Medical Genetics Unit
Molecular Genetics Laboratory
Molecular Genetics Laboratory Staff
- Dr. Anna Ravani (Laboratory Manager) - e-mail: rvn@unife.it
- Dr. Anna Venturoli (Assistant Laboratory Manager)
- Dr. Bernardetta Dolcini
- Dr. Paola Rimessi
- Dr. Rita Selvatici (University Researcher)
- Dr. Marina Taddei Masieri
- Dr. Cecilia Trabanelli
- Dr. Marina Fabris (University Technician)
Molecular genetics testing analyses DNA and its products – RNA and proteins. Alterations of these molecules may be linked to or cause particular genetic conditions. We offer both prenatal and postnatal molecular testing on various types of biological samples.
HOW TO BOOK
For information about where we are, how to book and which forms to fill in, please see:
Molecular Genetics Laboratory Booking Procedures
OTHER FORMS:
Information sheet/form for referred patients:
Samples from other hospitals or departments (referred for pre- or postnatal molecular testing) are only accepted upon specific agreement with the laboratory (test specifications and national health service authorization), provided that correct identification of samples and their adequate conservation is guaranteed by the referring physician.
If appropriate documentation and/or samples are not provided, the laboratory will advise the Medical Genetics Department via a non-conformity report. The Medical Genetics staff will then contact the referring physician to request additional documentation and/or samples.
MEDICAL REPORTS
All medical reports regarding pre- or postnatal tests performed on biological samples referred by internal departments (inpatients, day-hospital, or PAC patients) or external institutions will be sent to the referring physician. Medical reports regarding outpatient tests will be sent to the assisting Medical Geneticist, who will draw up the genetic counselling report.
List of diseases and all mandatory forms to be compiled and sent together with biological sample:
- Kennedy’s Disease (AR)
- Episodic Ataxia type 1 (KCNA1)
- Friedreich’s Ataxia (FXN)
- Spinocerebellar Ataxia (SCA)
- Spina Muscular Atrophy (SMN1)
- Huntington's disease (HTT)
- Dystonia(DYT1)
- Emery-Dreifuss Muscular Dystrophy (LMNA AC)
- Limb-girdle Muscular Dystrophy (CAPN3, DYSF, FKRP, CAV3)
- Dystrophynopathies
- Cystic Fibrosis (CFTR)
- Y chromosome microdeletions
- Brody’s Disease (SERCA 1)
- Collagen VI-related myopathies (COL6A1, COL6A2, COL6A3)
- Myofibrillar myopathies (MYOTILIN, DESMIN, ZASP, ALFA-BETA CRISTALLIN)
- SEPN1-related myopathy (SEPN1)
- Charcot-Marie-Tooth disease (PMP22, GJB1)
- TTR-related neuropathy (TTR)
- Motor Neurone Disease (SOD1)
- Angelman/Prader-Willi syndromes
- Fragile X syndrome (FMR1)
- Pendred syndrome (PDN)
- Rett Syndrome (MeCP2)
- Deafness (GJB2-GJB6)
- Thalassemias – Haemoglobinopathies (ALFA, BETA, DELTA, GAMMA)
