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VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test

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

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The VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 (ARC syndrome) Genetic Test is a specialized diagnostic assessment available at DNA Labs UAE. This test specifically targets the VPS33B gene, mutations in which are known to cause ARC syndrome, a rare and often fatal autosomal recessive disorder. ARC syndrome is characterized by a triad of symptoms: arthrogryposis (joint contractures), renal tubular dysfunction, and cholestasis (impaired bile flow). Early and accurate diagnosis through genetic testing is crucial for management and potential treatment options for affected individuals.

The test involves a detailed analysis of the VPS33B gene to identify mutations that lead to the disorder, providing valuable information for families and physicians regarding prognosis, potential interventions, and genetic counseling. The cost of the VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test at DNA Labs UAE is 4400 AED, reflecting the specialized nature of the test and the advanced technology and expertise required to conduct it. This test is an essential tool for families with a history of ARC syndrome or those experiencing related symptoms, offering hope for better management of this challenging condition.

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VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test

At DNA Labs UAE, we offer the VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test at a cost of AED 4400.0. This test is designed to diagnose individuals with Arthrogryposis, Renal Dysfunction, and Cholestasis type 1 (ARC1), a genetic disorder characterized by multiple joint contractures, kidney dysfunction, and liver dysfunction.

Test Details

The VPS33B gene is associated with ARC1. To identify any genetic variations or mutations responsible for the disorder, we utilize NGS (Next-Generation Sequencing) technology, which allows us to analyze multiple genes simultaneously. By focusing on the VPS33B gene, we can determine if there are any variations or mutations present.

To conduct the test, we require a DNA sample. This can be obtained through a blood sample, saliva sample, or by using one drop of blood on an FTA Card. The sample is then processed using NGS technology, and the results are delivered within 3 to 4 weeks.

Pre Test Information

Prior to undergoing the VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test, it is essential to provide the clinical history of the patient. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by ARC1. This helps us gain a comprehensive understanding of the genetic makeup and inheritance patterns within the family.

Test Type and Doctor

The VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test falls under the category of Osteology Dermatology Immunology Disorders. Our experienced dermatologist oversees this test in our Genetics department.

Test Results and Implications

The results of the NGS genetic test can confirm a diagnosis of ARC1 and provide valuable information for genetic counseling, prognosis, and potential treatment options. However, it is crucial to consult with a healthcare professional or genetic counselor to fully comprehend the implications of the test results and discuss any further steps or recommendations.

At DNA Labs UAE, we strive to provide accurate and reliable genetic testing services. Our VPS33B Gene Arthrogryposis Renal Dysfunction and Cholestasis Type 1 Genetic Test can assist in diagnosing ARC1 and guiding patients towards appropriate medical management and support.

Test Name VPS33B Gene Arthrogryposis renal dysfunction and cholestasis type 1 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 Osteology Dermatology Immunology Disorders
Doctor Dermatologist
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with VPS33B Gene Arthrogryposis, renal dysfunction, and cholestasis type 1 NGS Genetic DNA Test gene VPS33B
Test Details

The VPS33B gene is associated with a genetic disorder called Arthrogryposis, Renal Dysfunction, and Cholestasis type 1 (ARC1). This disorder is characterized by multiple joint contractures (arthrogryposis), kidney dysfunction (renal dysfunction), and liver dysfunction (cholestasis).

NGS (Next-Generation Sequencing) genetic testing is a method used to analyze multiple genes simultaneously to identify any genetic variations or mutations that may be responsible for a particular disorder. In the case of ARC1, NGS genetic testing can help identify variations or mutations in the VPS33B gene that may be causing the disorder.

The genetic test involves obtaining a DNA sample, usually through a blood sample or saliva sample, from the individual suspected of having ARC1. The DNA is then sequenced using NGS technology to identify any variations or mutations in the VPS33B gene.

The results of the NGS genetic test can help confirm a diagnosis of ARC1 and provide valuable information for genetic counseling, prognosis, and potential treatment options. It is important to consult with a healthcare professional or genetic counselor to understand the implications of the test results and to discuss any further steps or recommendations.

SKU: TEST-2851 Category:

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