Congenital central hypoventilation syndrome (CCHS) - Ambry Genetics

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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.

Congenital Central Hypoventilation Syndrome | PHOX2B

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.

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.

Genes analyzed

1580

Congenital central hypoventilation syndrome

2-4 weeks

1 Gene

Congenital central hypoventilation syndrome

1 Gene

PHOX2B

Consent

Patient

Understanding Your Results

Private: Congenital Central Hypoventilation Syndrome (CCHS)

Private: Positive Congenital Central Hypoventilation Syndrome (CCHS)

Private: VUS Congenital Central Hypoventilation Syndrome (CCHS)

Mutation Detection Rate

>99%

Genetic testing of PHOX2B

will detect a mutation in people with CCHS (clinical sensitivity).*

>99.9%

Ambry's PHOX2B analysis

can detect the 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.

We offer family variant testing at no additional cost

We offer family variant testing for all blood relatives of patients who undergo full single gene sequencing, multigene panel testing, exome testing, or whole genome testing at Ambry Genetics and are found to have a pathogenic or likely pathogenic variant. Testing must be completed within 180 days of the original report date. Whenever possible, more closely related relatives should be tested before more distant relatives. If you or a family member are interested in learning more about our family testing program or when family testing may be clinically indicated, please contact us or your provider for additional information. Note that Ambry can only provide such family testing services to patients receiving medical care in the U.S or US territories.