The Complement Genetics and Molecular Analysis Laboratory (DCOM) is an international reference laboratory in the physiopathology of complement and a strategic value within the Spanish National Health System. DCOM performs complete genetic and molecular studies of the complement system requested by physicians from public or private institutions, inside and outside of Spain. These studies include the screening of all the genes of the complement by Next Generation Sequencing (NGS) and Sanger DNA sequencing, the study of variations in the number of copies (CNVs), by means of MLPA, the determination of levels of complement proteins in plasma and the identification of autoantibodies against some complement proteins. The purpose of these studies is the identification of genetic or acquired factors that cause rare diseases, such as the Atypical Hemolytic Uremic Syndrome, C3-Glomerulopathy and Paroxysmal Nocturnal Hemoglobinuria, or common disorders, such as IgA Nephropathy or Age-Related Macular Degeneration. The data generated in the studies performed are interpreted by the staff of the Service, issuing a report addressed to the physicians responsible for the patients. This report describes the findings obtained and discuss them helping the physicians to anticipate the consequences they have on the evolution of the disease and the response of the patients to possible treatments with complement inhibitors. The scope of the service activity is in the environment of medical specialties such as nephrology, ophthalmology and hematology.
Currently, routine genetic testing is also performed in numerous asymptomatic relatives with pathogenic complement mutations, which raises great concern among families and clinicians due to the lack of reliable values for the prevalence of aHUS for these individuals.
DCOM is integrated into the Community Laboratory Network (REDLAB-408 Laboratory) and is part of the Complement II CM Program funded by the Community of Madrid through the call for Biomedicine 2017 (S2017 / BMB -3673).
Finished proyects:
"Desarrollo de un Centro de Referencia para patologías raras asociadas a desregulación del sistema del complemento". Financed by Fundación Inocente Inocente. 2018
"Desarrollo de una Medicina Personalizada en Síndrome Hemolítico Urémico atípico". Financed by ASHUA Patient Association. 2019-2020