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TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 Genetic Test Cost

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

-21%

The TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test is a specialized diagnostic tool available at DNA Labs UAE. This test specifically targets the TRMT5 gene, which has been linked to Combined Oxidative Phosphorylation Deficiency Type 26 (COXPD26) – a rare genetic disorder that affects mitochondrial function, leading to a wide array of clinical manifestations including neurodevelopmental delays, muscle weakness, and metabolic complications.

The test is designed to identify mutations in the TRMT5 gene, providing crucial information for the diagnosis, management, and treatment planning for affected individuals. By analyzing the patient’s DNA, the test can confirm or rule out the presence of genetic alterations responsible for COXPD26, offering families and healthcare providers valuable insights into the condition.

Conducted at DNA Labs UAE, a facility known for its state-of-the-art genetic testing services, this test is priced at 4400 AED. The cost reflects the comprehensive nature of the analysis, which involves sophisticated sequencing technologies and expert interpretation of the results. For families facing the challenges of rare genetic disorders, this test represents a critical step towards understanding their condition and exploring potential therapeutic strategies.

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TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test

Test Details:

The TRMT5 gene is responsible for encoding the tRNA (transfer RNA) methyltransferase 5 enzyme, which plays a role in modifying certain tRNAs in the mitochondria. Combined oxidative phosphorylation deficiency type 26 (COXPD26) is a rare genetic disorder characterized by a deficiency in oxidative phosphorylation, which is the process by which cells produce energy in the form of ATP.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a particular disorder. In the case of COXPD26, NGS genetic testing can be used to identify mutations or variations in the TRMT5 gene that may be causing the deficiency in oxidative phosphorylation.

Test Components and Price:

Test Name Components Price
TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 Genetic Test NGS Technology 4400.0 AED

Sample Condition:

Blood or Extracted DNA or One drop Blood on FTA Card

Report Delivery:

3 to 4 Weeks

Test Type:

Metabolic Disorders

Doctor:

General Physician

Test Department:

Genetics

Pre Test Information:

Clinical History of Patient who is going for TRMT5 Gene Combined Oxidative Phosphorylation Deficiency Type 26 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 26.

Test Process:

  1. Obtain a DNA sample, typically through a blood or saliva sample, from the individual being tested.
  2. Sequence the DNA using NGS technology to identify any variations or mutations in the TRMT5 gene.
  3. Analyze the results to diagnose COXPD26 and provide information about the specific genetic variant causing the condition.

Benefits of Genetic Testing:

  • Confirm a suspected diagnosis
  • Provide information about disease progression and prognosis
  • Inform treatment decisions

It is important to note that genetic testing may not always provide a definitive diagnosis or treatment options, as the relationship between genetic variants and disease can be complex. Genetic counseling is often recommended before and after genetic testing to help individuals understand the implications of the test results and make informed decisions.

Test Name TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 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 TRMT5 Gene Combined oxidative phosphorylation deficiency type 26 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 26
Test Details

The TRMT5 gene is responsible for encoding the tRNA (transfer RNA) methyltransferase 5 enzyme, which plays a role in modifying certain tRNAs in the mitochondria. Combined oxidative phosphorylation deficiency type 26 (COXPD26) is a rare genetic disorder characterized by a deficiency in oxidative phosphorylation, which is the process by which cells produce energy in the form of ATP.

NGS (Next-Generation Sequencing) genetic testing is a technique used to analyze multiple genes simultaneously to identify genetic variations or mutations that may be associated with a particular disorder. In the case of COXPD26, NGS genetic testing can be used to identify mutations or variations in the TRMT5 gene that may be causing the deficiency in oxidative phosphorylation.

The NGS genetic test for COXPD26 would involve obtaining a DNA sample, typically through a blood or saliva sample, from the individual being tested. The DNA would then be sequenced using NGS technology to identify any variations or mutations in the TRMT5 gene. These results can help diagnose COXPD26 and provide information about the specific genetic variant causing the condition.

Genetic testing can be useful in confirming a suspected diagnosis, providing information about disease progression and prognosis, and informing treatment decisions. However, it is important to note that genetic testing may not always provide a definitive diagnosis or treatment options, as the relationship between genetic variants and disease can be complex. Genetic counseling is often recommended before and after genetic testing to help individuals understand the implications of the test results and make informed decisions.