Short Description

NGS genetic DNA test detecets for variant and mutation detection in MRPS22 gene for Combined oxidative phosphorylation deficiency type 5

PreTest Information

Clinical History of Patient who is going for MRPS22 Gene Combined oxidative phosphorylation deficiency type 5 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 5

Detail Description

MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5 NGS Genetic DNA Test

MRPS22 gene combined oxidative phosphorylation deficiency type 5 is a rare genetic disorder that affects the body's ability to produce energy. It is caused by mutations in the MRPS22 gene, which provides instructions for making a protein that is essential for the production of ATP, the primary source of energy for the body's cells. This disorder is inherited in an autosomal recessive pattern, which means that an affected individual must inherit two copies of the mutated gene, one from each parent.

Symptoms of MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5

The symptoms of MRPS22 gene combined oxidative phosphorylation deficiency type 5 can vary widely in severity and may include:

• Weakness and fatigue
• Delayed development
• Seizures
• Respiratory problems
• Intellectual disability
• Muscle weakness and atrophy
• Visual impairment

Diagnosis of MRPS22 Gene Combined Oxidative Phosphorylation Deficiency Type 5

Diagnosis of MRPS22 gene combined oxidative phosphorylation deficiency type 5 is typically based on a combination of clinical findings, family history, and genetic testing. A genetic test called Next-Generation Sequencing (NGS) can be used to sequence the MRPS22 gene and identify mutations that are associated with this disorder.

NGS Genetic DNA Test Cost

The cost of an NGS genetic DNA test for MRPS22 gene combined oxidative phosphorylation deficiency type 5 in India is approximately INR 20,000.

Conclusion

MRPS22 gene combined oxidative phosphorylation deficiency type 5 is a rare genetic disorder that can cause a range of symptoms, including weakness, fatigue, seizures, and intellectual disability. Diagnosis of this disorder typically involves genetic testing using Next-Generation Sequencing (NGS) technology. The cost of an NGS genetic DNA test for MRPS22 gene combined oxidative phosphorylation deficiency type 5 in India is approximately INR 20,000.

If you suspect that you or a loved one may have MRPS22 gene combined oxidative phosphorylation deficiency type 5, it is important to speak with a healthcare provider or genetic counselor who can help you understand your options for testing, treatment, and management of this disorder.

At DNA Labs India, we offer a range of genetic testing services, including NGS genetic DNA testing for MRPS22 gene combined oxidative phosphorylation deficiency type 5. Our team of experienced genetic counselors and laboratory professionals are dedicated to providing accurate, reliable, and confidential testing services to individuals and families in India and around the world.

Contact us today to learn more about our genetic testing services and how we can help you get the answers you need.