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ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 Genetic Test Cost

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

-21%

The ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test is a sophisticated diagnostic tool available at DNA Labs UAE, designed to identify mutations in the ELAC2 gene, which are linked to Combined Oxidative Phosphorylation Deficiency 17 (COXPD17). This condition is a rare genetic disorder that affects mitochondrial function, leading to a wide range of symptoms including developmental delay, muscle weakness, and in some cases, more severe organ dysfunction. The test, priced at 4400 AED, involves collecting a DNA sample, usually through a blood draw or cheek swab, which is then analyzed for specific genetic alterations in the ELAC2 gene. This test is crucial for early diagnosis and management of the condition, allowing healthcare providers to tailor treatments that can significantly improve the quality of life for affected individuals. DNA Labs UAE is equipped with state-of-the-art technology and staffed by genetic experts, ensuring accurate and reliable test results.

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ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test

Test Name: ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 Genetic Test

Components: Blood or Extracted DNA or One drop Blood on FTA Card

Price: 4400.0 AED

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 ELAC2 Gene Combined Oxidative Phosphorylation Deficiency Type 17 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with Combined Oxidative Phosphorylation Deficiency Type 17.

Test Details

ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a genetic disorder that affects the function of the mitochondria, the powerhouses of the cell. This disorder is caused by mutations in the ELAC2 gene, which provides instructions for producing an enzyme called RNase Z. This enzyme is involved in the processing of RNA molecules, which are essential for the production of proteins.

A NGS (Next-Generation Sequencing) genetic test can be used to detect mutations in the ELAC2 gene. This type of test involves sequencing the DNA of an individual to identify any changes or variations in the gene sequence. NGS technology allows for the analysis of multiple genes simultaneously, making it a powerful tool for identifying genetic disorders.

By identifying mutations in the ELAC2 gene, a NGS genetic test can confirm a diagnosis of combined oxidative phosphorylation deficiency type 17. This information can be crucial for determining the appropriate treatment and management strategies for individuals with this disorder.

It is important to note that a NGS genetic test should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance.

Test Name ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 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 ELAC2 Gene Combined oxidative phosphorylation deficiency type 17 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 17
Test Details

ELAC2 gene combined oxidative phosphorylation deficiency type 17 is a genetic disorder that affects the function of the mitochondria, the powerhouses of the cell. This disorder is caused by mutations in the ELAC2 gene, which provides instructions for producing an enzyme called RNase Z. This enzyme is involved in the processing of RNA molecules, which are essential for the production of proteins.

A NGS (Next-Generation Sequencing) genetic test can be used to detect mutations in the ELAC2 gene. This type of test involves sequencing the DNA of an individual to identify any changes or variations in the gene sequence. NGS technology allows for the analysis of multiple genes simultaneously, making it a powerful tool for identifying genetic disorders.

By identifying mutations in the ELAC2 gene, a NGS genetic test can confirm a diagnosis of combined oxidative phosphorylation deficiency type 17. This information can be crucial for determining the appropriate treatment and management strategies for individuals with this disorder.

It is important to note that a NGS genetic test should be performed by a qualified healthcare professional or genetic counselor who can interpret the results and provide appropriate counseling and guidance.

SKU: TEST-2241