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MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 3,200 د.إ.

-43%

The MRPL3 gene is associated with Combined Oxidative Phosphorylation Deficiency type 9 (COXPD9), a rare genetic condition that affects the body’s energy production. This condition is part of a group of disorders that impair the oxidative phosphorylation system, which is crucial for generating energy within cells. Mutations in the MRPL3 gene disrupt the normal function of mitochondria, the energy-producing organelles in cells, leading to a wide range of symptoms that can include developmental delay, muscle weakness, heart problems, and other systemic issues.

To diagnose COXPD9, a genetic test targeting the MRPL3 gene can be performed. This test involves analyzing the DNA to identify mutations in the MRPL3 gene that are responsible for the condition. DNA Labs UAE offers this specialized genetic test to help diagnose individuals suspected of having COXPD9.

The cost of the MRPL3 Gene Combined Oxidative Phosphorylation Deficiency type 9 Genetic Test at DNA Labs UAE is 3200 AED. This test is a critical step in confirming the diagnosis, which can then guide treatment options and management strategies for affected individuals. Early diagnosis through genetic testing can significantly improve the quality of life for patients by enabling timely intervention and support.

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MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 Genetic Test

Cost: 3200.0 AED

Test Components:

  • 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 MRPL3 Gene Combined Oxidative Phosphorylation Deficiency Type 9 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 9.

Test Details:

The MRPL3 gene is responsible for providing instructions for making a protein called mitochondrial ribosomal protein L3. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria. Combined oxidative phosphorylation deficiency type 9 (COXPD9) is a genetic disorder characterized by a defect in the mitochondrial respiratory chain, specifically affecting oxidative phosphorylation. This leads to a decrease in the production of ATP, the main energy source for cells.

NGS genetic testing refers to Next-Generation Sequencing, which is a high-throughput method used to sequence the entire coding region of a gene or multiple genes simultaneously. It allows for the detection of genetic variations, such as mutations or deletions, that may be responsible for certain genetic disorders. Therefore, an MRPL3 gene NGS genetic test would involve sequencing the MRPL3 gene to identify any variations or mutations that may be associated with COXPD9. This can help in the diagnosis and management of the condition.

Test Name MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 Genetic Test
Components
Price 3200.0 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 MRPL3 Gene Combined oxidative phosphorylation deficiency type 9 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 9
Test Details

The MRPL3 gene is responsible for providing instructions for making a protein called mitochondrial ribosomal protein L3. This protein is a component of the mitochondrial ribosome, which is responsible for protein synthesis within the mitochondria.

Combined oxidative phosphorylation deficiency type 9 (COXPD9) is a genetic disorder characterized by a defect in the mitochondrial respiratory chain, specifically affecting oxidative phosphorylation. This leads to a decrease in the production of ATP, the main energy source for cells.

NGS genetic testing refers to Next-Generation Sequencing, which is a high-throughput method used to sequence the entire coding region of a gene or multiple genes simultaneously. It allows for the detection of genetic variations, such as mutations or deletions, that may be responsible for certain genetic disorders.

Therefore, an MRPL3 gene NGS genetic test would involve sequencing the MRPL3 gene to identify any variations or mutations that may be associated with COXPD9. This can help in the diagnosis and management of the condition.

SKU: TEST-2258