Short Description

NGS genetic DNA test detecets for variant and mutation detection in PHOX2B gene for Central hypoventilation syndrome with or without Hirschsprung disease

PreTest 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

Detail Description

PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease NGS Genetic DNA Test Cost

PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease is a rare genetic disorder that affects the autonomic nervous system. It is characterized by the inability to breathe normally while asleep, leading to low levels of oxygen in the blood. This condition is also known as congenital central hypoventilation syndrome (CCHS) or Ondine's curse.

Symptoms of PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease

The symptoms of PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease vary depending on the severity of the condition. The most common symptom is difficulty breathing while asleep, which can lead to sleep apnea and other respiratory problems. Other symptoms may include:

• Difficulty breathing during the day
• Low blood pressure
• Difficulty regulating body temperature
• Difficulty swallowing
• Constipation

Diagnosis of PHOX2B Gene Central Hypoventilation Syndrome with or without Hirschsprung Disease

The diagnosis of PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease is typically made through genetic testing. Specifically, a test for the PHOX2B gene mutation can confirm the presence of the condition. Other tests, such as a sleep study, may also be used to evaluate breathing patterns and oxygen levels.

NGS Genetic DNA Test Cost at DNA Labs India

The cost of NGS genetic DNA testing for PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease at DNA Labs India is INR 20,000. This test uses next-generation sequencing technology to analyze DNA samples and identify any mutations or abnormalities in the PHOX2B gene. Results from this test can help diagnose the condition and guide treatment options.

Conclusion

If you or a loved one are experiencing symptoms of PHOX2B gene central hypoventilation syndrome with or without Hirschsprung disease, it is important to seek medical attention and consider genetic testing. At DNA Labs India, we offer NGS genetic DNA testing for this condition at an affordable cost. Contact us today to learn more.

Before getting tested ask for Raw Data, FASTQ, and VCF files along with clinical test report from DNA Testing Lab. DNA Labs India is the Only lab that is transparent and will share Raw Data, FASTQ, and VCF files along with the conclusive clinical report for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease NGS Genetic DNA Test