AGPAT2, BSCL2, CAV1, CAVIN1, LIPE, LMNA, PLIN1, POLD1, PPARG and ZMPSTE24 GENE ANALYSIS
Congenital generalised lipodystrophy (CGL) is an autosomal recessive disorder characterised by marked paucity of adipose tissue at birth or in infancy, extreme insulin resistance, acanthosis nigricans, hypertriglyceridemia, hepatic steatosis and early onset of diabetes. Additional characteristics include accelerated growth during childhood, increased basal metabolic rate, voracious appetite, acromegaloid appearance (enlarged mandible, hands and feet), hepatosplenomegaly, umbilical hernia and in women, clitoromegaly and hirsutism.
The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.
Download the lipodystrophy and severe insulin resistance patient information sheets from the National Severe Insulin Resistance Service, Addenbrooke’s Hospital, Cambridge:
http://www.cuh.org.uk/sites/default/files/publications/PIN3418_lipodystrophy_v1.pdf http://www.cuh.org.uk/sites/default/files/publications/PIN3419_severe_insulin_resistance_v1.pdf
NHSE test directory code: R158 Lipodystrophy – childhood onset. Testing criteria can be found on this webpage: https://www.england.nhs.uk/publication/national-genomic-test-directories/.
8092
