Clinical Indication ID & Name
Isolated hemihypertrophy or macroglossia
Test Group
Endocrinology
Specialties
Test code
R50.1
Test name
N/A
Target genes
11p15 imprinted growth regulatory region
Test scope
n/a
Test method/ technology
Methylation testing
Optimal Family Structure
n/a
Eligibility Criteria
Isolated hemihypertrophy, OR
Isolated macroglossia
Test code
R50.2
Test name
N/A
Target genes
11p15 imprinted growth regulatory region
Test scope
n/a
Test method/ technology
MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Isolated hemihypertrophy, OR
Isolated macroglossia
Commissioning group
Specialised
Overlapping idications
• R49 Beckwith-Wiedemann syndrome test should be used where additional features suggestive of Beckwith-Wiedemann syndrome are present • R147 Growth failure in early childhood test should be used where additional features suggestive of Silver-Russell syndrome are present • R26 Likely common aneuploidy test should be used where macroglossia occurs in the presence of features suggestive of Down syndrome • R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with complex or syndromic presentations not suggestive of Beckwith-Wiedemann syndrome, Silver-Russell syndrome or Down syndrome. • R263 Confirmation of uniparental disomy test should be used to confirm likely UPD detected on methylation and copy number testing
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