Clinical Indication ID & Name
Osteogenesis imperfecta
Test Group
Musculoskeletal
Specialties
Test code
R102.1
Test name
N/A
Target genes
Osteogenesis imperfecta (196)
Test scope
n/a
Test method/ technology
WES or Medium Panel
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of a likely monogenic bone fragility disorder / rare and atypical forms of
osteogenesis imperfecta.
In adults, testing is only routinely recommended where it will impact on reproductive choices
Test code
R102.2
Test name
N/A
Target genes
Osteogenesis imperfecta (196)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Clinical features indicative of a likely monogenic bone fragility disorder / rare and atypical forms of
osteogenesis imperfecta
In adults, testing is only routinely recommended where it will impact on reproductive choices
Commissioning group
Highly Specialised
Overlapping idications
• R89 Ultra-rare and atypical monogenic disorders or R27 Congenital malformation and dysmorphism syndromes – likely monogenic tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations not typical of disorders covered by the panel
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