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HPD Gene Hawkinsinuria Genetic Test Cost

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

-21%

The HPD Gene Hawkinsinuria Genetic Test is a specialized diagnostic procedure designed to detect mutations in the HPD gene, which are associated with Hawkinsinuria, a rare metabolic disorder. This condition is inherited in an autosomal dominant manner and is characterized by the presence of a unique amino acid, hawkinsin, in the urine. Individuals with Hawkinsinuria may experience a variety of symptoms, including metabolic acidosis, failure to thrive, and intermittent maple syrup urine disease-like symptoms, particularly during infancy.

The test is conducted by DNA Labs UAE, a leading provider of genetic testing services in the United Arab Emirates. By analyzing a patient’s DNA sample, usually obtained through a blood draw or cheek swab, the test can identify specific mutations in the HPD gene that are responsible for Hawkinsinuria. This genetic insight is crucial for confirming the diagnosis, understanding the condition’s inheritance pattern within a family, and guiding treatment and management decisions.

The cost of the HPD Gene Hawkinsinuria Genetic Test at DNA Labs UAE is 4400 AED. Given the complexity of genetic testing and the specialized analysis involved, this price reflects the technological and professional expertise required to accurately diagnose Hawkinsinuria at a molecular level. Patients considering this test should consult with their healthcare provider to ensure it is appropriate for their specific situation and to discuss any potential financial considerations or insurance coverage.

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HPD Gene Hawkinsinuria Genetic Test

At DNA Labs UAE, we offer the HPD Gene Hawkinsinuria Genetic Test at a cost of AED 4400.0.

Test Details

The HPD gene Hawkinsinuria NGS genetic test is a type of genetic test that analyzes the HPD gene for mutations associated with Hawkinsinuria. Hawkinsinuria is a rare metabolic disorder characterized by the inability to break down the amino acid tyrosine properly, leading to the buildup of a toxic compound called hawkinsin.

The HPD gene provides instructions for producing an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of tyrosine. Mutations in the HPD gene can impair the function of this enzyme, leading to the accumulation of hawkinsin and the development of Hawkinsinuria.

NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the case of the HPD gene Hawkinsinuria NGS genetic test, NGS technology is used to sequence and analyze the entire HPD gene for any mutations or genetic variants that may be associated with Hawkinsinuria.

This genetic test can help diagnose Hawkinsinuria in individuals with symptoms suggestive of the condition and can also be used for carrier testing in individuals with a family history of the disorder. Early diagnosis through genetic testing can enable appropriate management and treatment of Hawkinsinuria.

Test Components and Price

The HPD Gene Hawkinsinuria Genetic Test is priced at AED 4400.0.

Sample Condition

For this test, we require either blood, extracted DNA, or one drop of blood on an FTA Card as a sample condition.

Report Delivery

Once the sample is received, the report will be delivered within 3 to 4 weeks.

Method

The HPD Gene Hawkinsinuria Genetic Test utilizes NGS technology for analysis.

Test Type

This test falls under the category of Metabolic Disorders.

Doctor

The test can be ordered by a General Physician.

Test Department

The HPD Gene Hawkinsinuria Genetic Test is conducted in our Genetics department.

Pre Test Information

Prior to the test, it is recommended to provide the clinical history of the patient who is going for the HPD Gene Hawkinsinuria NGS Genetic DNA Test. Additionally, a Genetic Counselling session will be conducted to draw a pedigree chart of family members affected with Hawkinsinuria.

Test Name HPD Gene Hawkinsinuria 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 HPD Gene Hawkinsinuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with Hawkinsinuria
Test Details

HPD gene Hawkinsinuria NGS genetic test is a type of genetic test that analyzes the HPD gene for mutations associated with Hawkinsinuria. Hawkinsinuria is a rare metabolic disorder characterized by the inability to break down the amino acid tyrosine properly, leading to the buildup of a toxic compound called hawkinsin.

The HPD gene provides instructions for producing an enzyme called 4-hydroxyphenylpyruvate dioxygenase, which is involved in the breakdown of tyrosine. Mutations in the HPD gene can impair the function of this enzyme, leading to the accumulation of hawkinsin and the development of Hawkinsinuria.

NGS (Next-Generation Sequencing) is a high-throughput DNA sequencing technology that allows for the simultaneous analysis of multiple genes. In the case of the HPD gene Hawkinsinuria NGS genetic test, NGS technology is used to sequence and analyze the entire HPD gene for any mutations or genetic variants that may be associated with Hawkinsinuria.

This genetic test can help diagnose Hawkinsinuria in individuals with symptoms suggestive of the condition and can also be used for carrier testing in individuals with a family history of the disorder. Early diagnosis through genetic testing can enable appropriate management and treatment of Hawkinsinuria.

SKU: TEST-2408 Category:

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