Clinical Indication ID & Name
Lipodystrophy - childhood onset
Test Group
Endocrinology
Specialties
Test code
R158.1
Test name
N/A
Target genes
Lipodystrophy - childhood onset (546)
Test scope
n/a
Test method/ technology
Small panel
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical diagnosis of childhood onset lipodystrophy, with features likely to include lipoatrophy affecting the trunk, limbs and face, acromegaloid features, progeroid features, hepatomegaly, elevated serum triglycerides and severe insulin resistance with early development of diabetes,
AND
Acquired causes have been excluded
OR
Individuals with the following features of severe insulin resistance:
• Acanthosis nigricans
OR
• A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
Are not obese (BMI <30kg/m2 if white (<95th centile for weight in children) or BMI <27kg/m2 (<95th centile for weight in children) if high prevalence type 2 diabetes group).
Test code
R158.2
Test name
N/A
Target genes
Lipodystrophy - childhood onset (546)
Test scope
n/a
Test method/ technology
Exon level CNV detection by MLPA or equivalent
Optimal Family Structure
n/a
Eligibility Criteria
Individuals with a clinical diagnosis of childhood onset lipodystrophy, with features likely to include lipoatrophy affecting the trunk, limbs and face, acromegaloid features, progeroid features, hepatomegaly, elevated serum triglycerides and severe insulin resistance with early development of diabetes,
AND
Acquired causes have been excluded
OR
Individuals with the following features of severe insulin resistance:
• Acanthosis nigricans
OR
• A fasting insulin >150pmol/l if not insulin treated OR if insulin treated an insulin requirement >3U/kg/day
AND
Are not obese (BMI <30kg/m2 if white (<95th centile for weight in children) or BMI <27kg/m2 (<95th centile for weight in children) if high prevalence type 2 diabetes group).
Commissioning group
Highly Specialised
Overlapping idications
• R141 Monogenic diabetes test should be used for adult onset lipodystrophy with insulin resistance or diabetes • 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