LONP1 Gene CODAS Syndrome Genetic Test
Welcome to DNA Labs UAE, where we offer the LONP1 Gene CODAS Syndrome Genetic Test. This test is designed to diagnose and identify genetic mutations associated with CODAS syndrome, a rare genetic disorder caused by mutations in the LONP1 gene.
Test Details
The LONP1 gene is responsible for producing an enzyme called mitochondrial Lon protease. This enzyme plays a crucial role in maintaining and controlling the quality of mitochondrial proteins. CODAS syndrome, also known as Combined Oxidative Phosphorylation Deficiency 24, is characterized by a variety of symptoms including developmental delay, intellectual disability, muscle weakness, hearing loss, and heart abnormalities.
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: Dysmorphology
- Doctor: Pediatrics
- Test Department: Genetics
Pre-Test Information
Prior to undergoing the LONP1 Gene CODAS Syndrome Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to create a pedigree chart of family members affected by CODAS syndrome. This will help in identifying any potential genetic links and provide a more comprehensive analysis of the patient’s genetic makeup.
NGS Technology
The LONP1 Gene CODAS Syndrome Genetic Test utilizes Next-Generation Sequencing (NGS) technology. NGS is a high-throughput sequencing method that allows for the simultaneous analysis of multiple genes. By using this advanced technology, our test can detect various genetic mutations or variations associated with CODAS syndrome or other mitochondrial disorders.
Benefits of the Test
The LONP1 Gene CODAS Syndrome Genetic Test can confirm a diagnosis, provide information about the prognosis, and guide appropriate treatment options for individuals suspected of having CODAS syndrome. By identifying specific genetic mutations or variations, this test offers a more comprehensive understanding of the patient’s condition and helps healthcare professionals develop personalized treatment plans.
At DNA Labs UAE, we are committed to providing accurate and reliable genetic testing services. Our LONP1 Gene CODAS Syndrome Genetic Test is conducted by our experienced team of geneticists and is designed to offer valuable insights into the diagnosis and management of CODAS syndrome. Contact us today to learn more about this test and how it can benefit you or your loved ones.
Test Name | LONP1 Gene CODAS 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for LONP1 Gene CODAS syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with LONP1 Gene CODAS syndrome NGS Genetic DNA Test gene LONP1 |
Test Details |
The LONP1 gene is a gene that provides instructions for making an enzyme called mitochondrial Lon protease. This enzyme is involved in the maintenance and quality control of mitochondrial proteins. CODAS syndrome, also known as Combined Oxidative Phosphorylation Deficiency 24, is a rare genetic disorder caused by mutations in the LONP1 gene. It is characterized by a wide range of symptoms including developmental delay, intellectual disability, muscle weakness, hearing loss, and heart abnormalities. NGS (Next-Generation Sequencing) Genetic Test is a type of genetic test that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of various genetic mutations or variations in a single test, providing a more comprehensive analysis of an individual’s genetic makeup. Therefore, an NGS Genetic Test for the LONP1 gene would involve sequencing the gene to identify any mutations or variations that may be associated with CODAS syndrome or other mitochondrial disorders. This test can help in confirming a diagnosis, providing information about the prognosis, and guiding appropriate treatment options for individuals suspected of having CODAS syndrome. |