Order or find a test

The National Genomic Test Directories specify which genomic tests are commissioned by the NHS in England, to be delivered by Genomic Laboratory Hubs.

Clinical Indication ID & Name

R333

Central congenital hypoventilation

Test Group

Respiratory

Specialties

Clinical Genetics Neonatology Respiratory Medicine Neurology

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

Clinical Genetics & Genomics Laboratory
Royal Brompton Hospital
2nd (Ground) Floor, Sydney Wing
Sydney Street
London SW3 6NP

Contact with queries

geneticslab@rbht.nhs.uk

Supporting documents

n/a

Education resources

n/a

Turn around times

All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/

Request form download

Cardiology and Respiratory Order Form Record of Discussion Form

Consent record

See consent guidance in test request form

Sample requirements

Sample Requirements Each sample must be sent labelled with 3 patient identifiers and must state the sample type clearly on the sample container. Sample Rejection Samples may be rejected for the following reasons: 1. Samples and request form do not show at least three identical patient identifiers 2. The sample is in the incorrect collection media 3. The request form is not sufficiently completed 4. The sample is not of sufficient volume 5. The sample is too old