ERCC6 Gene De Sanctis-Cacchione syndrome Genetic Test
Cost: AED 4400.0
Test Components: ERCC6 Gene De Sanctis-Cacchione syndrome Genetic Test
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 ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test gene ERCC6
Test Details
ERCC6 gene, also known as Excision Repair Cross-Complementation Group 6, is associated with a rare genetic disorder called De Sanctis-Cacchione syndrome (also known as Cockayne syndrome type II). This syndrome is characterized by severe growth and developmental abnormalities, intellectual disability, photosensitivity, and premature aging.
Next-generation sequencing (NGS) is a genetic testing technique that allows for the simultaneous analysis of multiple genes, including the ERCC6 gene. NGS can identify specific mutations or variants within the ERCC6 gene that may be responsible for causing De Sanctis-Cacchione syndrome.
The NGS genetic test for ERCC6 gene mutations involves obtaining a DNA sample from the individual undergoing testing, typically through a blood sample. The DNA is then sequenced using NGS technology to identify any genetic variations or mutations within the ERCC6 gene.
This genetic test can provide valuable information for diagnosing De Sanctis-Cacchione syndrome and confirming the presence of mutations in the ERCC6 gene. It can also help with genetic counseling and family planning decisions for individuals and families affected by this syndrome.
It’s important to note that genetic testing for De Sanctis-Cacchione syndrome should be done under the guidance of a healthcare professional or genetic counselor, who can provide appropriate counseling and interpretation of the test results.
| Test Name | ERCC6 Gene De Sanctis-Cacchione 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 ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with ERCC6 Gene De Sanctis-Cacchione syndrome NGS Genetic DNA Test gene ERCC6 |
| Test Details |
ERCC6 gene, also known as Excision Repair Cross-Complementation Group 6, is associated with a rare genetic disorder called De Sanctis-Cacchione syndrome (also known as Cockayne syndrome type II). This syndrome is characterized by severe growth and developmental abnormalities, intellectual disability, photosensitivity, and premature aging. Next-generation sequencing (NGS) is a genetic testing technique that allows for the simultaneous analysis of multiple genes, including the ERCC6 gene. NGS can identify specific mutations or variants within the ERCC6 gene that may be responsible for causing De Sanctis-Cacchione syndrome. The NGS genetic test for ERCC6 gene mutations involves obtaining a DNA sample from the individual undergoing testing, typically through a blood sample. The DNA is then sequenced using NGS technology to identify any genetic variations or mutations within the ERCC6 gene. This genetic test can provide valuable information for diagnosing De Sanctis-Cacchione syndrome and confirming the presence of mutations in the ERCC6 gene. It can also help with genetic counseling and family planning decisions for individuals and families affected by this syndrome. It’s important to note that genetic testing for De Sanctis-Cacchione syndrome should be done under the guidance of a healthcare professional or genetic counselor, who can provide appropriate counseling and interpretation of the test results. |
