ATRIP Gene Seckel Syndrome Genetic Test
Cost: AED 4400.0
Introduction
Seckel syndrome is a rare genetic disorder characterized by severe growth retardation, microcephaly (small head size), intellectual disability, and distinct facial features. The ATRIP gene Seckel syndrome NGS genetic test focuses on the ATRIP gene and its association with Seckel syndrome.
Test Components
- Price: AED 4400.0
- 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
Before undergoing the ATRIP Gene Seckel syndrome NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session will be conducted to draw a pedigree chart of family members affected with ATRIP Gene Seckel syndrome NGS Genetic DNA Test gene ATRIP.
Test Details
The ATRIP gene Seckel syndrome NGS genetic test utilizes Next-Generation Sequencing (NGS) technology to analyze the DNA sequence of the ATRIP gene. This test aims to detect any variations or mutations in the ATRIP gene that may be responsible for Seckel syndrome. The ATRIP gene provides instructions for producing a protein called ATR-interacting protein (ATRIP), which is involved in the DNA damage response pathway. Mutations in the ATRIP gene can disrupt this pathway, leading to the development of Seckel syndrome.
The results of the ATRIP gene Seckel syndrome NGS genetic test can provide valuable information for diagnosis, genetic counseling, and management of individuals suspected to have or at risk of developing Seckel syndrome. It can help confirm the presence of ATRIP gene mutations and guide appropriate medical interventions and treatments for affected individuals and their families.
Test Name | ATRIP Gene Seckel 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 | Dysmorphology |
Doctor | Pediatrics |
Test Department: | Genetics |
Pre Test Information | Clinical History of Patient who is going for ATRIP Gene Seckel syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ATRIP Gene Seckel syndrome NGS Genetic DNA Test gene ATRIP |
Test Details |
ATRIP gene Seckel syndrome NGS genetic test is a type of genetic test that focuses on the ATRIP gene and its association with Seckel syndrome. Seckel syndrome is a rare genetic disorder characterized by severe growth retardation, microcephaly (small head size), intellectual disability, and distinct facial features. The ATRIP gene provides instructions for producing a protein called ATR-interacting protein (ATRIP), which is involved in the DNA damage response pathway. Mutations in the ATRIP gene can disrupt this pathway, leading to the development of Seckel syndrome. The NGS (Next-Generation Sequencing) technology used in this genetic test allows for the simultaneous analysis of multiple genes, including the ATRIP gene, to identify potential disease-causing mutations. By analyzing the DNA sequence of the ATRIP gene, this test can detect any variations or mutations that may be responsible for Seckel syndrome. The results of the ATRIP gene Seckel syndrome NGS genetic test can provide valuable information for diagnosis, genetic counseling, and management of individuals suspected to have or at risk of developing Seckel syndrome. It can help confirm the presence of ATRIP gene mutations and guide appropriate medical interventions and treatments for affected individuals and their families. |