Laboratory of Forensic Genetics
(Director: Prof. Emiliano Giardina)
The Forensic Genetics Laboratory is a facility located within the Biomedicine and Prevention department. The Laboratory is the result of the close collaboration between the Medical Genetics service directed by Prof. Giuseppe Novelli and the Legal Medicine service, which is supervised by Prof. Giovanni Arcudi.
The Forensic Genetics Laboratory is able to provide the legal service with a valid technological and scientific support thanks to the highly-experienced staff and the availability of innovative technologies. In particular, the staff has been able to gain a great experience by performing several analysis for relevant civil and criminal proceedings. Laboratory staff regularly organizes training and professional development courses for biologists, technicians and consultants.
The Laboratory of Forensic Genetics provides a number of services, including:
Confirmation/exclusion of the paternity by comparing the DNA of the alleged father with the DNA of the child.
“Express” Paternity test - NEW -
The paternity test is delivered within the same day of sample collection, including the test report and the biostatistical analysis. To ask for more information, please contact the following phone number: +39 349-43.219.45.
Comparison between the DNA of the alleged mother and that of the child. This test is particularly important in case of family reunification as it consents to confirm/exclude the maternity.
Assessment of the probability that different subjects share one/both/none of the parents.
Kinship assessment test
Assessment of the probability that two or more subjects are biologically related (for instance: grandfather-grandchild, uncle-nephew or very complicated cases).
Technical counselling for civil and criminal proceedings
The counselling is intended to assist the technical consultant, the lawyer or private citizens involved in civil disputes or criminal proceedings by providing them with specific analyses and drafting a technical report.
Identification of visible and invisible biological traces through the inspection under white light and forensic light sources
Identification of biological traces utilizing the most recent technologies able to detect even the traces which are invisible to the naked eye.
Generic diagnosis and specific diagnosis
Characterization of the trace (blood, sperm, saliva) and classification of human trace through the employ of advanced methodologies.
Utilization of automated new generation methods able to extract the DNA starting from every kind of trace or biological sample.
Determination of the DNA amount through Real-Time PCR methodologies and evaluation of the samples quality based on the measuring of degradation and inhibition parameters.
Molecular typing of all the validated loci for forensic purposes
Extrapolation of the genetic profile through the analysis of all the validated markers for forensic purposes and recognized by the national (GeFi, SIGU) and international (ENFSI, ISFG, SWAGDAM) scientific communities.
Molecular typing of Y chromosome
Extrapolation of the Y chromosome haplotype through the analysis of all the validated markers for forensic purposes and recognized by the national (GeFi, SIGU) and international (ENFSI, ISFG, SWAGDAM) scientific communities. Given the fact that the Y chromosome is specific for male subjects (males have one single Y and one X chromosome) and it is transmitted without variations by father to son, it is very helpful for paternity and kinship assessment tests involving male subjects. The analysis of Y chromosome is very important to identify the number of male unrelated contributors present on a particular trace.
Molecular typing of X chromosome
Extrapolation of the X chromosome profile through the analysis of all the validated markers for forensic purposes and recognized by the national (GeFi, SIGU) and international (ENFSI, ISFG, SWAGDAM) scientific communities. This chromosome is present in single copy in males (XY) and in double copy in female subjects (XX), hence it can be helpful for complex kinship assessment cases.
Mitochondrial DNA analysis
Extrapolation of the mitochondrial DNA haplotype through methodologies based on the direct sequencing of DNA. Every cell contains many copies of mitochondrial DNA which is transmitted by the mother to all of her children, independently from the gender. This analysis can be helpful to solve some complex kinship assessment such as brotherhood cases or when the degraded DNA is the only available biological source.
Biostatistic interpretation of simple or complex, single or mixed genetic profiles
The biostatistical analysis aims to evaluate and determinate the “weight of evidence”, the paternity probability and the “frequency of a specific profile/haplotype within the reference population”. These analysis are fundamental because the quality of the analytical results strictly depends on the robustness of the statistics in use. Statistical analysis is performed by highly qualified staff and the use of up-to-date softwares.
Forensic analysis section
The Forensic Genetics Laboratory performs genetic analysis on every biological tissue, such as blood, sperm, vaginal secretion, bony fragments, hair, nails, teeth, urine, ext. The DNA is extracted from these samples and analysed in order to get a forensic genetic profile. Biostatistical interpretation of results allows to confirm or exclude the compatibility among two or more profiles. Moreover, forensic profile consents to determine the existence of relationship and identify unknown body parts. The techniques employed for DNA analysis include the Polymerase Chain Reaction (PCR), capillary electrophoresis, Real-Time PCR which together with automated procedures, allow to extrapolate the forensic profile.
Kinship assessment section
The Forensic Genetics Laboratory provides genetic counselling and analytical services aimed to determine the relationship among two or more individuals. The Laboratory follows the directives of Italian Society of Human Genetics (SIGU). The analysis can be requested by simply contacting the Laboratory for an interview with the forensic geneticist: pre-test and post-test counselling will be performed by a specialist who will explain every characteristic and implication of the test. The biological sample (buccal swab) will be collected within the same place after signature of the “informed consent”.
Given the complexity and the sensitiveness of the analysis, the Forensic Genetics Laboratory of “Tor Vergata” University has been conceived and realized in order to ensure the adequate working and safety conditions. The Laboratory has been projected in order to have separate working areas for every analytical phase. The tested material is moved following a unidirectional flow, from the areas dedicated to the pre-PCR phases to those utilized for the post-PCR phases, with the purpose of avoiding any possible cross-contaminations. Every working area is provided with sterile air and adequate temperature, the entrances are controlled by alarmed devices which prevent from unwanted openings and preserve the inner environment.
Room 1 and 2: finds acceptance and sampling
Two adjacent and communicating rooms have been created: the first is an antechamber dedicated to the acceptance of samples and the supply of safety equipment for the operators. The second room is completely sterile and it is the place where the sampling procedures occur. An alarmed-door divides the two rooms in order to prevent the simultaneous opening of two entrances, the communication of the second room with the external environment and to maintain the overall sterility of the laboratory.
Room 3, 4 and 5: Extraction, Amplification and Instruments room
A single entrance allows to access the first antechamber which communicates with the first sterile room through an alarmed-door. This room is utilized for the extraction of the genetic material. A second door divides this area from the second sterile environment, where the extracted material (DNA) is quantified and amplified. At the end of this analytical phase, the operator moves into another room where the instruments for quantification and amplification are placed and where the electrophoresis run is prepared.
Room 6: post-PCR
An opening window allows the transfer of the material into the last room of the Laboratory, where the electrophoresis run is performed on the automated sequencer. This testing area is only accessible from outside (controlled access) in order to ensure the complete separation of the different analytical phases.
The quality of the analytical results strictly depends on the robustness of the statistics in use. This is the reason why the Forensic Genetics Laboratory of “Tor Vergata” University has established a specific centre of forensic biostatistics. The availability of different informatics accesses and the presence of skilled personnel able to manage the most advanced statistical analysis systems enables this centre to solve different cases: from kinship assessment to the analysis of the complex mixtures (analysis of mixed genetic profiles).
Quality and clearness of results
The quality of a Laboratory testing is certainly represented by the clearness of results, observed protocols, employed staff and of the instruments in use. A modern Laboratory of Forensic Genetics should be able to allow anyone who has the authority to request or get the authorization to ask for the control and the verification of the quality of his own work and results. To this purpose, the Laboratory of Forensic Genetics is made entirely of glass walls in order to enable visitors, counsellors, experts and students to observe and/or control the progress of the whole analytical process, without entering the critical areas and interfering with the activity. The Laboratory follows the directives of SIGU (Italian Society of Human Genetics), which state that the paternity test (and the analysis for kinship assessment) can be employed for legal actions. The quality of the laboratory analysis performed by the Laboratory of Forensic Genetics is possible through the adherence to national and international guidelines and the monitoring provided by the national (GeFi) and international (GEDNAP) proficiency testing.
A pathway accreditation was deemed necessary to ensure the quality of analysis and to improve the abilities of the Forensic Genetics Laboratory. Only accredited test Laboratories are able to provide the market (business, P.A., consumers) with reliable, credible and internationally recognized declarations of
The accreditation certifies the quality level of the work of a test Laboratory by verifying the compliance of its management system and competencies, according to internationally recognized regulatory requirements as well as to mandatory legislative requirements. After two years of activity, the Laboratory of Forensic Genetics - Department of Biomedicine and Prevention - “Tor Vergata” University has received the accreditation for the DNA analysis by the Italian Accreditation Body (ACCREDIA). The Laboratory has consequently obtained the permission for use the ACCREDIA logo, in accordance with the Body’s rules.
The Laboratory of Forensic Genetics - Department of Biomedicine and Prevention - “Tor Vergata” University is accredited to the norm UNI CEI EN ISO/IEC 17025:2005 for the tests recorded in the official list, which is available on ACCREDIA website (http://www.accredia.it/):
Look up in the technical details of the accredited tests
Meaning of the accreditation
The Mission of the University Laboratory The Laboratory of Forensic Genetics is deliberately incorporated in an important university environment which has always been finalized to educate the new generation of professionals concerning all fields of knowledge. Taking into account that a university laboratory cannot be exempted from educating professionals, the Forensic Genetics Laboratory of “Tor Vergata” University arranged some areas for the training of the new generation of forensic geneticists: indeed, the Laboratory
serves as didactic platform for the students of the “Second Degree Master in Forensic Genetics” which has been active over many years (www.mastergeneticaforense.it). The Laboratory is also the primary didactic centre of Forensic Genetics for the National Biological Association and for the Advanced Training Course of Forensic Genetics activated by the Association as well. The scientific director of the course is Prof. Emiliano Giardina (www.onb.it).
The students are constantly supported during their whole theoretical-practical training in the Laboratory, learning not only to understand results but also to perform the laboratory assays. Actually, the major goal of these courses is to teach not merely the knowledge but above all the practical know-how.
Laboratory of Forensic Genetics
Department of Biomedicine and Prevention
University of Rome Tor Vergata
Via Montpellier, 1 – 00133 – Rome (Italy)
Via Montpellier, 1 - 00133 Roma (Italy)
Phone (+39) 067259-6030-6072
Cell-Phone (+39) 3494321945
Fax (+39) 0699266531
Director of the Laboratory of Forensic Genetics:
prof. Emiliano Giardina
Rector of University of Tor Vergata - Director of the Laboratory Medical Genetics:
prof. Giuseppe Novelli
Director of Legal Medicine:
prof. Luigi Tonino Marsella
Quality Assurance Manager:
Dott. Stefano Melchiorri
Technical DNA Manager:
Dott.ssa Laura Manzo
Dott.ssa Laura Foca
Dott.ssa Maria Elisabetta Onori
Dott. Michele Ragazzo
Dott.ssa Denise Albani
Prof. Emiliano Giardina
Dott.ssa Laura Manzo
Dott.ssa Stefania Zampatti
Dott. Luca Chianelli