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HPRT1 Gene Lesch-Nyham syndrome Genetic Test

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

-21%

The HPRT1 gene Lesch-Nyhan syndrome genetic test is a specialized diagnostic tool aimed at identifying mutations in the HPRT1 gene, which are responsible for causing Lesch-Nyhan syndrome. This rare, inherited disorder is characterized by overproduction of uric acid in the body, leading to kidney and bladder stones, and neurological and behavioral abnormalities, including self-mutilating behaviors. The test is crucial for early diagnosis, enabling appropriate management and treatment plans to be established for affected individuals.

Conducted at DNA Labs UAE, a leading facility in genetic testing, this test provides a comprehensive analysis of the HPRT1 gene to detect any abnormalities or mutations. The process involves collecting a DNA sample, typically through a blood draw or cheek swab, which is then meticulously analyzed in the laboratory using advanced genetic sequencing technologies.

The cost of the HPRT1 gene Lesch-Nyhan syndrome genetic test is 4400 AED. Although the price may seem high, the value of obtaining an accurate diagnosis cannot be overstated, as it opens the door to targeted treatment options and genetic counseling for families affected by this condition. Given the complexity and the specialized nature of this test, it is conducted by highly trained professionals who ensure the accuracy and confidentiality of the results.

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HPRT1 Gene Lesch-Nyham Syndrome 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: Neurological Disorders

Doctor: Neurologist

Test Department: Genetics

Pre Test Information

Clinical History of Patient who is going for HPRT1 Gene Lesch-Nyham Syndrome NGS Genetic DNA Test

A Genetic Counselling session to draw a pedigree chart of family members affected with HPRT1 Gene Lesch-Nyham Syndrome

Test Details

The HPRT1 gene is associated with Lesch-Nyhan Syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities. The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT), which is involved in the recycling of purine nucleotides.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. It involves sequencing the DNA of an individual to identify any variations or mutations in the genes of interest. In the case of Lesch-Nyhan Syndrome, NGS genetic testing can be used to identify mutations in the HPRT1 gene.

By identifying specific mutations in the HPRT1 gene, NGS genetic testing can help confirm a diagnosis of Lesch-Nyhan Syndrome in individuals who exhibit symptoms of the disorder. It can also be used for carrier testing in individuals who have a family history of the condition but do not show any symptoms themselves.

NGS genetic testing can be performed using a variety of methods, such as whole-exome sequencing (WES) or targeted gene panel sequencing. These methods allow for the analysis of multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup.

It is important to note that NGS genetic testing is typically performed by healthcare professionals and genetic counselors who can interpret the results and provide appropriate guidance and counseling to individuals and families affected by Lesch-Nyhan Syndrome.

Test Name HPRT1 Gene Lesch-Nyham syndrome Genetic Test
Components
Price 4400.0 AED
Sample Condition Blood or Extracted DNA or One drop Blood on FTA Card o
Report Delivery 3 to 4 Weeks
Method NGS Technology
Test type Neurological Disorders
Doctor Neurologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for HPRT1 Gene Lesch-Nyham syndrome NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with HPRT1 Gene Lesch-Nyham syndrome
Test Details

The HPRT1 gene is associated with Lesch-Nyhan syndrome, a rare genetic disorder characterized by neurological and behavioral abnormalities. The HPRT1 gene provides instructions for producing an enzyme called hypoxanthine-guanine phosphoribosyltransferase (HPRT), which is involved in the recycling of purine nucleotides.

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously. It involves sequencing the DNA of an individual to identify any variations or mutations in the genes of interest. In the case of Lesch-Nyhan syndrome, NGS genetic testing can be used to identify mutations in the HPRT1 gene.

By identifying specific mutations in the HPRT1 gene, NGS genetic testing can help confirm a diagnosis of Lesch-Nyhan syndrome in individuals who exhibit symptoms of the disorder. It can also be used for carrier testing in individuals who have a family history of the condition but do not show any symptoms themselves.

NGS genetic testing can be performed using a variety of methods, such as whole-exome sequencing (WES) or targeted gene panel sequencing. These methods allow for the analysis of multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup.

It is important to note that NGS genetic testing is typically performed by healthcare professionals and genetic counselors who can interpret the results and provide appropriate guidance and counseling to individuals and families affected by Lesch-Nyhan syndrome.