Short Description

NGS genetic DNA test detecets for variant and mutation detection in FARS2 gene for Combined oxidative phosphorylation deficiency type 14

PreTest Information

Clinical History of Patient who is going for FARS2 Gene Combined oxidative phosphorylation deficiency type 14 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 14

Detail Description

FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA Test Cost

• Overview
• Symptoms
• Diagnosis
• Cost

Overview

FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 is a rare genetic disorder that affects the energy-producing centers of the body's cells. This condition is caused by mutations in the FARS2 gene, which provides instructions for making an enzyme called phenylalanyl-tRNA synthetase 2. This enzyme is essential for the production of proteins within mitochondria, the energy-producing structures in cells.

Individuals with FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 may experience a wide range of symptoms, including muscle weakness and wasting, developmental delay, and seizures. In severe cases, the condition can lead to respiratory failure and early death.

Symptoms

• Muscle weakness and wasting
• Developmental delay
• Seizures
• Difficulty breathing
• Respiratory failure

It's important to note that not all individuals with FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 will experience all of these symptoms. Some may have milder forms of the condition, while others may have more severe symptoms.

Diagnosis

FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 is diagnosed through genetic testing. Specifically, Next-Generation Sequencing (NGS) Genetic DNA testing can be used to identify mutations in the FARS2 gene. This type of testing analyzes a person's DNA to look for changes or mutations that may be causing their symptoms.

NGS Genetic DNA testing is a highly accurate and reliable method for diagnosing FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14. It can help doctors determine the underlying cause of a person's symptoms, which can guide treatment decisions and provide important information for family planning.

Cost

The cost of FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA testing is INR 20,000.

While this may seem expensive, it's important to remember that genetic testing can provide invaluable information about a person's health and the health of their family members. It can help doctors make more accurate diagnoses and provide more effective treatments, which can ultimately lead to better health outcomes.

If you're interested in learning more about FARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 14 NGS Genetic DNA testing or have questions about the cost, please contact DNA Labs India.