Short Description

NGS genetic DNA test detecets for variant and mutation detection in AARS2 gene for Combined oxidative phosphorylation deficiency type 8

PreTest Information

Clinical History of Patient who is going for AARS2 Gene Combined oxidative phosphorylation deficiency type 8 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 8

Detail Description

AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

AARS2 gene mutations have been associated with Combined Oxidative Phosphorylation Deficiency Type 8 (COXPD8), a rare condition that affects the functioning of mitochondria, the energy-producing structures in cells. COXPD8 can cause a range of symptoms, including developmental delay, muscle weakness, seizures, and vision and hearing problems.

NGS Genetic DNA testing can help diagnose COXPD8 by identifying mutations in the AARS2 gene. DNA Labs India provides advanced genetic testing services, including NGS Genetic DNA testing, at affordable prices. The cost of the AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test is INR:20000.

Symptoms of COXPD8

• Developmental delay
• Muscle weakness and wasting
• Seizures
• Vision problems
• Hearing loss
• Respiratory difficulties
• Intellectual disability

Diagnosis of COXPD8

COXPD8 can be diagnosed through genetic testing, including NGS Genetic DNA testing. AARS2 gene mutations can be identified through blood or saliva samples. Genetic counseling can also be helpful for families affected by COXPD8 to understand the risks and implications of the condition.

Conclusion

COXPD8 is a rare condition that can cause a range of symptoms, including developmental delay, muscle weakness, seizures, and vision and hearing problems. NGS Genetic DNA testing can help diagnose COXPD8 by identifying mutations in the AARS2 gene. DNA Labs India provides advanced genetic testing services, including NGS Genetic DNA testing, at affordable prices. The cost of the AARS2 Gene Combined Oxidative Phosphorylation Deficiency Type 8 NGS Genetic DNA Test is INR:20000.