TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test
Introduction
The TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test is a cutting-edge diagnostic tool that utilizes Next-Generation Sequencing (NGS) technology to analyze the TMEM216 gene. This test is crucial for identifying genetic mutations that lead to Joubert syndrome type 2, a rare neurological disorder characterized by developmental delays, ataxia, and distinctive eye movement abnormalities. Understanding the genetic underpinnings of this condition is vital for effective diagnosis and management.
What the Test Measures
This genetic test specifically measures alterations in the TMEM216 gene, which is implicated in Joubert syndrome type 2. By detecting these mutations, the test provides valuable insights into the genetic causes of the disorder.
Who Should Consider This Test?
Individuals exhibiting symptoms such as:
- Developmental delays
- Ataxia (lack of voluntary coordination of muscle movements)
- Abnormal eye movements
- Impaired cognitive function
are encouraged to consider this test. Additionally, those with a family history of Joubert syndrome type 2 should also seek testing, as genetic predisposition plays a significant role in this condition.
Benefits of Taking the Test
- Accurate diagnosis of Joubert syndrome type 2.
- Informed decision-making regarding treatment and management options.
- Genetic counseling for affected families, helping them understand inheritance patterns.
- Early intervention strategies based on genetic findings.
Understanding Your Results
Results from the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test will typically be available within 3 to 4 weeks. A genetic counselor or healthcare provider will discuss your results with you, helping you understand their implications and guiding you on the next steps in your healthcare journey.
Test Pricing
| Test Name | Discount Price (KSh) | Regular Price (KSh) |
|---|---|---|
| TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test | 40,000 | 56,000 |
Branches and Booking
We have branches across major cities in Kenya, ensuring accessibility for all patients. Additionally, we offer a home sample collection service for your convenience. To book the TMEM216 Gene Joubert Syndrome Type 2 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616.
