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

Ordering Options

We now offer single site analysis (SSA) at no additional cost to family members

following single gene or panel testing* of the first family member (proband) within 90 days of the original Ambry report date.

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*excludes Exome 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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