Short Description

NGS genetic DNA test detecets for variant and mutation detection in CAT gene for Acatalasemia

PreTest Information

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

Detail Description

CAT Gene Acatalasemia NGS Genetic DNA Test

CAT gene acatalasemia is a rare genetic condition that affects the body's ability to produce an enzyme called catalase. This enzyme plays a crucial role in protecting the body's cells from damage caused by reactive oxygen species. Individuals with acatalasemia have low or no catalase activity, which can lead to a variety of symptoms, including:

• Oral ulcers
• Gingivitis
• Periodontitis
• Abdominal pain
• Diarrhea
• Hyperhidrosis (excessive sweating)
• Delayed wound healing
• And more

Acatalasemia is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. The CAT gene is located on chromosome 11, and mutations in this gene can result in acatalasemia.

Diagnosis of CAT Gene Acatalasemia

Diagnosis of acatalasemia can be made through a variety of methods, including:

• Clinical evaluation of symptoms
• Enzyme activity assay
• Genetic testing

Enzyme activity assays can be used to measure catalase activity in an individual's blood or other tissues. However, these tests may not always be reliable, as some individuals with acatalasemia may have residual catalase activity that is not detectable by these assays.

Genetic testing, on the other hand, can provide a definitive diagnosis of acatalasemia. Next-generation sequencing (NGS) technologies can be used to sequence the entire CAT gene and identify mutations that are associated with acatalasemia.

CAT Gene Acatalasemia NGS Genetic DNA Test Cost

The cost of CAT gene acatalasemia NGS genetic DNA testing in India can vary depending on the laboratory and specific testing methods used. On average, the cost of this test can range from INR 15,000 to INR 25,000.

Conclusion

CAT gene acatalasemia is a rare genetic condition that can lead to a variety of symptoms. Diagnosis of this condition can be made through clinical evaluation, enzyme activity assays, or genetic testing. NGS technologies can be used to sequence the entire CAT gene and identify mutations associated with acatalasemia. The cost of CAT gene acatalasemia NGS genetic DNA testing in India can vary, but on average, it is around INR 20,000.

If you suspect that you or a loved one may have acatalasemia, it is important to speak with a healthcare professional or genetic counselor to determine the best course of action.

For more information on genetic testing and DNA analysis, contact DNA Labs India today.