ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test
Introduction
The ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test is a cutting-edge diagnostic tool designed to identify mutations in the ITPR1 gene, which are responsible for Gillespie syndrome. This rare genetic disorder is characterized by developmental delays and specific ophthalmological issues. By utilizing Next Generation Sequencing (NGS) technology, this test provides a comprehensive analysis of the genetic material, offering valuable insights into the genetic basis of the condition.
What the Test Measures
This test specifically detects mutations in the ITPR1 gene, which can lead to Gillespie syndrome. By analyzing the genetic code, healthcare providers can determine the likelihood of developing the syndrome and assess any associated risks.
Who Should Consider This Test
Individuals who may benefit from the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test include:
- Those with a family history of Gillespie syndrome or related ophthalmological disorders.
- Patients experiencing unexplained developmental delays.
- Individuals with symptoms such as ataxia or abnormal eye movements.
Benefits of Taking the Test
Undergoing the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test offers several advantages:
- Early diagnosis of Gillespie syndrome can lead to timely interventions.
- It provides a clearer understanding of the genetic risks for family members.
- Empowers patients and families with knowledge for better health management.
Understanding Your Results
After the test, results will be interpreted by a qualified genetic counselor or specialist. It is essential to understand that:
- A positive result indicates the presence of mutations in the ITPR1 gene.
- A negative result does not rule out the possibility of Gillespie syndrome if symptoms are present.
- Results will be discussed in detail, providing guidance on potential next steps.
Test Pricing
Price Type | Amount (KSh) |
---|---|
Discount Price | 40,000 |
Regular Price | 56,000 |
Branches and Booking
We have branches across Kenya, making it convenient for you to access our services. Our skilled team is also available for home sample collection services. To book the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test, please contact us at +254711564616 or visit our nearest location.
Don’t wait to get the answers you need about your health. Book your test today!