HESX1 Gene Septooptic dysplasia Genetic Test
Components: HESX1 Gene Septooptic dysplasia Genetic Test
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 HESX1 Gene Septooptic dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HESX1 Gene Septooptic dysplasia NGS Genetic DNA Test gene HESX1
Test Details
The HESX1 gene is a gene that provides instructions for making a protein called homeobox protein HESX1. This protein is involved in the development of the pituitary gland and other structures in the brain. Mutations in the HESX1 gene can cause a condition called septooptic dysplasia.
Septooptic dysplasia, also known as de Morsier syndrome, is a rare congenital disorder characterized by the underdevelopment or absence of the septum pellucidum (a thin membrane that separates the lateral ventricles of the brain), optic nerve hypoplasia (underdevelopment of the optic nerves), and hormone deficiencies.
Individuals with septooptic dysplasia may experience visual impairments, hormone deficiencies (such as growth hormone deficiency and thyroid hormone deficiency), and developmental delays.
NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. In the case of septooptic dysplasia, NGS genetic testing can identify mutations or variations in the HESX1 gene that may be responsible for the condition. This testing can help with diagnosis, genetic counseling, and potentially informing treatment options for affected individuals and their families.
| Test Name | HESX1 Gene Septooptic dysplasia 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 HESX1 Gene Septooptic dysplasia NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with HESX1 Gene Septooptic dysplasia NGS Genetic DNA Test gene HESX1 |
| Test Details |
The HESX1 gene is a gene that provides instructions for making a protein called homeobox protein HESX1. This protein is involved in the development of the pituitary gland and other structures in the brain. Mutations in the HESX1 gene can cause a condition called septooptic dysplasia. Septooptic dysplasia, also known as de Morsier syndrome, is a rare congenital disorder characterized by the underdevelopment or absence of the septum pellucidum (a thin membrane that separates the lateral ventricles of the brain), optic nerve hypoplasia (underdevelopment of the optic nerves), and hormone deficiencies. Individuals with septooptic dysplasia may experience visual impairments, hormone deficiencies (such as growth hormone deficiency and thyroid hormone deficiency), and developmental delays. NGS (Next-Generation Sequencing) genetic testing is a type of genetic testing that can analyze multiple genes simultaneously, providing a comprehensive assessment of an individual’s genetic makeup. In the case of septooptic dysplasia, NGS genetic testing can identify mutations or variations in the HESX1 gene that may be responsible for the condition. This testing can help with diagnosis, genetic counseling, and potentially informing treatment options for affected individuals and their families. |
