Short Description

NGS genetic DNA test detecets for variant and mutation detection in MARS2 gene for Combined oxidative phosphorylation deficiency type 25

PreTest Information

Clinical History of Patient who is going for MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 25

Detail Description

MARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 25 NGS Genetic DNA Test

Combined oxidative phosphorylation deficiency (COXPD) refers to a group of mitochondrial disorders that affect the energy production in cells. MARS2 gene is one such gene that plays a crucial role in the production of energy in the body. Mutations in the MARS2 gene can lead to COXPD type 25.

Symptoms of COXPD type 25

The symptoms of COXPD type 25 vary widely and can affect different parts of the body. Some common symptoms include:

• Weakness and fatigue
• Myopathy (muscle weakness)
• Developmental delay
• Speech difficulties
• Visual impairment
• Seizures
• Intellectual disability
• Ataxia (lack of muscle coordination)
• Hypertrophic cardiomyopathy (enlarged heart)

Diagnosis of COXPD type 25

COXPD type 25 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool that can detect mutations in the MARS2 gene. NGS can analyze multiple genes simultaneously and provide accurate results.

MARS2 Gene NGS Genetic DNA Test Cost

The cost of MARS2 Gene NGS Genetic DNA Test in India is around INR 20,000. The cost may vary depending on the laboratory and location.

Conclusion

MARS2 gene mutations can lead to COXPD type 25, which can cause a wide range of symptoms. Genetic testing through NGS can provide accurate diagnosis. The cost of the MARS2 Gene NGS Genetic DNA Test in India is around INR 20,000. If you or your loved one is experiencing any symptoms of COXPD type 25, consult a genetic counselor or healthcare professional for further evaluation and testing.

At DNA Labs India, we offer a comprehensive range of genetic testing services, including NGS. Our team of experienced professionals and genetic counselors can help you understand your test results and provide personalized recommendations. Contact us today to learn more.

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 MARS2 Gene Combined oxidative phosphorylation deficiency type 25 NGS Genetic DNA Test