Request / Find a Test Tool

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

This tool allows clinical teams to search all of the genomic tests available to patients through the National Testing Directory. From here you can find out more details about each test and information about how to order them. These tests can only be ordered by clinical teams, if you are a patient looking to request a test please speak to your clinical team directly.

Central congenital hypoventilation

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

North Thames GLH, Rare & Inherited Disease Genomic Laboratory
Specimen Reception, Level 5 Barclay House, 37 Queen Square,
London WC1N 3BH

Contact with queries

gos-tr.norththamesgenomics@nhs.net

Supporting documents

Rare Disese WGS Clinician pack

Education resources

n/a

Service updates

n/a

Request form download

RD Non-WGS - Record of Discussion

Consent record

See consent guidance in test request form

Sample requirements

See sample guidance in test request form