Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASS1 gene for Citrullinemia

PreTest Information

Clinical History of Patient who is going for ASS1 Gene Citrullinemia NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Citrullinemia

Detail Description

ASS1 Gene Citrullinemia NGS Genetic DNA Test

DNA Labs India offers a comprehensive genetic testing service that includes the ASS1 Gene Citrullinemia NGS Genetic DNA Test. This test is designed to identify mutations in the ASS1 gene that may cause citrullinemia, a rare genetic disorder that affects the body's ability to break down and eliminate ammonia.

What is Citrullinemia?

Citrullinemia is a rare genetic disorder that affects the body's ability to break down and eliminate ammonia, a waste product that is produced when proteins are broken down. There are two types of citrullinemia: type I and type II. Type I is caused by a deficiency in the enzyme argininosuccinate synthetase, which is encoded by the ASS1 gene. Type II is caused by a deficiency in the enzyme citrin, which is encoded by the SLC25A13 gene.

What are the Symptoms of Citrullinemia?

The symptoms of citrullinemia can vary widely depending on the type and severity of the disorder. Common symptoms may include:

• High levels of ammonia in the blood
• Loss of appetite
• Vomiting
• Lethargy
• Seizures
• Coma

How is Citrullinemia Diagnosed?

Citrullinemia is typically diagnosed through a combination of physical exams, blood tests, and genetic testing. Blood tests can measure the levels of ammonia in the blood, as well as other substances that may be elevated in people with citrullinemia. Genetic testing can identify mutations in the ASS1 or SLC25A13 genes that may cause citrullinemia.

What is the ASS1 Gene Citrullinemia NGS Genetic DNA Test?

The ASS1 Gene Citrullinemia NGS Genetic DNA Test is a comprehensive genetic test that is designed to identify mutations in the ASS1 gene that may cause citrullinemia. The test uses next-generation sequencing (NGS) technology to analyze the entire coding region of the ASS1 gene, which contains the instructions for producing the argininosuccinate synthetase enzyme.

What is the Cost of the ASS1 Gene Citrullinemia NGS Genetic DNA Test?

The cost of the ASS1 Gene Citrullinemia NGS Genetic DNA Test is INR 20,000. This includes the cost of the test itself, as well as any necessary pre-test counseling and post-test genetic counseling.

Why Choose DNA Labs India for Genetic Testing?

DNA Labs India is a leading provider of genetic testing services in India. Our team of genetic counselors and laboratory professionals are dedicated to providing our clients with accurate, reliable, and confidential genetic testing services. We use the latest technology and techniques to ensure that our tests are accurate and reliable, and we provide our clients with comprehensive pre-test and post-test counseling to help them understand their results and make informed decisions about their health.