CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-negative Genetic Test
At DNA Labs UAE, we offer the CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-negative Genetic Test at a cost of AED 4400.0. This test is used to diagnose and identify mutations in the CYBA gene associated with granulomatous disease.
Test Details
CYBA gene granulomatous disease is a rare genetic disorder characterized by chronic granulomatous disease (CGD) caused by mutations in the CYBA gene. CGD is an immune system disorder that affects the ability of white blood cells to effectively kill certain bacteria and fungi.
The CYBA gene provides instructions for producing a protein called cytochrome b-245 alpha chain, which is a component of an enzyme complex called NADPH oxidase. This enzyme complex plays a crucial role in the immune system’s defense against infections by producing reactive oxygen species (ROS) that help destroy invading microorganisms.
Mutations in the CYBA gene result in a non-functional or absent cytochrome b-245 alpha chain, leading to a defective NADPH oxidase complex. This impairment prevents white blood cells from producing sufficient ROS, compromising their ability to effectively kill bacteria and fungi.
CYBA gene granulomatous disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and do not typically show symptoms of the disease.
Test Components and Price
The CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-negative Genetic Test is performed using NGS (Next-Generation Sequencing) technology. The test analyzes multiple genes associated with various genetic disorders, including the CYBA gene, providing a comprehensive evaluation of an individual’s genetic makeup.
The cost of the test is AED 4400.0.
Sample Condition and Report Delivery
The test requires a blood sample or extracted DNA. Alternatively, one drop of blood can be collected on an FTA card. The report will be delivered within 3 to 4 weeks.
Test Type and Doctor
The CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-negative Genetic Test falls under the category of Hematology tests. The test is conducted by a Hematologist.
Test Department and Pre Test Information
The test is conducted in the Genetics department. Before the test, it is important to provide the clinical history of the patient who is going for the CYBA Gene Granulomatous Disease Chronic Autosomal Recessive Cytochrome b-negative Genetic Test. A Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with the CYBA Gene Granulomatous Disease.
By identifying specific mutations in the CYBA gene through NGS genetic testing, healthcare professionals can confirm the diagnosis of CYBA gene granulomatous disease and provide appropriate medical management and genetic counseling to affected individuals and their families.
| Test Name | CYBA Gene Granulomatous disease chronic autosomal recessive cytochrome b-negative 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 | Hematology |
| Doctor | Hematologist |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with CYBA Gene Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative NGS Genetic DNA Test gene CYBA |
| Test Details |
CYBA gene granulomatous disease is a rare genetic disorder characterized by chronic granulomatous disease (CGD) caused by mutations in the CYBA gene. CGD is an immune system disorder that affects the ability of white blood cells to effectively kill certain bacteria and fungi. The CYBA gene provides instructions for producing a protein called cytochrome b-245 alpha chain, which is a component of an enzyme complex called NADPH oxidase. This enzyme complex plays a crucial role in the immune system’s defense against infections by producing reactive oxygen species (ROS) that help destroy invading microorganisms. Mutations in the CYBA gene result in a non-functional or absent cytochrome b-245 alpha chain, leading to a defective NADPH oxidase complex. This impairment prevents white blood cells from producing sufficient ROS, compromising their ability to effectively kill bacteria and fungi. CYBA gene granulomatous disease is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. Individuals who inherit only one copy of the mutated gene are carriers and do not typically show symptoms of the disease. NGS (Next-Generation Sequencing) genetic testing is a diagnostic tool used to identify mutations in genes associated with various genetic disorders, including CYBA gene granulomatous disease. This testing method allows for the simultaneous analysis of multiple genes, providing a comprehensive evaluation of an individual’s genetic makeup. By identifying specific mutations in the CYBA gene through NGS genetic testing, healthcare professionals can confirm the diagnosis of CYBA gene granulomatous disease and provide appropriate medical management and genetic counseling to affected individuals and their families. |
