detects mutations in the EDNRB gene, which may lead to Hirschsprung disease. By identifying these genetic changes, healthcare providers can better understand the risk of this condition in patients and their families.
Who Should Consider This Test?
Individuals who exhibit symptoms such as:
- Severe constipation
- Abdominal distension
- Failure to thrive in infants
Additionally, families with a history of Hirschsprung disease or related disorders should consider this test to assess their genetic risk factors.
Benefits of Taking the Test
- Early diagnosis of Hirschsprung disease, leading to timely intervention.
- Informed family planning and risk assessment for future pregnancies.
- Access to genetic counseling and support for affected families.
Understanding Your Results
Results from the EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test will provide insights into whether mutations are present in the EDNRB gene. A genetic counselor will assist in interpreting the results, explaining their implications, and discussing potential next steps.
Test Pricing
| Test Name | Discount Price | Regular Price |
|---|---|---|
| EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test | 400,000 NGN | 560,000 NGN |
Book the Test
To schedule your EDNRB Gene Hirschsprung Disease NGS Genetic DNA Test, please contact us at +2348077798758. Our team is ready to assist you in understanding your genetic health and the significance of this test.
Additional Information
- Turnaround Time: 3 to 4 Weeks
- Sample Type: Blood or Extracted DNA or One drop Blood on FTA Card
- Pre-Test Instructions: Clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with the EDNRB gene.
This test falls under the specialties of Pediatrics and Genetics, focusing on the method of NGS Technology for the diagnosis of Dysmorphology-related diseases.
