Short Description

NGS genetic DNA test detecets for variant and mutation detection in ASL gene for Argininosuccinic aciduria

PreTest Information

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

Detail Description

ASL Gene Argininosuccinic Aciduria NGS Genetic DNA Test Cost INR:20000 Symptoms Diagnosis

Argininosuccinic aciduria (ASA) is a rare genetic disorder that affects the production of the amino acid arginine. It is caused by a mutation in the ASL gene, which provides instructions for making the enzyme argininosuccinate lyase. This enzyme is necessary for the breakdown of argininosuccinic acid, a compound that is produced when the body breaks down proteins.

Individuals with ASA are unable to properly process argininosuccinic acid, leading to a buildup of toxic substances in the body. This can cause a range of symptoms, including:

• Seizures
• Lethargy
• Poor feeding
• Vomiting
• Behavioral problems

Diagnosis of ASA typically involves a blood test to measure the levels of argininosuccinic acid and other amino acids. Genetic testing may also be used to confirm the presence of a mutation in the ASL gene.

NGS (Next-Generation Sequencing) genetic testing is a powerful tool that can be used to identify mutations in the ASL gene. This type of testing involves sequencing the entire gene to identify any changes or variations that may be present. NGS testing can be particularly useful in cases where other diagnostic methods have been inconclusive.

At DNA Labs India, we offer NGS genetic testing for ASA at a cost of INR 20,000. This test provides accurate and reliable results, allowing for a definitive diagnosis of ASA.

If you suspect that you or a loved one may have ASA, it is important to seek medical attention as soon as possible. Early diagnosis and treatment can help to manage symptoms and prevent complications.

SEO Keywords:

ASL gene, argininosuccinic aciduria, NGS genetic testing, DNA test cost, symptoms, diagnosis.

Meta Description:

Learn about ASL gene mutations and argininosuccinic aciduria, a rare genetic disorder. Discover the benefits of NGS genetic testing and the cost of DNA testing at DNA Labs India.

The ASL gene is associated with a genetic disorder called argininosuccinic aciduria (ASA), also known as argininosuccinic acid synthetase deficiency. ASA is a rare metabolic disorder that affects the urea cycle, a series of biochemical reactions that play a crucial role in the removal of ammonia from the body. Deficiency of the enzyme argininosuccinate lyase, which is encoded by the ASL gene, leads to the accumulation of argininosuccinic acid and ammonia in the body.

Genetic testing for mutations in the ASL gene involves analyzing an individual's DNA to identify any variations or changes that may be responsible for causing argininosuccinic aciduria.