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

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

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