PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test
At DNA Labs UAE, we offer the PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test. This test helps in the diagnosis of a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s Curse. CCHS affects the automatic control of breathing, leading to hypoventilation during sleep or wakefulness. It can occur with or without Hirschsprung disease, which affects the large intestine and causes bowel movement problems.
Our NGS (Next-Generation Sequencing) technology allows us to analyze multiple genes simultaneously, including the PHOX2B gene. By identifying mutations or variations in this gene and other relevant genes, we can provide an accurate diagnosis, genetic counseling, and potentially guide treatment decisions for individuals with CCHS and Hirschsprung disease.
Test Components and Price
Test Name: PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test
Components: NGS Technology
Price: 4400.0 AED
Sample Condition and Report Delivery
Sample Condition: Blood or Extracted DNA or One drop Blood on FTA Card
Report Delivery: 3 to 4 Weeks
Test Type and Doctor
Test Type: Dysmorphology
Doctor: Pediatrics
Test Department
Test Department: Genetics
Pre Test Information
Before undergoing the PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test, it is important to provide the clinical history of the patient. Additionally, a genetic counseling session may be conducted to draw a pedigree chart of family members affected by PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test gene PHOX2B.
Test Details
The PHOX2B gene is associated with Congenital Central Hypoventilation Syndrome (CCHS) or Ondine’s Curse. This syndrome affects breathing control, leading to hypoventilation during sleep or wakefulness. It can occur with or without Hirschsprung disease, which affects the large intestine and causes bowel movement problems. Our NGS genetic testing utilizes advanced sequencing technology to analyze multiple genes, including the PHOX2B gene, to identify mutations or variations that may be causing or contributing to CCHS and Hirschsprung disease. This test can help with accurate diagnosis, genetic counseling, and guide treatment decisions.
| Test Name | PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease 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 PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test. A Genetic Counselling session to draw a pedigree chart of family members affected with PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test gene PHOX2B |
| Test Details |
The PHOX2B gene is associated with a rare genetic disorder called Congenital Central Hypoventilation Syndrome (CCHS), also known as Ondine’s Curse. This syndrome affects the automatic control of breathing, leading to hypoventilation (reduced breathing) during sleep or in some cases, even during wakefulness. CCHS can occur with or without Hirschsprung disease, which is a condition that affects the large intestine and causes problems with bowel movements. The combination of CCHS and Hirschsprung disease is sometimes referred to as Hirschsprung-associated CCHS. NGS (Next-Generation Sequencing) genetic testing is a type of genetic test that uses advanced sequencing technology to analyze multiple genes simultaneously. In the context of CCHS and Hirschsprung disease, NGS genetic testing can be used to identify mutations or variations in the PHOX2B gene and other relevant genes that may be causing or contributing to the conditions. By identifying specific genetic changes, NGS genetic testing can help with accurate diagnosis, genetic counseling, and potentially guide treatment decisions for individuals with CCHS and Hirschsprung disease. |
