ESCO2 Gene SC Phocomelia Syndrome Genetic Test
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 SC Phocomelia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESCO2 Gene SC Phocomelia syndrome NGS Genetic DNA Test gene ESCO2.
Test Details
ESCO2 gene SC phocomelia syndrome NGS genetic test is a type of genetic test that specifically looks for mutations or changes in the ESCO2 gene. This gene is associated with SC phocomelia syndrome, which is a rare genetic disorder characterized by limb abnormalities and other developmental defects.
NGS, or next-generation sequencing, is a high-throughput sequencing technology that allows for the rapid and efficient sequencing of multiple genes or even the entire genome. In the context of this genetic test, NGS is used to analyze the ESCO2 gene for any mutations or variations that may be present.
By identifying mutations in the ESCO2 gene, this test can help diagnose SC phocomelia syndrome and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder.
It’s important to note that this genetic test is typically ordered by a healthcare provider who specializes in genetics or genetic counseling. The results of the test should be interpreted by a qualified healthcare professional who can provide appropriate guidance and support based on the individual’s specific situation.
Test Name | ESCO2 Gene SC Phocomelia 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 SC Phocomelia syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ESCO2 Gene SC Phocomelia syndrome NGS Genetic DNA Test gene ESCO2 |
Test Details |
ESCO2 gene SC phocomelia syndrome NGS genetic test is a type of genetic test that specifically looks for mutations or changes in the ESCO2 gene. This gene is associated with SC phocomelia syndrome, which is a rare genetic disorder characterized by limb abnormalities and other developmental defects. NGS, or next-generation sequencing, is a high-throughput sequencing technology that allows for the rapid and efficient sequencing of multiple genes or even the entire genome. In the context of this genetic test, NGS is used to analyze the ESCO2 gene for any mutations or variations that may be present. By identifying mutations in the ESCO2 gene, this test can help diagnose SC phocomelia syndrome and provide valuable information for genetic counseling and management of the condition. It can also be used for carrier testing in individuals with a family history of the disorder. It’s important to note that this genetic test is typically ordered by a healthcare provider who specializes in genetics or genetic counseling. The results of the test should be interpreted by a qualified healthcare professional who can provide appropriate guidance and support based on the individual’s specific situation. |