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PHOX2B Gene Central Hypoventilation Syndrome with or Without Hirschsprung Disease Genetic Test Cost

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

-21%

The “PHOX2B Gene Central Hypoventilation Syndrome with or Without Hirschsprung Disease Genetic Test” is a specialized diagnostic assessment conducted at DNA Labs UAE. This genetic test is specifically designed to identify mutations in the PHOX2B gene, which are known to cause Congenital Central Hypoventilation Syndrome (CCHS), a rare disorder affecting the autonomic control of breathing, and in some cases, is also associated with Hirschsprung disease, a condition that affects the large intestine and causes problems with passing stool.

The test, priced at 4400 AED, involves collecting a DNA sample, typically through a blood draw or cheek swab, and analyzing it for specific genetic alterations in the PHOX2B gene. Identifying these mutations can be crucial for the accurate diagnosis, management, and treatment planning for affected individuals, providing vital information on the conditions’ progression and the best course of action for patient care.

DNA Labs UAE, known for its state-of-the-art facilities and expert team, ensures high precision and reliability in the test results, making it a trusted choice for patients and healthcare providers seeking comprehensive genetic testing services.

Home  Sample collection service available

  • 100% accuaret Test Results
  • Ranked as Most trusted Genetic DNA Lab
  • This test is not intended for medical diagnosis or treatment
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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.

SKU: TEST-4029 Category:

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