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. |
