SETBP1 Gene Schinzel-Giedion midface retraction syndrome Genetic Test
Test Name: SETBP1 Gene Schinzel-Giedion midface retraction 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 SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test gene SETBP1
Test Details
The SETBP1 gene is associated with a rare genetic disorder called Schinzel-Giedion midface retraction syndrome. This syndrome is characterized by distinctive facial features, intellectual disability, seizures, and other physical abnormalities.
NGS (Next-Generation Sequencing) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of Schinzel-Giedion midface retraction syndrome, NGS can be used to identify mutations or variations in the SETBP1 gene that may be responsible for the disorder.
NGS genetic testing involves sequencing the DNA of an individual to identify any changes or variations in the SETBP1 gene. This can help in confirming a diagnosis of Schinzel-Giedion midface retraction syndrome and providing information about the specific genetic variant present in the individual.
It is important to note that genetic testing should be done under the guidance of a medical professional or genetic counselor who can provide appropriate counseling and interpretation of the results.
| Test Name | SETBP1 Gene Schinzel-Giedion midface retraction 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 SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with SETBP1 Gene Schinzel-Giedion midface retraction syndrome NGS Genetic DNA Test gene SETBP1 |
| Test Details |
The SETBP1 gene is associated with a rare genetic disorder called Schinzel-Giedion midface retraction syndrome. This syndrome is characterized by distinctive facial features, intellectual disability, seizures, and other physical abnormalities. NGS (Next-Generation Sequencing) is a genetic testing method that can be used to analyze multiple genes simultaneously. In the case of Schinzel-Giedion midface retraction syndrome, NGS can be used to identify mutations or variations in the SETBP1 gene that may be responsible for the disorder. NGS genetic testing involves sequencing the DNA of an individual to identify any changes or variations in the SETBP1 gene. This can help in confirming a diagnosis of Schinzel-Giedion midface retraction syndrome and providing information about the specific genetic variant present in the individual. It is important to note that genetic testing should be done under the guidance of a medical professional or genetic counselor who can provide appropriate counseling and interpretation of the results. |
