Clinical Indication ID & Name
Severe early-onset obesity
Test Group
Endocrinology
Specialties
Test code
R149.1
Test name
N/A
Target genes
Severe early-onset obesity (130)
Test scope
n/a
Test method/ technology
WES or Medium panel
Optimal Family Structure
n/a
Eligibility Criteria
BMI more than 3 standard deviations above the mean, with onset before the age of 5 years, in the absence of significant syndromic features, and with no explanation
Test code
R149.2
Test name
N/A
Target genes
Severe early-onset obesity (130)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
BMI more than 3 standard deviations above the mean, with onset before the age of 5 years, in the absence of significant syndromic features, and with no explanation
Commissioning group
Specialised
Overlapping idications
• R27 Congenital malformation and dysmorphism syndromes – likely monogenic or R89 Ultra-rare and atypical monogenic disorders tests should be used in individuals with congenital malformations, dysmorphism or other complex or syndromic presentations
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