Test & specimen information
PHOX2B testing
Overview
This test looks for the poly-A expansion repeat in PHOX2B which is known to cause Congenital Central Hypoventilation Syndrome (CCHS). This rare disorder is characterised by abnormal control over breathing, especially during sleep, resulting in hypoventilation.
Test type
Polymerase chain reaction (PCR)
Sanger sequencing
Genes tested
Turnaround time
~3 weeks (expedited)
Cost
$340
Notes
Further testing for sequence variants in the PHOX2B gene is available separately via exome sequencing or whole genome sequencing with the Central Hypoventilation gene panel.
For urgent cases, please contact us to notify the laboratory of incoming samples.