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MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 Genetic Test Cost

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

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The MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE, designed to identify mutations in the MRPS22 gene. These mutations are responsible for Combined Oxidative Phosphorylation Deficiency Type 5 (COXPD5), a rare genetic disorder that affects mitochondrial function, leading to a wide range of symptoms including developmental delay, muscle weakness, and metabolic abnormalities. Mitochondria are the powerhouses of the cell, and their dysfunction can have widespread effects on the body’s energy production.

This test is crucial for the accurate diagnosis of COXPD5, allowing for a better understanding of the condition and facilitating tailored treatment and management plans for affected individuals. The procedure involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then analyzed in the laboratory for the presence of specific mutations in the MRPS22 gene.

The cost of the MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test at DNA Labs UAE is 4400 AED. This investment includes the comprehensive analysis and detailed reporting necessary to understand the genetic basis of the condition, providing essential information for patients, families, and healthcare providers in managing the disorder.

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MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test

At DNA Labs UAE, we offer the MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test. This test is designed to detect mutations in the MRPS22 gene, which is associated with Combined Oxidative Phosphorylation Deficiency Type 5 (COXPD5). COXPD5 is a rare genetic disorder characterized by impaired energy production in cells.

Test Details

The MRPS22 gene plays a crucial role in the assembly of mitochondrial ribosomes. Mutations in this gene can disrupt the normal functioning of mitochondria, leading to energy production deficiencies. Our NGS (Next-Generation Sequencing) Technology allows us to analyze multiple genes simultaneously and identify any genetic variations or mutations in the MRPS22 gene.

Symptoms and Diagnosis

COXPD5 can present with various symptoms, including muscle weakness, developmental delays, intellectual disability, and respiratory problems. If you or your loved one is experiencing these symptoms, it is essential to consult a General Physician who can refer you for the MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test.

Prior to the test, a Genetic Counselling session will be conducted to gather clinical history and draw a pedigree chart of family members affected by COXPD5. This information helps in understanding the inheritance pattern and assessing the risk of passing on the genetic disorder to future generations.

Test Cost and Components

The MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test is priced at 4400.0 AED. The test can be performed using blood samples, extracted DNA, or even a single drop of blood on an FTA card.

Report Delivery and Test Department

After the sample is collected, the report will be delivered within 3 to 4 weeks. The test is conducted in our Genetics department, where our experienced team utilizes NGS Technology to analyze the MRPS22 gene and provide accurate results.

Benefits of the Test

The MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 Genetic Test can help in:

  • Diagnosing COXPD5
  • Determining the specific genetic mutation causing the disorder
  • Providing information for genetic counseling and family planning
  • Understanding the underlying molecular mechanisms of the disease
  • Potentially guiding the development of targeted therapies in the future

By undergoing this test, you can gain valuable insights into your genetic makeup and make informed decisions about your health and family planning.

Test Name MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 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 MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 5
Test Details

The MRPS22 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 5 (COXPD5), which is a rare genetic disorder characterized by impaired energy production in cells. COXPD5 is caused by mutations in the MRPS22 gene, which encodes a protein involved in the assembly of mitochondrial ribosomes.

NGS (Next-Generation Sequencing) Genetic Testing is a technique used to analyze multiple genes simultaneously to identify genetic variations or mutations. In the case of COXPD5, NGS Genetic Testing can be used to sequence the MRPS22 gene and identify any mutations or variations that may be present.

NGS Genetic Testing for COXPD5 can help in diagnosing the condition, determining the specific genetic mutation causing the disorder, and providing information for genetic counseling and family planning. It can also aid in understanding the underlying molecular mechanisms of the disease and potentially guide the development of targeted therapies in the future.

SKU: TEST-2254