Medical Genetics Centre
Vilnius University Hospital
Santaros Klinikos
Santariškių street 2
Vilnius, LT-08661 Lithuania


Dr Aušra Matulevičienė

Telephone: +370 5 2365195


The area of expertise of the Competence Centre for Congenital Malformations and Intellectual Disability (CCCMID) at Vilnius University Hospital Santaros Klinikos (VUH SK) include all rare congenital malformations and rare intellectual disabilities. Current nosological structure of these disorders includes several thousand monogenic, chromosomal, multifactorial and teratogenic syndromes/diseases/isolated malformations. As currently VUH SK is the only one institution in Lithuania performing next-generation sequencing and arrayCGH for genetic diagnostics, the coverage area of the CCCMID include the vast majority of Lithuanian population (~3 million inhabitants).

Service to patients

The major services provided to the patients/families with congenital malformations and/or intellectual disabilities (CM/ID) include etiological diagnostics along with the whole range of clinical genetics services, organization of multidisciplinary care and long-term surveillance/rehabilitation. The basis of CCCMID, Centre for Medical Genetics, is the main institution of clinical genetics in Lithuania providing ~7000 consultations and ~3000 genetic tests annually. The range of clinical genetics services at CCCMID includes clinical diagnosis, genetic testing, genetic counseling, presymptomatic, prenatal/preimplantation diagnostics and surveillance/reevaluation for undiagnosed cases. Other services provided include neuropsychological/neuropsychiatric evaluation, psychological consultations for patients/families, early and continuous rehabilitation and habilitation programmes for patients with psychomotor retardation/intellectual disabilities/behavioural problems and their families. Being an integral part of VUH SK that includes the whole range of medical specialties, CCCMID takes part in the organization of multidisciplinary services for patients with CM/ID and their families including laboratory and instrumental diagnostics, medical and surgical treatments, long-term surveillance and rehabilitation. VUH SK Neonatology Centre, Children’s Orthopedics and Traumatology centre, Children’s Surgery Centre and Heart Surgery Centre are the main medical centers providing diagnostics, treatment and management of certain congenital malformations for the whole population of Lithuania (with certain complex surgical treatments being performed only in VUH SK). Physical Medicine and Rehabilitation Centre and Children Development Centre have the longest history of provision of services to children with congenital malformations and/or intellectual disabilities in the country.

Besides, the Centre for Medical Genetics together with the Department of Human and Medical Genetics forms the basis for all level medical education, teaching and training in genetics and clinical genetics at Vilnius University, Faculty of Medicine. Currently, more than 30 undergraduate, graduate, master and doctoral courses and 6 CME courses are provided. Besides, multiple other regular (e.g., Dysmorphology Autumn courses, Rare Disease Day events) and sporadic events for professionals and lay public are organized every year.

Organization of the ERN ITHACA Vilnius Centre

Vilnius University Hospital Santaros Klinikos (VUH SK) is one of the two main University hospitals in Lithuania. VUH SK campus with >2000 beds and >5000 staff serves ~90,000 inpatients and 900,000 outpatients annually. The hospital includes all medical specialties with 28 medical centres, 33 competence centres for rare diseases and the whole range of services for patients with rare and complex disorders. Being co-founded by Vilnius University and Lithuanian Ministry of Health, VUH SK is also one of the two main institutions in Lithuania providing all-level medical education, teaching and training.