GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test
Test Name: GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test
Components: Blood or Extracted DNA or One drop Blood on FTA Card
Price: 4400.0 AED
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 GDNF Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDNF Gene Central Hypoventilation Syndrome Congenital NGS Genetic DNA Test gene GDNF
Test Details
GDNF Gene Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the autonomic nervous system, specifically the control of breathing. It is also known as Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. CCHS is typically caused by mutations in the GDNF gene, which is responsible for producing a protein called glial cell line-derived neurotrophic factor. This protein plays a crucial role in the development and function of neurons in the autonomic nervous system, including those involved in controlling breathing.
Individuals with CCHS have difficulty regulating their breathing during sleep and may also experience respiratory problems during wakefulness. They may have shallow or slow breathing, especially during sleep, leading to low levels of oxygen and high levels of carbon dioxide in the blood. This can result in symptoms such as cyanosis (bluish discoloration of the skin), excessive sleepiness, and poor growth.
NGS (Next-Generation Sequencing) Genetic Testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of genetic mutations or variations that may be responsible for a particular disorder, such as CCHS caused by GDNF gene mutations. NGS Genetic Testing for CCHS can help confirm a diagnosis and identify specific mutations in the GDNF gene.
This information is valuable for genetic counseling, as it can provide insights into the inheritance pattern of the disorder and help determine the risk of passing it on to future generations. Overall, NGS Genetic Testing for CCHS caused by GDNF gene mutations can aid in the diagnosis, management, and understanding of this rare genetic disorder. It can also contribute to ongoing research efforts aimed at developing better treatments and interventions for individuals affected by CCHS.
Test Name | GDNF Gene Central hypoventilation syndrome congenital 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 GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with GDNF Gene Central hypoventilation syndrome, congenital NGS Genetic DNA Test gene GDNF |
Test Details |
GDNF Gene Central Hypoventilation Syndrome (CCHS) is a rare genetic disorder that affects the autonomic nervous system, specifically the control of breathing. It is also known as Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. CCHS is typically caused by mutations in the GDNF gene, which is responsible for producing a protein called glial cell line-derived neurotrophic factor. This protein plays a crucial role in the development and function of neurons in the autonomic nervous system, including those involved in controlling breathing. Individuals with CCHS have difficulty regulating their breathing during sleep and may also experience respiratory problems during wakefulness. They may have shallow or slow breathing, especially during sleep, leading to low levels of oxygen and high levels of carbon dioxide in the blood. This can result in symptoms such as cyanosis (bluish discoloration of the skin), excessive sleepiness, and poor growth. NGS (Next-Generation Sequencing) Genetic Testing is a type of genetic testing that uses advanced sequencing technologies to analyze multiple genes simultaneously. It allows for the detection of genetic mutations or variations that may be responsible for a particular disorder, such as CCHS caused by GDNF gene mutations. NGS Genetic Testing for CCHS can help confirm a diagnosis and identify specific mutations in the GDNF gene. This information is valuable for genetic counseling, as it can provide insights into the inheritance pattern of the disorder and help determine the risk of passing it on to future generations. Overall, NGS Genetic Testing for CCHS caused by GDNF gene mutations can aid in the diagnosis, management, and understanding of this rare genetic disorder. It can also contribute to ongoing research efforts aimed at developing better treatments and interventions for individuals affected by CCHS. |