Short Description

NGS genetic DNA test detecets for variant and mutation detection in VARS2 gene for Combined oxidative phosphorylation deficiency type 20

PreTest Information

Clinical History of Patient who is going for VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 20

Detail Description

VARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 20 NGS Genetic DNA Test Cost INR 20,000 - Symptoms and Diagnosis

Combined oxidative phosphorylation deficiency (COXPD) is a rare disorder characterized by a defect in the production of energy in the cells. COXPD is caused by mutations in genes responsible for the production of enzymes involved in oxidative phosphorylation, which is the process of producing energy in the cells. One of the genes that are responsible for COXPD is the VARS2 gene.

The VARS2 gene provides instructions for the production of an enzyme called valyl-tRNA synthetase 2. This enzyme is involved in the production of energy in the cells by converting valine into a form that can be used by the mitochondria to produce ATP, which is the primary source of energy for the cells.

A mutation in the VARS2 gene can lead to a decrease in the production of valyl-tRNA synthetase 2, which can result in COXPD type 20. COXPD type 20 is a rare type of COXPD that is characterized by muscle weakness, developmental delay, seizures, and other neurological symptoms.

Symptoms of COXPD Type 20

The symptoms of COXPD type 20 can vary from person to person and can range from mild to severe. Some common symptoms of COXPD type 20 include:

• Muscle weakness
• Developmental delay
• Seizures
• Intellectual disability
• Abnormal muscle tone
• Difficulty swallowing
• Respiratory problems
• Cardiac abnormalities

Diagnosis of COXPD Type 20

COXPD type 20 can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing can be used to identify mutations in the VARS2 gene. This type of testing can detect mutations in the gene with a high degree of accuracy and can help to confirm a diagnosis of COXPD type 20.

Cost of VARS2 Gene COXPD Type 20 NGS Genetic DNA Test

The cost of the VARS2 gene COXPD type 20 NGS genetic DNA test can vary depending on the laboratory that performs the test. In India, the cost of the test is typically around INR 20,000. It is important to note that this cost may vary depending on the location and the laboratory that performs the test.

Conclusion

COXPD type 20 is a rare disorder that is caused by mutations in the VARS2 gene. This disorder can cause a range of symptoms, including muscle weakness, developmental delay, seizures, and other neurological symptoms. NGS genetic DNA testing can be used to diagnose COXPD type 20 with a high degree of accuracy. The cost of the VARS2 gene COXPD type 20 NGS genetic DNA test in India is typically around INR 20,000.

At DNA Labs India, we offer NGS genetic DNA testing for COXPD type 20 and other genetic disorders. Our testing is performed using state-of-the-art technology and is backed by a team of experienced geneticists and genetic counselors. 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 VARS2 Gene Combined oxidative phosphorylation deficiency type 20 NGS Genetic DNA Test