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GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test Cost

Original price was: 5,600 د.إ.Current price is: 4,400 د.إ.

-21%

**GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test**

The GDNF gene plays a crucial role in the development and maintenance of the nervous system. Mutations in this gene can lead to Central Hypoventilation Syndrome (CHS), a rare congenital condition characterized by the failure of automatic control of breathing. This means affected individuals may not breathe deeply or rapidly enough, particularly during sleep, leading to insufficient oxygen levels and a buildup of carbon dioxide in the blood.

The GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test is a sophisticated diagnostic tool designed to detect mutations in the GDNF gene that are associated with CHS. Conducted at DNA Labs UAE, this test is pivotal for early diagnosis and management of the condition, helping to guide treatment decisions and support families in understanding the genetic underpinnings of CHS.

The test involves collecting a DNA sample, typically through a blood draw or a cheek swab, which is then analyzed in the laboratory for specific genetic alterations in the GDNF gene. Early diagnosis through genetic testing can be life-saving, allowing for timely interventions such as ventilatory support during sleep or in severe cases, even during the day.

The cost of the GDNF Gene Central Hypoventilation Syndrome Congenital Genetic Test at DNA Labs UAE is 4400 AED. While the price may seem significant, the value of the information it provides cannot be overstated for families affected by CHS. It not only offers a definitive diagnosis but also helps in assessing the risk for future children in the family to inherit the condition.

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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.