CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency Genetic Test sale cost 4400 AED
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CA5A Gene Hyperammonemia Due to Carbonic Anhydrase VA Deficiency Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

The CA5A gene hyperammonemia due to carbonic anhydrase VA deficiency genetic test is a specialized diagnostic procedure offered at DNA Labs UAE, designed to detect mutations in the CA5A gene. These mutations can lead to a rare metabolic disorder characterized by an inability to properly process and eliminate ammonia from the body, resulting in hyperammonemia. This condition, known as carbonic anhydrase VA deficiency, can cause a variety of symptoms, ranging from mild to severe, including neurological impairment and developmental delays.

The test is conducted through a detailed analysis of the patient’s DNA, aiming to identify any genetic abnormalities in the CA5A gene that could disrupt the function of carbonic anhydrase VA, an enzyme critical for ammonia detoxification and energy production. Early detection through this genetic test is crucial, as it can lead to timely intervention and management of the condition, potentially preventing serious complications.

At DNA Labs UAE, the cost for this comprehensive genetic test is set at 4400 AED. The facility ensures accurate and reliable results, utilizing state-of-the-art genetic testing technologies and adhering to stringent quality control measures. Patients undergoing this test at DNA Labs UAE can expect a professional service, with support and guidance provided throughout the testing process, from sample collection to the interpretation of results.

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  • This test is not intended for medical diagnosis or treatment
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CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency Genetic Test

Genetic testing plays a crucial role in understanding and diagnosing various genetic disorders. One such disorder is CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency. DNA Labs UAE offers a comprehensive genetic test for this condition.

Test Details

The CA5A gene is responsible for encoding the carbonic anhydrase VA enzyme, which plays a vital role in the urea cycle. The urea cycle is responsible for detoxifying ammonia in the body. Hyperammonemia refers to elevated levels of ammonia in the blood, which can be harmful to the brain and other organs. A deficiency in carbonic anhydrase VA due to mutations in the CA5A gene can lead to impaired ammonia detoxification and subsequently result in hyperammonemia.

This condition is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated CA5A gene (one from each parent) to develop the disorder.

NGS Technology

NGS (Next-Generation Sequencing) genetic testing is a state-of-the-art technology that allows for the simultaneous analysis of multiple genes or the entire exome (the protein-coding region of the genome). It uses high-throughput sequencing technology to rapidly sequence and analyze a large amount of genetic information.

NGS genetic testing can identify mutations or variations in the CA5A gene that may be responsible for hyperammonemia. By analyzing the specific mutations or variations in the CA5A gene, this test can help diagnose individuals with hyperammonemia due to carbonic anhydrase VA deficiency.

Test Components and Price

The CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency Genetic Test is available at DNA Labs UAE for a cost of 4400.0 AED. The test can be performed on blood samples, extracted DNA, or even one drop of blood on an FTA card.

Report Delivery and Test Type

The report for this genetic test will be delivered within 3 to 4 weeks. The test falls under the category of Metabolic Disorders and is conducted in the Genetics department.

Pre Test Information

Before undergoing the CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency Genetic Test, it is recommended to provide the clinical history of the patient. Additionally, a Genetic Counselling session is advised to draw a pedigree chart of family members affected by Hyperammonemia due to carbonic anhydrase VA deficiency.

Doctor and Test Department

A General Physician can refer patients for this genetic test. The test will be conducted in the Genetics department at DNA Labs UAE.

Conclusion

The CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency Genetic Test offered by DNA Labs UAE is a valuable tool in diagnosing individuals with hyperammonemia. By identifying specific mutations or variations in the CA5A gene, this test can help determine the underlying cause of the condition, predict disease progression, and inform treatment options.

Test Name CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Metabolic Disorders
Doctor General Physician
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for CA5A Gene Hyperammonemia due to carbonic anhydrase VA deficiency NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hyperammonemia due to carbonic anhydrase VA deficiency
Test Details

The CA5A gene is responsible for encoding the carbonic anhydrase VA enzyme. Carbonic anhydrase VA plays a crucial role in the urea cycle, which is responsible for the detoxification of ammonia in the body. Hyperammonemia refers to elevated levels of ammonia in the blood, which can be toxic to the brain and other organs.

A deficiency in carbonic anhydrase VA due to mutations in the CA5A gene can lead to impaired ammonia detoxification and subsequently result in hyperammonemia. This condition is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated CA5A gene (one from each parent) to develop the disorder.

NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that allows for the simultaneous analysis of multiple genes or the entire exome (the protein-coding region of the genome). It uses high-throughput sequencing technology to rapidly sequence and analyze a large amount of genetic information. NGS can be used to identify mutations or variations in the CA5A gene that may be responsible for hyperammonemia.

NGS genetic testing can help in diagnosing individuals with hyperammonemia due to carbonic anhydrase VA deficiency by identifying specific mutations or variations in the CA5A gene. This information can be useful for determining the underlying cause of the condition, predicting disease progression, and informing treatment options.

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