MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test
Welcome to DNA Labs UAE, where we offer the MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test. This test is designed to diagnose and identify mutations in the MRPL44 gene, which is responsible for providing instructions for the production of a protein called mitochondrial ribosomal protein L44 (MRPL44). Mutations in this gene can lead to Combined oxidative phosphorylation deficiency type 16 (COXPD16), a rare genetic disorder that affects the function of the mitochondria.
Symptoms and Diagnosis
COXPD16 affects the energy production in the mitochondria, which can result in various symptoms and affect different organs and tissues in the body. Common symptoms may include muscle weakness, developmental delays, intellectual disabilities, and problems with the heart, liver, and kidneys. To diagnose COXPD16, we use Next-Generation Sequencing (NGS) technology, which allows us to analyze multiple genes simultaneously and identify mutations in the MRPL44 gene.
Test Details
The MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test is a metabolic disorders test that focuses on genetics. The test requires a blood sample or extracted DNA, or one drop of blood on an FTA Card. The test is conducted using NGS technology, which provides accurate and detailed results. The test is performed in our Genetics department by our team of qualified professionals.
Test Cost and Report Delivery
The cost of the MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test is AED 4400.0. The report delivery time is approximately 3 to 4 weeks from the date of sample submission.
Pre-Test Information
Before undergoing the MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by COXPD16. This information helps our healthcare professionals understand the genetic background and make accurate diagnoses.
Importance of Genetic Testing
Genetic testing is a crucial tool in understanding genetic disorders such as COXPD16. By identifying the specific mutations in the MRPL44 gene, NGS genetic testing helps healthcare professionals determine the underlying cause of COXPD16 in an individual. This information can be valuable for genetic counseling, family planning, and guiding future treatment decisions. However, it is important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics.
At DNA Labs UAE, we are dedicated to providing accurate and personalized genetic testing services. If you suspect COXPD16 or have any concerns about your genetic health, we recommend consulting with a general physician or a genetics specialist.
| Test Name | MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 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 | Metabolic Disorders |
| Doctor | General Physician |
| Test Department: | Genetics |
| Pre Test Information | Clinical History of Patient who is going for MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 16 |
| Test Details |
The MRPL44 gene is responsible for providing instructions for the production of a protein called mitochondrial ribosomal protein L44 (MRPL44). This protein is found in the mitochondria, which are the energy-producing centers of cells. Combined oxidative phosphorylation deficiency type 16 (COXPD16) is a rare genetic disorder caused by mutations in the MRPL44 gene. This condition affects the function of the mitochondria, leading to a decrease in energy production and affecting various organs and tissues in the body. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced technology to sequence and analyze multiple genes simultaneously. In the case of COXPD16, NGS genetic testing can be used to identify mutations in the MRPL44 gene and confirm a diagnosis. By identifying the specific mutations in the MRPL44 gene, NGS genetic testing can help healthcare professionals understand the underlying cause of COXPD16 in an individual. This information can be useful for genetic counseling, family planning, and potentially guiding treatment decisions in the future. It’s important to note that genetic testing should always be performed and interpreted by qualified healthcare professionals who specialize in genetics, as they can provide accurate and personalized information based on the specific case. |
