TAZ Gene Barth Syndrome Genetic Test
Introduction
Welcome to DNA Labs UAE, where we offer the TAZ Gene Barth Syndrome Genetic Test. This test aims to diagnose Barth syndrome, a rare genetic disorder primarily affecting males. By analyzing the TAZ gene through NGS technology, we can identify genetic variations or mutations that may be responsible for this condition.
Test Details
The TAZ gene is associated with Barth syndrome, which is characterized by cardiomyopathy, muscle weakness, growth delay, and low levels of certain white blood cells. Our NGS genetic testing technique allows us to analyze multiple genes simultaneously, providing a comprehensive assessment of genetic variations.
Test Components and Price
The TAZ Gene Barth Syndrome Genetic Test costs AED 4400.0. The test can be conducted using blood samples, extracted DNA, or a single drop of blood on an FTA card.
Report Delivery
Once the sample is collected, the report will be delivered within 3 to 4 weeks.
Test Method
Our TAZ Gene Barth Syndrome Genetic Test utilizes NGS technology to analyze the TAZ gene for any variations or mutations.
Test Type
The test focuses on cardiovascular and pneumology disorders, making it especially relevant for individuals experiencing symptoms related to these areas.
Doctor and Test Department
The TAZ Gene Barth Syndrome Genetic Test is conducted under the supervision of a cardiologist and falls under the genetics department.
Pre Test Information
Prior to the test, it is essential to provide the clinical history of the patient who will be undergoing the TAZ Gene Barth Syndrome NGS Genetic DNA Test. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected by the TAZ Gene Barth Syndrome.
Understanding Barth Syndrome
Barth syndrome is a rare genetic disorder primarily affecting males. It is characterized by cardiomyopathy, muscle weakness, growth delay, and low levels of certain white blood cells. The TAZ gene, responsible for producing the tafazzin protein, is associated with this syndrome. Tafazzin plays a crucial role in the production of cardiolipin, a type of fat molecule found in the inner mitochondrial membrane. Mutations in the TAZ gene can lead to abnormal cardiolipin levels and mitochondrial dysfunction, contributing to the symptoms and complications associated with Barth syndrome.
Benefits of NGS Genetic Testing for Barth Syndrome
NGS genetic testing for Barth syndrome offers several advantages. It helps with accurate diagnosis, provides information about the specific genetic cause of the condition, and guides treatment decisions. Additionally, it can be useful for identifying carriers of the TAZ gene mutation in families with a history of Barth syndrome.
Importance of Qualified Healthcare Professionals
It is crucial to note that genetic testing should be performed and interpreted by qualified healthcare professionals specializing in genetics. They can provide appropriate counseling and support to individuals and families undergoing genetic testing, ensuring accurate and reliable results.
At DNA Labs UAE, we prioritize accuracy, reliability, and patient care. Our TAZ Gene Barth Syndrome Genetic Test offers valuable insights into the genetic causes of Barth syndrome, helping individuals and families make informed decisions regarding treatment and management. Contact us today to schedule your test or to learn more about our services.
Test Name | TAZ Gene Barth syndrome Genetic Test |
---|---|
Components | |
Price | 4400.0 AED |
Sample Condition | Blood or Extracted DNA or One drop Blood on FTA Card |
Report Delivery | 3 to 4 Weeks |
Method | NGS Technology |
Test type | Cardiovascular Pneumology Disorders |
Doctor | Cardiologist |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for TAZ Gene Barth syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with TAZ Gene Barth syndrome NGS Genetic DNA Test gene TAZ |
Test Details |
The TAZ gene is associated with Barth syndrome, a rare genetic disorder that primarily affects males. Barth syndrome is characterized by cardiomyopathy (weakening of the heart muscle), muscle weakness, growth delay, and low levels of certain white blood cells (neutropenia). NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously and detect genetic variations or mutations that may be responsible for a particular disorder. In the case of Barth syndrome, NGS genetic testing can identify variations or mutations in the TAZ gene that may be causing the condition. The TAZ gene provides instructions for making a protein called tafazzin, which is involved in the production of cardiolipin, a type of fat molecule found in the inner mitochondrial membrane. Mutations in the TAZ gene can lead to a deficiency or dysfunction of tafazzin, resulting in abnormal cardiolipin levels and mitochondrial dysfunction. This disruption in mitochondrial function contributes to the symptoms and complications associated with Barth syndrome. NGS genetic testing for Barth syndrome can help with diagnosis, provide information about the specific genetic cause of the condition, and guide treatment decisions. It may also be useful for identifying carriers of the TAZ gene mutation in families with a history of Barth syndrome. It is important to note that genetic testing should be performed and interpreted by qualified healthcare professionals who specialize in genetics. They can provide appropriate counseling and support to individuals and families undergoing genetic testing. |