Short Description

NGS genetic DNA test detecets for variant and mutation detection in PDSS1 gene for Coenzyme Q10 deficiency type 2

PreTest Information

Clinical History of Patient who is going for PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with PDSS1 Gene Coenzyme Q10 deficiency type 2

Detail Description

PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test

PDSS1 gene coenzyme Q10 deficiency type 2 is a rare genetic disorder that affects the production of coenzyme Q10 in the body. Coenzyme Q10 is a vital nutrient that is required for the proper functioning of cells in the body. It helps in the production of energy in the cells and also acts as an antioxidant. Deficiency of coenzyme Q10 can lead to various health problems such as muscle weakness, seizures, and heart failure. PDSS1 gene coenzyme Q10 deficiency type 2 is caused by mutations in the PDSS1 gene, which is responsible for the production of coenzyme Q10 in the body.

Symptoms of PDSS1 Gene Coenzyme Q10 Deficiency Type 2

The symptoms of PDSS1 gene coenzyme Q10 deficiency type 2 can vary from person to person. Some of the common symptoms include:

• Muscle weakness
• Seizures
• Developmental delay
• Intellectual disability
• Heart failure
• Respiratory failure

Diagnosis of PDSS1 Gene Coenzyme Q10 Deficiency Type 2

PDSS1 gene coenzyme Q10 deficiency type 2 can be diagnosed through genetic testing. Next-generation sequencing (NGS) genetic DNA testing is a highly accurate and reliable method for diagnosing genetic disorders. It involves the sequencing of DNA to identify mutations in the PDSS1 gene that cause coenzyme Q10 deficiency type 2. The test can be performed on a blood sample or a saliva sample.

Cost of PDSS1 Gene Coenzyme Q10 Deficiency Type 2 NGS Genetic DNA Test in India

The cost of PDSS1 gene coenzyme Q10 deficiency type 2 NGS genetic DNA test in India is approximately INR 20,000. The cost may vary depending on the laboratory where the test is performed.

Conclusion

PDSS1 gene coenzyme Q10 deficiency type 2 is a rare genetic disorder that can cause various health problems. Genetic testing through NGS genetic DNA testing can help in the accurate diagnosis of the condition. The cost of the test in India is reasonable and can provide valuable information to patients and their families.

If you suspect that you or someone in your family may have PDSS1 gene coenzyme Q10 deficiency type 2, it is important to consult a genetic counselor or a healthcare professional for further evaluation and testing.

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 PDSS1 Gene Coenzyme Q10 deficiency type 2 NGS Genetic DNA Test