Short Description

NGS genetic DNA test detecets for variant and mutation detection in TARS2 gene for Combined oxidative phosphorylation deficiency type 21

PreTest Information

Clinical History of Patient who is going for TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 21

Detail Description

TARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 21 NGS Genetic DNA Test

Combined oxidative phosphorylation deficiency (COXPD) is a rare genetic disorder that affects the energy-producing process of the human body. It is caused by mutations in various genes involved in the oxidative phosphorylation pathway. One of such genes is the TARS2 gene, which encodes the threonyl-tRNA synthetase 2 protein.

The TARS2 gene COXPD type 21 is a mitochondrial disease that affects the nervous system, muscles, and other organs. It is an autosomal recessive disorder, which means that a person needs to inherit two copies of the mutated gene - one from each parent - to develop the disease.

Symptoms of TARS2 Gene COXPD Type 21

The symptoms of TARS2 gene COXPD type 21 can vary widely from person to person, depending on the severity of the disease. Some common symptoms include:

• Weakness and fatigue
• Developmental delay and intellectual disability
• Loss of muscle coordination (ataxia)
• Difficulty swallowing (dysphagia)
• Respiratory problems
• Visual and hearing impairment
• Seizures

Diagnosis of TARS2 Gene COXPD Type 21

The diagnosis of TARS2 gene COXPD type 21 involves a thorough evaluation of a patient's medical history, physical examination, and laboratory tests. The laboratory tests may include:

• Blood tests to check for abnormal levels of lactate, pyruvate, and other metabolites
• Electromyography (EMG) and nerve conduction studies to evaluate muscle and nerve function
• Brain imaging tests, such as magnetic resonance imaging (MRI) and computed tomography (CT) scans, to detect any abnormalities
• Genetic testing to identify mutations in the TARS2 gene

NGS Genetic DNA Test for TARS2 Gene COXPD Type 21

The Next-Generation Sequencing (NGS) genetic DNA test is a powerful tool for diagnosing genetic disorders like TARS2 gene COXPD type 21. It involves sequencing the entire TARS2 gene to detect any mutations that may be responsible for the disease.

The NGS genetic DNA test for TARS2 gene COXPD type 21 is a relatively new test, but it is becoming increasingly popular due to its accuracy and speed. The test can be performed on a blood sample or a tissue sample, and the results are usually available within a few weeks.

Cost of NGS Genetic DNA Test for TARS2 Gene COXPD Type 21

The cost of the NGS genetic DNA test for TARS2 gene COXPD type 21 can vary depending on the laboratory that performs the test. However, the average cost of the test in India is around INR 20,000.

Conclusion

TARS2 gene COXPD type 21 is a rare genetic disorder that can cause a range of symptoms, including weakness, ataxia, dysphagia, and seizures. The NGS genetic DNA test is an accurate and reliable tool for diagnosing the disease, and it is becoming increasingly popular due to its speed and accuracy. If you or someone you know is experiencing symptoms of TARS2 gene COXPD type 21, it is important to seek medical attention and consider genetic testing.

At DNA Labs India, we offer a wide range of genetic testing services, including the NGS genetic DNA test for TARS2 gene COXPD type 21. Our team of expert geneticists and counselors are dedicated to providing the most accurate and reliable results, along with personalized guidance and support. Contact us today to learn more about our genetic testing services.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for TARS2 Gene Combined oxidative phosphorylation deficiency type 21 NGS Genetic DNA Test