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.

Cleidocranial Dysplasia

Clinical Indication ID & Name

R415

Cleidocranial Dysplasia

Test Group

Musculoskeletal

Test code

R415.1

Test name

N/A

Target genes

RUNX2

Test scope

n/a

Test method/ technology

Single gene sequencing <10 amplicons

Optimal Family Structure

n/a

Eligibility Criteria

Radiographic and/or clinical features of CCD
CCD features include:
• Large anterior fontanelle
• hypoplastic clavicles
• macrocephaly
• dental features (permanent primary dentition, supernumerary teeth)

Test code

R415.2

Test name

N/A

Target genes

RUNX2

Test scope

n/a

Test method/ technology

MLPA or equivalent

Optimal Family Structure

n/a

Eligibility Criteria

Radiographic and/or clinical features of CCD
CCD features include:
• Large anterior fontanelle
• hypoplastic clavicles
• macrocephaly
• dental features (permanent primary dentition, supernumerary teeth)

Commissioning group

Specialised

Overlapping idications

• R104 Skeletal dysplasia

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

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