NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test
Introduction
The NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the NRG1 gene that are associated with Hirschsprung disease. This condition, characterized by the absence of nerve cells in part of the intestine, can lead to severe gastrointestinal complications in affected individuals, particularly infants and young children. Early diagnosis through genetic testing is crucial for effective management and intervention.
What the Test Measures
This test employs Next-Generation Sequencing (NGS) technology to analyze the NRG1 gene. It detects specific genetic mutations that may contribute to Hirschsprung disease, allowing healthcare providers to understand the genetic basis of the condition in affected patients.
Who Should Consider This Test
Parents or guardians should consider this test if their child exhibits symptoms such as:
- Severe constipation or inability to pass stool within the first 48 hours of life
- Abdominal swelling
- Vomiting, particularly if it is green or bilious
- Failure to thrive or poor feeding
Additionally, individuals with a family history of Hirschsprung disease or associated genetic conditions should also consider testing.
Benefits of Taking the Test
Taking the NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test offers several benefits:
- Accurate diagnosis of Hirschsprung disease
- Informed decision-making regarding treatment options
- Identification of at-risk family members
- Guidance for future pregnancies
- Access to specialized pediatric care and support
Understanding Your Results
Results from the NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test will be provided in a clear and comprehensive report. A genetic counselor will help interpret the findings and discuss their implications for the patient and their family.
Test Name and Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Additional Information
Turnaround time for results is approximately 3 to 4 weeks. The sample type required for this test includes blood, extracted DNA, or one drop of blood on an FTA card. Prior to testing, a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected by Hirschsprung disease is recommended.
Book Your Test Today
We have branches across Kenya and offer a convenient home sample collection service. To book the NRG1 Gene Hirschsprung Disease NGS Genetic DNA Test, call or WhatsApp us at +254711564616. Ensure the health and well-being of your loved ones with timely genetic testing!