Short Description

NGS genetic DNA test detecets for variant and mutation detection in PNPT1 gene for Combined oxidative phosphorylation deficiency type 13

PreTest Information

Clinical History of Patient who is going for PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Combined oxidative phosphorylation deficiency type 13

Detail Description

PNPT1 Gene Combined Oxidative Phosphorylation Deficiency Type 13 NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

PNPT1 gene mutations have been identified as a cause of combined oxidative phosphorylation deficiency type 13 (COXPD13), which is a rare genetic disorder that affects the body's ability to produce energy. The disorder is caused by a lack of functional mitochondria, which are responsible for producing energy in the body. The PNPT1 gene provides instructions for making a protein that is involved in the processing of RNA molecules, which are essential for the production of proteins that carry out various functions in the body.

Symptoms of COXPD13

The symptoms of COXPD13 can vary widely from person to person. Some people may experience severe symptoms, while others may have only mild symptoms. Some of the common symptoms of COXPD13 include:

• Developmental delay
• Weakness and fatigue
• Difficulty breathing
• Muscle weakness and stiffness
• Heart problems
• Abnormal liver function

Diagnosis

COXPD13 can be diagnosed through genetic testing. Next-generation sequencing (NGS) is a powerful tool for identifying genetic mutations that cause disease. NGS allows for the rapid and accurate sequencing of large numbers of genes, making it an efficient way to screen for genetic disorders. The PNPT1 gene can be sequenced using NGS, which can identify mutations that are associated with COXPD13.

Cost of the PNPT1 Gene NGS Test

The cost of the PNPT1 gene NGS test in India is typically around INR 20,000. This cost may vary depending on the specific laboratory that performs the test and the extent of genetic analysis that is required. Some labs may offer discounted rates for patients who are referred by a healthcare provider.

Conclusion

COXPD13 is a rare genetic disorder that can cause a wide range of symptoms. Genetic testing, such as NGS sequencing of the PNPT1 gene, can help to diagnose the disorder and guide treatment. The cost of the PNPT1 gene NGS test in India is typically around INR 20,000. If you or a loved one are experiencing symptoms of COXPD13, speak to your healthcare provider about genetic testing options.

For more information on genetic testing and DNA labs in India, contact DNA Labs India.

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 PNPT1 Gene Combined oxidative phosphorylation deficiency type 13 NGS Genetic DNA Test