DHCR7 Gene Smith-Lemli-Opitz Syndrome Genetic Test
Cost: AED 4400.0
Components: 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 DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR7 Gene Smith-Lemli-Opitz Syndrome NGS Genetic DNA Test gene DHCR7
Test Details
The DHCR7 gene is associated with Smith-Lemli-Opitz Syndrome (SLOS), a rare genetic disorder characterized by multiple congenital anomalies and intellectual disabilities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously.
In the context of SLOS, NGS genetic testing can be used to identify mutations or variations in the DHCR7 gene that may be responsible for the disorder. By analyzing the DNA sequence of the DHCR7 gene, NGS testing can detect various types of genetic changes, including single nucleotide variants (SNVs), small insertions or deletions (indels), and larger structural variations. This allows for a comprehensive assessment of the genetic variations in the DHCR7 gene that may contribute to the development of SLOS.
NGS genetic testing for SLOS can be performed on a blood or saliva sample. The test results can help confirm a diagnosis of SLOS in individuals with clinical symptoms and can also provide information about the specific mutation or variation in the DHCR7 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options for individuals with SLOS.
Test Name | DHCR7 Gene Smith-Lemli-Opitz 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 DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with DHCR7 Gene Smith-Lemli-Opitz syndrome NGS Genetic DNA Test gene DHCR7 |
Test Details |
The DHCR7 gene is associated with Smith-Lemli-Opitz syndrome (SLOS), a rare genetic disorder characterized by multiple congenital anomalies and intellectual disabilities. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously. In the context of SLOS, NGS genetic testing can be used to identify mutations or variations in the DHCR7 gene that may be responsible for the disorder. By analyzing the DNA sequence of the DHCR7 gene, NGS testing can detect various types of genetic changes, including single nucleotide variants (SNVs), small insertions or deletions (indels), and larger structural variations. This allows for a comprehensive assessment of the genetic variations in the DHCR7 gene that may contribute to the development of SLOS. NGS genetic testing for SLOS can be performed on a blood or saliva sample. The test results can help confirm a diagnosis of SLOS in individuals with clinical symptoms and can also provide information about the specific mutation or variation in the DHCR7 gene. This information can be useful for genetic counseling, family planning, and potentially guiding treatment options for individuals with SLOS. |