Clinical Indication ID & Name
Amelogenesis imperfecta
Test Group
Musculoskeletal
Specialties
Test code
R340.1
Test name
N/A
Target genes
Amelogenesis imperfecta (269)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
1. Significant developmental abnormalities of enamel quality and/or quantity affecting all or nearly all teeth of both dentitions (primary and secondary), AND
2. Environmental factors excluded
NOTE: Enamel abnormalities affecting unerupted permanent teeth can be detected on dental radiographs meaning that information about both dentitions is available well before eruption of the first permanent tooth
Test code
R340.2
Test name
N/A
Target genes
Amelogenesis imperfecta (269)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
1. Significant developmental abnormalities of enamel quality and/or quantity affecting all or nearly all teeth of both dentitions (primary and secondary), AND
2. Environmental factors excluded
NOTE: Enamel abnormalities affecting unerupted permanent teeth can be detected on dental radiographs meaning that information about both dentitions is available well before eruption of the first permanent tooth
Commissioning group
Specialised
Overlapping idications
n/a
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