Clinical Indication ID & Name
Central congenital hypoventilation
Test Group
Respiratory
Specialties
Test code
R333.1
Test name
N/A
Target genes
PHOX2B STR
Test scope
n/a
Test method/ technology
STR testing
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of congenital central hypoventilation syndrome:
1. Central alveolar hypoventilation, AND
2. Absence of primary lung, cardiac or neuromuscular cause or identifiable brainstem lesion, WITH OR WITHOUT the following additional PHOX2B-reated features:
a. Hirschsprung disease, OR
b. Neuroblastoma or other neural crest tumour, OR
c. Autonomic dysfunction, for example affecting the cardiovascular system, gastrointestinal tract, sweating or temperature control
Test code
R333.2
Test name
N/A
Target genes
PHOX2B
Test scope
n/a
Test method/ technology
Single gene sequencing >=10 amplicons
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of congenital central hypoventilation syndrome:
1. Central alveolar hypoventilation, AND
2. Absence of primary lung, cardiac or neuromuscular cause or identifiable brainstem lesion, WITH OR WITHOUT the following additional PHOX2B-reated features:
a. Hirschsprung disease, OR
b. Neuroblastoma or other neural crest tumour, OR
c. Autonomic dysfunction, for example affecting the cardiovascular system, gastrointestinal tract, sweating or temperature control
Test code
R333.3
Test name
N/A
Target genes
PHOX2B
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features suggestive of congenital central hypoventilation syndrome:
1. Central alveolar hypoventilation, AND
2. Absence of primary lung, cardiac or neuromuscular cause or identifiable brainstem lesion, WITH OR WITHOUT the following additional PHOX2B-reated features:
a. Hirschsprung disease, OR
b. Neuroblastoma or other neural crest tumour, OR
c. Autonomic dysfunction, for example affecting the cardiovascular system, gastrointestinal tract, sweating or temperature control
Commissioning group
Specialised
Overlapping idications
n/a
Address for samples/request forms
North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH
Contact with queries
Supporting documents
n/a
Education resources
n/a
Service updates
n/a
Request form download
Consent record
See consent guidance in test request form
Sample requirements
See sample guidance in test request form