Short Description

NGS genetic DNA test detecets for variant and mutation detection in PCCA gene for Propionic acidemia

PreTest Information

Clinical History of Patient who is going for PCCA Gene Propionic acidemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Propionic acidemia

Detail Description

PCCA Gene Propionic Acidemia NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Propionic acidemia is a rare genetic disorder that affects the metabolism of certain amino acids and fatty acids. The PCCA gene is responsible for producing an enzyme that helps to break down these substances. Mutations in the PCCA gene can result in a buildup of toxic substances in the body, leading to a range of symptoms and complications.

Symptoms of Propionic Acidemia

Propionic acidemia can present with a variety of symptoms, which can vary in severity depending on the individual. Some of the most common symptoms include:

• Poor feeding and vomiting
• Weakness and lethargy
• Irritability and agitation
• Seizures
• Developmental delay
• Enlarged liver
• Low blood sugar

These symptoms can develop in infancy or early childhood and can lead to serious complications if left untreated. It is important to seek medical attention if you suspect your child may be experiencing symptoms of propionic acidemia.

Diagnosis of Propionic Acidemia

Diagnosis of propionic acidemia typically involves a combination of physical examination, blood tests, and genetic testing. Blood tests can reveal elevated levels of certain substances in the blood, which can indicate the presence of the condition. Genetic testing can identify mutations in the PCCA gene that are responsible for the condition.

NGS Genetic DNA Test for Propionic Acidemia

NGS genetic DNA testing is a powerful diagnostic tool that can identify mutations in the PCCA gene associated with propionic acidemia. This test involves sequencing the entire PCCA gene to identify any mutations that may be present. NGS testing is highly accurate and can detect mutations that may be missed by other diagnostic methods.

Cost of NGS Genetic DNA Test for Propionic Acidemia

The cost of NGS genetic DNA testing for propionic acidemia can vary depending on the testing provider and location. In India, the cost of this test is typically around INR 20,000. It is important to consult with a genetic counselor or healthcare provider to determine if this test is appropriate and to discuss insurance coverage or other payment options.

Conclusion

Propionic acidemia is a rare genetic disorder that can cause serious symptoms and complications if left untreated. The PCCA gene is responsible for producing an enzyme that helps to break down certain amino acids and fatty acids. Mutations in this gene can result in a buildup of toxic substances in the body, leading to the symptoms of propionic acidemia. NGS genetic DNA testing is a powerful diagnostic tool that can identify mutations in the PCCA gene associated with this condition. If you suspect your child may be experiencing symptoms of propionic acidemia, it is important to seek medical attention and discuss diagnostic testing options with your healthcare provider.

For more information on genetic testing and other diagnostic services, 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 PCCA Gene Propionic acidemia NGS Genetic DNA Test