Congenital central hypoventilation syndrome (CCHS)

Congenital central hypoventilation syndrome (CCHS) is an inherited pulmonary and neurologic condition that generally causes affected individuals, typically identified in the newborn period, to have adequate ventilation when awake, but low (hypo) ventilation during sleep.  People with CCHS are also at higher risk for other health concerns. Confirming a genetic diagnosis of CCHS can greatly affect a patient’s healthcare management.
Quick Reference
Test Code 1580
Turnaround Time (TAT) 2-4 weeks
Number of Genes 1

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We offer family variant testing at no additional cost

for all blood relatives of patients who undergo full single gene sequencing or multigene panel testing* at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. No-cost testing of blood relatives must be completed within 90 days of the original Ambry report date.

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*excludes Secondary Findings and SNP Array tests

Mutation Detection Rate

Genetic testing of PHOX2B will detect a mutation in >99% of people with CCHS (clinical sensitivity).  Ambry's PHOX2B analysis can detect >99.9% of described mutations in the gene, when present (analytical sensitivity).

Test Description

Our PHOX2B full gene sequence analysis is performed by PCR-based double-stranded automated sequencing in the sense and antisense directions for exons 1-3 of the PHOX2B gene, plus at least 5  bases into the 5’ and 3’ ends of all the introns. Alanine repeat numbers for the commonly-expanded region in exon 3 are determined and reported in all cases.

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