INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test
Introduction to the Test
The INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the INPP5E gene, which are linked to Joubert syndrome. This condition is characterized by neurological disorders that can lead to a range of developmental issues. Understanding the genetic basis of this syndrome is crucial for accurate diagnosis and management.
What the Test Measures
This test detects specific mutations in the INPP5E gene using Next Generation Sequencing (NGS) technology. By analyzing the genetic material, healthcare providers can ascertain whether an individual has inherited the genetic changes associated with Joubert syndrome.
Who Should Consider This Test
Individuals exhibiting symptoms of neurological disorders, such as:
- Developmental delays
- Coordination and balance difficulties
- Eye movement abnormalities
Additionally, those with a family history of Joubert syndrome or related neurological disorders should consider this test to understand their risk and make informed decisions regarding their health.
Benefits of Taking the Test
- Provides a definitive diagnosis for individuals with symptoms of Joubert syndrome.
- Helps in understanding familial health risks and guiding future family planning.
- Facilitates targeted interventions and management strategies for affected individuals.
Understanding Your Results
Results from the INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test can take approximately 3 to 4 weeks. A genetic counseling session is recommended to help interpret the results, discuss potential implications, and create a pedigree chart of family members affected by the syndrome.
Test Pricing
Test Name | Discount Price | Regular Price |
---|---|---|
INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test | 40,000 KSh | 56,000 KSh |
Book Your Test Today
We have branches across Kenya, including major cities like Nairobi, Mombasa, and Kisumu, and offer a convenient home sample collection service. To schedule your INPP5E Gene Joubert Syndrome Type 1 NGS Genetic DNA Test, please call or WhatsApp us at +254746849631. Take the first step towards understanding your genetic health today!