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, ataxia, and specific eye abnormalities. Understanding your genetic makeup is crucial for early diagnosis and management of this condition.
What the Test Measures
This test employs Next Generation Sequencing (NGS) technology to analyze the ITPR1 gene. By detecting mutations, it helps in confirming a diagnosis of Gillespie syndrome, enabling healthcare providers to offer tailored treatment plans.
Who Should Consider This Test
Individuals with symptoms such as:
- Developmental delays
- Coordination issues (ataxia)
- Eye abnormalities
Family history of Gillespie syndrome or related disorders may also warrant consideration of this test. Consulting with a genetic counselor can provide further guidance.
Benefits of Taking the Test
- Early diagnosis and intervention
- Informed family planning
- Access to specialized care and resources
- Understanding the genetic basis of symptoms
Understanding Your Results
Results from the ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test are typically available within 3 to 4 weeks. A genetic counselor will assist you in interpreting the results, discussing the implications for you and your family.
Pricing Information
Test Name | Discount Price (NGN) | Regular Price (NGN) |
---|---|---|
ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test | 400,000 | 560,000 |
Book Your Test Today!
To schedule your ITPR1 Gene Gillespie Syndrome NGS Genetic DNA Test, please call or WhatsApp us at +2348077798758. Our team at DNA Labs Nigeria is here to assist you in understanding your genetic health and providing the support you need.
Pre-Test Instructions
It is essential to provide a clinical history prior to testing. A genetic counseling session is recommended to create a pedigree chart of family members affected by the ITPR1 gene to ensure comprehensive analysis and support.
Sample Type
The sample required for this test can be:
- Blood
- Extracted DNA
- One drop of blood on FTA Card