MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test sale cost 4400 AED
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MRPL44 Gene Combined oxidative phosphorylation deficiency type 16 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

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The MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 Genetic Test is a specialized diagnostic procedure available at DNA Labs UAE, designed to identify mutations in the MRPL44 gene. These mutations are associated with Combined Oxidative Phosphorylation Deficiency Type 16, a rare genetic disorder that affects mitochondrial function, leading to a wide array of clinical manifestations including developmental delay, muscle weakness, and metabolic abnormalities.

The test involves collecting a DNA sample from the patient, usually through a blood draw, which is then analyzed in the laboratory for the presence of specific genetic alterations in the MRPL44 gene that are known to cause the disorder. This genetic testing is crucial for the accurate diagnosis of the condition, allowing for appropriate management and treatment plans to be developed for affected individuals.

The cost of the MRPL44 Gene Combined Oxidative Phosphorylation Deficiency Type 16 Genetic Test at DNA Labs UAE is 4400 AED. This cost encompasses the full process of genetic analysis, from sample collection to the final report. Given the complexity of the disorder and the specialized nature of the test, this genetic testing is a valuable tool for families seeking answers to complex medical conditions related to mitochondrial function.

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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.

SKU: TEST-2240