Short Description

NGS genetic DNA test detecets for variant and mutation detection in ARG1 gene for Arginase deficiency

PreTest Information

Clinical History of Patient who is going for ARG1 Gene Arginase deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Arginase deficiency

Detail Description

ARG1 Gene Arginase Deficiency: Symptoms, Diagnosis, and NGS Genetic DNA Test Cost in India

Arginase deficiency is a rare genetic disorder that affects the body's ability to break down the amino acid arginine. The ARG1 gene provides instructions for making the arginase enzyme, which is responsible for breaking down arginine into urea and ornithine. When this gene is mutated or absent, arginine accumulates in the blood and causes a variety of symptoms.

Symptoms of Arginase Deficiency

Symptoms of arginase deficiency can vary widely depending on the severity of the condition. In some cases, affected individuals may have no symptoms at all, while in others, the symptoms can be life-threatening. Some common symptoms of arginase deficiency include:

• Developmental delays
• Mental retardation
• Seizures
• Spasticity or stiffness in the arms and legs
• Difficulty walking
• Behavioral problems
• Jaundice
• Abnormal liver function tests

Diagnosis of Arginase Deficiency

Arginase deficiency is typically diagnosed through a combination of clinical evaluation, blood tests, and genetic testing. Blood tests can measure the levels of arginine in the blood, while genetic testing can identify mutations in the ARG1 gene. In some cases, imaging tests such as MRI or CT scans may be used to evaluate the brain and other organs for abnormalities.

NGS Genetic DNA Test Cost in India

NGS (Next Generation Sequencing) genetic DNA testing is a powerful tool for identifying genetic mutations associated with a wide range of diseases, including arginase deficiency. This type of testing uses advanced sequencing technology to analyze large amounts of DNA in a short amount of time.

The cost of NGS genetic DNA testing for arginase deficiency in India can vary depending on the laboratory and the specific tests ordered. On average, the cost of these tests can range from INR 15,000 to INR 25,000. It is important to note that these tests may not be covered by insurance, and out-of-pocket costs can be significant.

Conclusion

Arginase deficiency is a rare genetic disorder that can cause a variety of symptoms, from developmental delays to seizures and liver dysfunction. Diagnosis typically involves a combination of clinical evaluation, blood tests, and genetic testing. NGS genetic DNA testing can be a powerful tool for identifying mutations associated with this condition, but costs can vary widely depending on the laboratory and specific tests ordered.

If you suspect that you or a loved one may have arginase deficiency, it is important to seek medical evaluation and testing as soon as possible. Early diagnosis and treatment can help manage symptoms and improve outcomes.