SKI Gene Shprintzen-Goldberg Syndrome Genetic Test
Test Name: SKI Gene Shprintzen-Goldberg Syndrome Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 SKI Gene Shprintzen-Goldberg Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SKI Gene Shprintzen-Goldberg Syndrome NGS Genetic DNA Test gene SKI
Test Details
The SKI Gene Shprintzen-Goldberg Syndrome NGS genetic test is a type of genetic test that is used to identify mutations or variations in the SKI gene that are associated with Shprintzen-Goldberg Syndrome (SGS). SGS is a rare genetic disorder characterized by various physical and developmental abnormalities, including skeletal abnormalities, craniofacial features, cardiovascular defects, and intellectual disability.
Next-generation sequencing (NGS) technology is utilized in this genetic test to analyze the entire coding region of the SKI gene. NGS allows for the simultaneous analysis of multiple genes or the entire exome, which can provide a more comprehensive understanding of the genetic variations associated with SGS.
By identifying mutations or variations in the SKI gene, this test can help in confirming a diagnosis of SGS, providing genetic counseling to affected individuals and their families, and potentially guiding treatment decisions. It is typically performed by collecting a blood or saliva sample from the individual undergoing testing, which is then sent to a specialized laboratory for analysis.
The results of the genetic test can help healthcare professionals in managing and treating individuals with Shprintzen-Goldberg Syndrome.
Test Name | SKI Gene Shprintzen-Goldberg 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 SKI Gene Shprintzen-Goldberg syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SKI Gene Shprintzen-Goldberg syndrome NGS Genetic DNA Test gene SKI |
Test Details |
The SKI gene Shprintzen-Goldberg syndrome NGS genetic test is a type of genetic test that is used to identify mutations or variations in the SKI gene that are associated with Shprintzen-Goldberg syndrome (SGS). SGS is a rare genetic disorder characterized by various physical and developmental abnormalities, including skeletal abnormalities, craniofacial features, cardiovascular defects, and intellectual disability. Next-generation sequencing (NGS) technology is utilized in this genetic test to analyze the entire coding region of the SKI gene. NGS allows for the simultaneous analysis of multiple genes or the entire exome, which can provide a more comprehensive understanding of the genetic variations associated with SGS. By identifying mutations or variations in the SKI gene, this test can help in confirming a diagnosis of SGS, providing genetic counseling to affected individuals and their families, and potentially guiding treatment decisions. It is typically performed by collecting a blood or saliva sample from the individual undergoing testing, which is then sent to a specialized laboratory for analysis. The results of the genetic test can help healthcare professionals in managing and treating individuals with Shprintzen-Goldberg syndrome. |