PIK3R1 Gene SHORT syndrome Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
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 PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test gene PIK3R1
Test Details
The PIK3R1 gene is associated with a genetic condition called SHORT syndrome. SHORT syndrome is a rare genetic disorder characterized by short stature, hyperextensibility of joints, ocular abnormalities, Rieger anomaly (affecting the eyes), and teething delay. It is caused by mutations in the PIK3R1 gene, which plays a role in regulating cell growth and division.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of SHORT syndrome, NGS genetic testing can be used to identify mutations in the PIK3R1 gene. This can help confirm a diagnosis of SHORT syndrome and provide information about the specific genetic variant causing the condition.
NGS genetic testing is a powerful tool in diagnosing genetic disorders, as it allows for the analysis of multiple genes in a single test. It can provide more comprehensive and accurate results compared to traditional genetic testing methods. However, it is important to note that NGS testing may not detect all possible genetic variants, and additional testing may be required in some cases.
If you suspect that you or your child may have SHORT syndrome, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate genetic counseling and support.
| Test Name | PIK3R1 Gene SHORT 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 PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PIK3R1 Gene SHORT syndrome NGS Genetic DNA Test gene PIK3R1 |
| Test Details |
The PIK3R1 gene is associated with a genetic condition called SHORT syndrome. SHORT syndrome is a rare genetic disorder characterized by short stature, hyperextensibility of joints, ocular abnormalities, Rieger anomaly (affecting the eyes), and teething delay. It is caused by mutations in the PIK3R1 gene, which plays a role in regulating cell growth and division. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technology to analyze multiple genes simultaneously. In the case of SHORT syndrome, NGS genetic testing can be used to identify mutations in the PIK3R1 gene. This can help confirm a diagnosis of SHORT syndrome and provide information about the specific genetic variant causing the condition. NGS genetic testing is a powerful tool in diagnosing genetic disorders, as it allows for the analysis of multiple genes in a single test. It can provide more comprehensive and accurate results compared to traditional genetic testing methods. However, it is important to note that NGS testing may not detect all possible genetic variants, and additional testing may be required in some cases. If you suspect that you or your child may have SHORT syndrome, it is recommended to consult with a healthcare professional or a genetic counselor who can guide you through the testing process and provide appropriate genetic counseling and support. |
