Test Central Hypoventilation Syndrome - Congenital With or Without Hirschsprung Disease
Description
- Idiopathic congenital central hypoventilation syndrome is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular, lung or cardiac disease, or an identifiable brainstem lesion. Patients breathe normally while awake, but hypoventilate with normal respiratory rates and shallow breathing during sleep; more severely affected patients hypoventilate both awake and asleep. These patients typically present in the first hours of life with cyanosis and increased carbon dioxide during sleep. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia.
- Genes:
- PHOX2B
- Disorders:
- Hypoventilation Syndrome
- Clinical Utility:
- Confirmation of a clinical diagnosis, Carrier testing in unaffected family members
Methods
- Description:
- Delivery Time:
- 10 days
- Sample:
- 2-5 Ml Venous Blood Sample / DNA sample
- Alternative:
- Description:
- Delivery Time:
- 10 days
- Sample:
- 2-5 Ml Blood Sample
- Alternative:
- Ops!
- No files are available!