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WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test Cost

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

-21%

The WASHC5 gene, associated with Ritscher-Schinzel Syndrome Type 1, plays a crucial role in this rare genetic disorder characterized by congenital heart defects, cerebellar abnormalities, and distinctive facial features. A genetic test for identifying mutations in the WASHC5 gene can provide definitive diagnosis and is crucial for understanding the risk of passing the condition to offspring, guiding medical management, and offering tailored care to affected individuals.

DNA Labs UAE offers a specialized genetic test for the WASHC5 gene to diagnose Ritscher-Schinzel Syndrome Type 1. The test is priced at 4400 AED and involves analyzing the patient’s DNA to detect mutations in the WASHC5 gene that are indicative of the syndrome. This precise testing method is vital for families seeking answers to developmental and health concerns related to this condition. By choosing DNA Labs UAE for this test, patients and healthcare providers can expect accurate, reliable results that are essential for informed decision-making regarding treatment and genetic counseling.

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WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test

Introduction

The WASHC5 gene is associated with Ritscher-Schinzel syndrome type 1, also known as 3C syndrome. This rare genetic disorder is characterized by multiple congenital anomalies, including craniofacial abnormalities, cardiac defects, and cerebellar hypoplasia.

Test Details

The WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test is a Next-Generation Sequencing (NGS) genetic test. NGS technology allows for the analysis of multiple genes simultaneously. This test specifically focuses on identifying mutations or variations in the WASHC5 gene that may be responsible for the syndrome.

Components and Price

  • Test Name: WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test
  • Components: NGS Technology
  • Price: 4400.0 AED
  • Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
  • Report Delivery: 3 to 4 Weeks
  • Test Type: Dysmorphology
  • Doctor: Pediatrics
  • Test Department: Genetics

Pre-Test Information

Before undergoing the WASHC5 Gene Ritscher-Schinzel Syndrome Type 1 Genetic Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by the syndrome.

NGS Testing and Diagnosis

NGS testing involves sequencing the DNA of an individual and comparing it to a reference genome. This allows for the identification of specific genetic variations associated with Ritscher-Schinzel syndrome type 1. By analyzing the WASHC5 gene, NGS testing can provide a definitive diagnosis.

It is important to note that NGS testing may not be available in all healthcare settings. It is typically recommended for individuals who have already undergone standard genetic testing methods without obtaining a diagnosis for suspected genetic disorders.

Implications and Genetic Counseling

The results of NGS testing can help guide treatment decisions, provide information about the prognosis, and assist with family planning. Genetic counseling is often recommended both before and after NGS testing to ensure a comprehensive understanding of the results and their implications.

Test Name WASHC5 Gene Ritscher-Schinzel syndrome 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 Dysmorphology
Doctor Pediatrics
Test Department: Genetics
Pre Test Information Clinical History of Patient who is going for WASHC5 Gene Ritscher-Schinzel syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with WASHC5 Gene Ritscher-Schinzel syndrome type 1 NGS Genetic DNA Test gene WASHC5
Test Details

The WASHC5 gene is associated with Ritscher-Schinzel syndrome type 1, also known as 3C syndrome. This syndrome is a rare genetic disorder characterized by the presence of multiple congenital anomalies, including craniofacial abnormalities, cardiac defects, and cerebellar hypoplasia.

NGS (Next-Generation Sequencing) genetic testing is a high-throughput method used to analyze multiple genes simultaneously. In the case of Ritscher-Schinzel syndrome type 1, NGS testing can be used to identify mutations or variations in the WASHC5 gene that may be responsible for the syndrome.

NGS testing involves sequencing the DNA of an individual and comparing it to a reference genome. This allows for the identification of specific genetic variations that may be associated with the disease. By analyzing the WASHC5 gene, NGS testing can provide a definitive diagnosis of Ritscher-Schinzel syndrome type 1.

It is important to note that NGS testing may not be available in all healthcare settings, and it is typically recommended for individuals with suspected genetic disorders who have already undergone standard genetic testing methods without obtaining a diagnosis. The results of NGS testing can help guide treatment decisions, provide information about the prognosis, and assist with family planning. Genetic counseling is often recommended before and after NGS testing to ensure a comprehensive understanding of the results and their implications.

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