Clinical Indication ID & Name
Cleidocranial Dysplasia
Test Group
Musculoskeletal
Specialties
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
Supporting documents
Rare Disese WGS Clinician pack
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