TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test
Introduction to the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test
The TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test is a specialized genetic test designed to identify mutations in the TMEM138 gene that are associated with Joubert syndrome, a neurological disorder characterized by developmental delays, ataxia, and distinctive brain imaging findings. Understanding your genetic makeup is crucial for effective diagnosis and management of this condition.
What the Test Measures
This genetic test utilizes Next Generation Sequencing (NGS) technology to analyze the TMEM138 gene. It detects specific mutations that can lead to Joubert syndrome, providing vital information that can aid in diagnosis and treatment planning.
Who Should Consider This Test?
Individuals who may benefit from the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test include:
- Those with symptoms such as developmental delays, coordination problems, and abnormal eye movements.
- Individuals with a family history of Joubert syndrome or related neurological disorders.
- Patients referred by a neurologist or genetic counselor for further evaluation.
Benefits of Taking the Test
The benefits of the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test include:
- Accurate diagnosis of Joubert syndrome, leading to better management and treatment options.
- Informed family planning through genetic counseling.
- Access to targeted therapies and support based on genetic findings.
Understanding Your Results
Results from the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test typically take 3 to 4 weeks. A genetic counselor or neurologist will assist you in interpreting the results, discussing their implications for your health and any necessary follow-up actions.
Test Name and Pricing
Test Name | TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test |
---|---|
Discount Price | 40,000 KSh |
Regular Price | 56,000 KSh |
Branches and Booking Information
We have branches across Kenya, including Nairobi, Mombasa, and Kisumu, making it easy for you to access our services. To book the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test, please call or WhatsApp us at +254711564616. We also offer home sample collection services for your convenience.
Pre-Test Instructions
Before undergoing the TMEM138 Gene Joubert Syndrome Type 16 NGS Genetic DNA Test, it is essential to have a clinical history of the patient and a genetic counseling session to draw a pedigree chart of family members affected with this syndrome.
Take the first step towards understanding your genetic health today by booking your test!