Institution: Vilnius University Hospital Santaros Klinikos
Country: Lithuania
Website: www.santa.lt
Department: Hematology, oncology and transfusion medicine
Website: www.santa.lt
Department e-mail: hotc@santa.lt
Department phone: 37069771477
Contact persons: Andrius Degulys
Department activity: Clinical management, Diagnostic
Type of patients in Follow-up: Adults
Diagnostic methodologies: Genetics
Total number of PKD patients in follow-up: 2
Number of PKD adult patients (≥ 18 years): 2
Total number of PKD patients in follow-up: 2
Number of PKD adult patients (≥ 18 years): 2
Total number of PKD patients in follow-up: 2
Number of PKD adult patients (≥ 18 years): 2
Perform PK enzyme activity assay: No
Method used to perform PK activity assay?:
Externalize PK activity quantitative assay: No
Perform PKLR genetic characterization: Yes
Method used for PKLR genetic characterization: NGS
Turn-around-time?: 1 month
Offer genetic counselling for PKD: Yes
Have prenatal diagnosis for PKD available: Yes