Clinical Indication ID & Name
Skeletal dysplasia
Test Group
Musculoskeletal
Specialties
Test code
R104.3
Test name
N/A
Target genes
Skeletal dysplasia (309)
Test scope
n/a
Test method/ technology
WGS
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of a likely monogenic skeletal dysplasia
Patients with suspected severe congenital autosomal recessive malignant osteopetrosis where rapid genetic diagnosis is required for urgent patient management (e.g. curative stem cell transplantation) are eligible for urgent testing via R104.4
Test code
R104.4
Test name
N/A
Target genes
Osteopetrosis (943)
Test scope
n/a
Test method/ technology
WES or Large Panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of a likely monogenic skeletal dysplasia
Patients with suspected severe congenital autosomal recessive malignant osteopetrosis where rapid genetic diagnosis is required for urgent patient management (e.g. curative stem cell transplantation) are eligible for urgent testing via R104.4
Commissioning group
Specialised
Overlapping idications
R147 Growth failure in early childhood, should be considered if overlapping features are present
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