MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 Genetic Test sale cost 4400 AED
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MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 Genetic Test Cost

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

-21%

The MRPS16 gene plays a critical role in the mitochondrial ribosome, crucial for protein synthesis within mitochondria, which are the powerhouses of the cell. Mutations in the MRPS16 gene can lead to combined oxidative phosphorylation deficiency type 2 (COXPD2), a rare genetic disorder that affects multiple systems in the body. This condition is characterized by severe lactic acidosis, developmental delay, and failure to thrive, among other symptoms.

To diagnose this condition, a genetic test targeting the MRPS16 gene can be conducted. This test involves analyzing the DNA to identify mutations in the MRPS16 gene that are known to cause COXPD2. Early diagnosis through genetic testing is crucial for the management of the disease, as it can guide treatment options and help in understanding the prognosis.

In the United Arab Emirates, DNA Labs UAE offers this specialized genetic test. The cost of the MRPS16 gene test is 4400 AED. Conducted in a state-of-the-art facility, DNA Labs UAE ensures accurate and reliable testing, adhering to the highest standards of genetic analysis. This test is essential for families with a history of mitochondrial disorders or for individuals showing symptoms suggestive of COXPD2, providing them with crucial information for managing the condition.

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MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test

Welcome to DNA Labs UAE, where we offer the MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test. This test is used to diagnose and manage individuals suspected of having COXPD2, a rare genetic disorder characterized by a defect in the mitochondria’s ability to produce energy.

Test Details

The MRPS16 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 2 (COXPD2). Our NGS (Next-Generation Sequencing) Genetic Test utilizes high-throughput sequencing technologies to analyze multiple genes simultaneously. This allows for the detection of genetic variations, including mutations, deletions, or duplications, in a more efficient and cost-effective manner compared to traditional Sanger sequencing.

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

Prior to undergoing the MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with COXPD2. This information will help in the accurate interpretation of the test results.

Conclusion

The MRPS16 Gene Combined Oxidative Phosphorylation Deficiency Type 2 Genetic Test at DNA Labs UAE offers an efficient and cost-effective method for diagnosing and managing COXPD2. By identifying the underlying genetic cause of the disorder, this test can provide valuable insights for personalized treatment and care.

Test Name MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 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 MRPS16 Gene Combined oxidative phosphorylation deficiency type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 2
Test Details

The MRPS16 gene is associated with Combined Oxidative Phosphorylation Deficiency Type 2 (COXPD2), which is a rare genetic disorder characterized by a defect in the mitochondria’s ability to produce energy.

NGS (Next-Generation Sequencing) Genetic Test is a type of genetic testing that uses high-throughput sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of genetic variations, including mutations, deletions, or duplications, in a more efficient and cost-effective manner compared to traditional Sanger sequencing.

Therefore, an NGS Genetic Test for the MRPS16 gene would involve sequencing the specific region of the gene to identify any genetic variations that may be associated with COXPD2. This test can help in the diagnosis and management of individuals suspected of having COXPD2 by identifying the underlying genetic cause of the disorder.

SKU: TEST-2244