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
Genetics Laboratory
5th Floor Tower Wing
Guy’s Hospital
London
SE1 9RT
Contact with queries
Supporting documents
n/a
Education resources
n/a
Turn around times
All our turnaround times are listed on our specific turn around page https://southeastgenomics.nhs.uk/professionals/service-turn-around-times/
Request form download
Consent record
See consent guidance in test request form
Sample requirements
Samples may be rejected for the following reasons: 1.Samples and request form do not show at least three identical patient identifiers 2.The sample is in the incorrect collection media 3.The request form is not sufficiently completed 4.The sample is not of sufficient volume 5.The sample is too old