GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 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 GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GLE1 Gene Lethal Congenital Contracture Syndrome Type 1 NGS Genetic DNA Test gene GLE1.
Test Details
The GLE1 gene is associated with a condition called lethal congenital contracture syndrome type 1 (LCCS1). LCCS1 is a rare genetic disorder characterized by multiple joint contractures (abnormal shortening of muscles or tendons around joints), weak muscle tone (hypotonia), and respiratory failure, often leading to death shortly after birth.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of LCCS1, NGS genetic testing can be used to identify mutations or variations in the GLE1 gene that may be causing the disorder. This testing can help with confirming a diagnosis, providing information about the specific genetic variant involved, and informing genetic counseling and family planning decisions.
It’s important to note that NGS genetic testing is typically performed in specialized laboratories and requires a healthcare professional’s order. The results of the test should be interpreted by a qualified geneticist or genetic counselor to provide accurate and meaningful information.
Test Name | GLE1 Gene Lethal congenital contracture syndrome type 1 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 GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GLE1 Gene Lethal congenital contracture syndrome type 1 NGS Genetic DNA Test gene GLE1 |
Test Details |
The GLE1 gene is associated with a condition called lethal congenital contracture syndrome type 1 (LCCS1). LCCS1 is a rare genetic disorder characterized by multiple joint contractures (abnormal shortening of muscles or tendons around joints), weak muscle tone (hypotonia), and respiratory failure, often leading to death shortly after birth. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. In the context of LCCS1, NGS genetic testing can be used to identify mutations or variations in the GLE1 gene that may be causing the disorder. This testing can help with confirming a diagnosis, providing information about the specific genetic variant involved, and informing genetic counseling and family planning decisions. It’s important to note that NGS genetic testing is typically performed in specialized laboratories and requires a healthcare professional’s order. The results of the test should be interpreted by a qualified geneticist or genetic counselor to provide accurate and meaningful information. |