Short Description

NGS genetic DNA test detecets for variant and mutation detection in DGUOK gene for Mitochondrial DNA depletion syndrome

PreTest Information

Clinical History of Patient who is going for DGUOK Gene Mitochondrial DNA depletion syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with DGUOK Gene Mitochondrial DNA depletion syndrome

Detail Description

DGUOK Gene Mitochondrial DNA Depletion Syndrome NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

DGUOK Gene Mitochondrial DNA Depletion Syndrome is a rare genetic disorder that affects the mitochondria of the body cells. The DGUOK gene provides instructions for making an enzyme called deoxyguanosine kinase, which is essential for the production of mitochondrial DNA. When there is a mutation in the DGUOK gene, it leads to a shortage of mitochondrial DNA, which affects the functioning of the mitochondria.

Symptoms of DGUOK Gene Mitochondrial DNA Depletion Syndrome

The symptoms of DGUOK Gene Mitochondrial DNA Depletion Syndrome can vary from person to person, and they usually appear in the first year of life. Some of the common symptoms include:

• Poor feeding and growth
• Lethargy
• Muscle weakness and low muscle tone
• Seizures
• Developmental delay
• Liver dysfunction
• Enlarged heart
• Lactic acidosis

Diagnosis of DGUOK Gene Mitochondrial DNA Depletion Syndrome

The diagnosis of DGUOK Gene Mitochondrial DNA Depletion Syndrome is based on the symptoms, family history, and genetic testing. The genetic testing is done through Next-Generation Sequencing (NGS) Genetic DNA Test, which is a comprehensive test that analyzes the entire coding region of the DGUOK gene. The NGS Genetic DNA Test can detect mutations in the DGUOK gene with high accuracy, making it an effective tool for diagnosis.

Cost of NGS Genetic DNA Test

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

Conclusion

DGUOK Gene Mitochondrial DNA Depletion Syndrome is a rare genetic disorder that affects the functioning of the mitochondria. The symptoms of the disorder can vary from person to person, and the diagnosis is based on genetic testing using NGS Genetic DNA Test. The cost of the test in India is around INR 20,000. Early diagnosis of the disorder can help in providing appropriate treatment and improving the quality of life of the affected individuals.

If you suspect that you or your child may have DGUOK Gene Mitochondrial DNA Depletion Syndrome, it is recommended to consult a genetic counselor or a healthcare professional for further evaluation and testing.