ESCO2 Gene Roberts Syndrome Genetic Test
Introduction
The ESCO2 gene Roberts syndrome NGS genetic test is a genetic test used to detect mutations or variations in the ESCO2 gene, which is associated with Roberts syndrome. Roberts syndrome is a rare genetic disorder characterized by limb and facial abnormalities, growth retardation, and intellectual disability.
Test Details
The ESCO2 gene Roberts syndrome NGS genetic test is conducted using Next-Generation Sequencing (NGS) technology. NGS is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. This technology enables the detection of various types of genetic variations, including single nucleotide variants, insertions, deletions, and structural rearrangements.
Components and Price
The test costs 4400.0 AED and requires a sample of either blood, extracted DNA, or one drop of blood on an FTA card.
Report Delivery
The test results are typically delivered within 3 to 4 weeks.
Method
The ESCO2 gene Roberts syndrome NGS genetic test utilizes NGS technology for sequencing and analysis.
Test Type
The test falls under the category of Dysmorphology.
Doctor and Test Department
The test is performed by a Pediatrics doctor in the Genetics department.
Pre Test Information
A clinical history of the patient is required before undergoing the ESCO2 gene Roberts syndrome NGS genetic test. Additionally, a genetic counseling session is recommended to draw a pedigree chart of family members affected by the ESCO2 gene mutation.
Test Purpose
The ESCO2 gene Roberts syndrome NGS genetic test helps confirm a diagnosis of Roberts syndrome in individuals with characteristic clinical features. It can also identify carriers of the ESCO2 gene mutation and be used for prenatal testing in families with a known ESCO2 gene mutation to determine the risk of having a child with Roberts syndrome.
Genetic Counseling
Genetic counseling is recommended before and after undergoing the ESCO2 gene Roberts syndrome NGS genetic test. This allows individuals and families to discuss the implications of the test results and receive support.
| Test Name | ESCO2 Gene Roberts 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 ESCO2 Gene Roberts syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESCO2 Gene Roberts syndrome NGS Genetic DNA Test gene ESCO2 |
| Test Details |
ESCO2 gene Roberts syndrome NGS genetic test is a genetic test that is used to detect mutations or variations in the ESCO2 gene, which is associated with Roberts syndrome. Roberts syndrome is a rare genetic disorder characterized by limb and facial abnormalities, growth retardation, and intellectual disability. NGS stands for Next-Generation Sequencing, which is a high-throughput DNA sequencing technology that allows for the simultaneous sequencing of multiple genes or the entire genome. This technology enables the detection of various types of genetic variations, including single nucleotide variants, insertions, deletions, and structural rearrangements. The ESCO2 gene Roberts syndrome NGS genetic test involves collecting a sample of DNA, typically through a blood sample or buccal swab. The DNA is then sequenced using NGS technology, and the resulting data is analyzed to identify any mutations or variations in the ESCO2 gene. The test can help confirm a diagnosis of Roberts syndrome in individuals with characteristic clinical features, as well as identify carriers of the ESCO2 gene mutation. It can also be used for prenatal testing in families with a known ESCO2 gene mutation to determine the risk of having a child with Roberts syndrome. Genetic counseling is usually recommended before and after undergoing the ESCO2 gene Roberts syndrome NGS genetic test to discuss the implications of the test results and provide support to individuals and families. |
