PHOX2B - congenital central hypoventilation syndrome with or without Hirschsprung disease

This test is available for the following conditions:

  • Conditions > Lung diseases > Congenital central hypoventilation syndrome with or without Hirschsprung disease

This product is also part of the following panels:

  • WES hereditary cancer (100.0% *)
  • WES Mendelian inherited disorders (100.0% *)

* % of the coding region of this gene has a coverage of >20x. (Without % information : This is a non-coding gene for which coverage statistics could not be determined)

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 613013
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 477

Gene

PHOX2B - congenital central hypoventilation syndrome with or without Hirschsprung disease

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 477

PHOX2B - congenital central hypoventilation syndrome with or without Hirschsprung disease



€ 477