Short Description

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

PreTest Information

Clinical History of Patient who is going for PCCB 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

DNA Labs India - PCCB Gene Propionic acidemia NGS Genetic DNA Test

Propionic acidemia is a rare genetic disorder that affects the body's ability to process certain amino acids and fats. It is caused by a deficiency of the enzyme propionyl-CoA carboxylase (PCC), which is needed to break down these substances in the body. The PCCB gene provides instructions for making one of the two subunits of the PCC enzyme.

DNA Labs India offers a PCCB Gene Propionic acidemia NGS Genetic DNA Test to detect mutations in the PCCB gene that can cause propionic acidemia. The test uses Next-Generation Sequencing (NGS) technology to analyze the entire coding region of the PCCB gene, providing highly accurate results.

Cost of PCCB Gene Propionic acidemia NGS Genetic DNA Test

The cost of the PCCB Gene Propionic acidemia NGS Genetic DNA Test at DNA Labs India is INR 20,000. The test includes genetic counseling and a detailed report of the results.

Symptoms of Propionic Acidemia

Symptoms of propionic acidemia can vary widely from person to person and can range from mild to severe. Some common symptoms include:

• Poor feeding
• Vomiting
• Lethargy
• Hypotonia (low muscle tone)
• Developmental delay
• Seizures
• Coma

Without treatment, propionic acidemia can lead to life-threatening complications such as metabolic crises and organ damage.

Diagnosis of Propionic Acidemia

Propionic acidemia is typically diagnosed through a combination of physical examination, blood tests, and genetic testing. Blood tests can detect high levels of certain amino acids and organic acids that are characteristic of the disorder. Genetic testing, such as the PCCB Gene Propionic acidemia NGS Genetic DNA Test offered by DNA Labs India, can confirm a diagnosis and identify the specific mutations causing the disorder.

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 PCCB Gene Propionic acidemia NGS Genetic DNA Test