A diagnostic test which allows multiple testing of more than 700 hereditary genetic diseases

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Next-generation Genomics

Next-generation Genomics

The extraordinary advances in the field of genomics and biotechnology in the past few years paved the way for reading and understanding information on the human genome. Notably, new sequencing technologies called Next Generation Sequencing (NGS) make DNA analysis easier and more effective.

About GeneScreen® Test

GeneScreen® is a diagnostic test developed by the GENOMA Group which allows multiple testing of more than 700 hereditary genetic diseases, including the most common in the European population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia and Hereditary Deafness

GeneScreen® test allows the couple to learn , through the analysis of their DNA , if they are carriers of serious genetic diseases . The test , therefore , can identify couples at risk of passing on to their children a specific genetic disease .

GeneScreen® test is suggested in the following cases::
• Personal/familial anamnesis of hereditary genetic diseases;
• For future parents wishing to reduce the risk of a genetic diseases in the fetus;
• For natural or in vitro fertilization (IVF)-derived pregnancies:
• For couples using heterologus IVF procedures (egg/sperm donors).

Download Technical Information
(Format: PDF; Size: 492 Kb)


The DNA isolated from the peripheral blood is then amplified by PCR. Through a state-of-the-art technological process, named massively parallel sequencing (MPS), which uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencing instruments, 550 genes are completely sequenced (exons and adjacent intronic regions, ± 5 nucleotides , Table 1 )at high read depth. The resulting genetic sequences are analysed via an advanced bioinformatics analysis, to check the presence of potential mutations in the genes under investigation..


Present DNA sequencing techniques are more than 99% accurate. Even though this test is very accurate, the limitations of this examination are to be always taken into consideration. Please read below.

Test Limits

This examination analyses only genetic diseases and genes listed in Table1.
The test does not detect other genetic diseases or genes that were not specifically targeted.

A “NEGATIVE” - No mutations result for the examined genes does not exclude the possibility that mutations are present in a region of the genome that was not explored during the analysis. Some regions of our DNA may not be sequenced or have a lower coverage than the limitations set by GENOMA Group experts to guarantee an accurate examination of gene variations.

Test Results


Presence of one or more mutations:
this result shows that the test detected one or more mutations in one or more genes. Our geneticist will explain the meaning of the test results in detail during the genetic counselling phase and, if needed, will communicate the necessity to make further examinations on the parents in order to check whether the detected mutation is hereditary. Mutations detectable through the GeneScreen® test may be classified under the following prognosis categories:

A) Pathological: clinical significant mutations causing well-established syndromes;
B) Benign: variants that are common or observed in the normal population without known
phenotypic signs or inherited from a healthy parent
C) Variants of uncertain clinical significance (VOUS): findings with insufficient evidence
available for unequivocal determination of clinical significance.

No mutations:
this result shows the test has not detected any disease causing mutation in the investigated genes.


Technical Information
(PDF file; 209 Kb)
Genes investigated
(PDF file; 403 Kb)
Sample Report (Negative)
(PDF file; 286 Kb)
Sample Report (Positive)
(PDF file; 350Kb)

About us

GENOMA: a rich heritage combining technologies and people, a model for quality, professional expertise and competencies.

GENOMA is a highly specialised diagnostic centre in Italy, renowned for its contribution to the advancement of molecular diagnostics. The laboratory is also renowned internationally thanks to its collaboration with scientific networks and prestigious research projects.

GENOMA, incorporated in 1997, is the point of reference for high-tech examinations. It is mainly a "service" centre for highly specialised prenatal and postnatal genetic, cytogenetic and molecular examinations.

GENOMA is considered as one of the most advanced molecular diagnostics centre in Europe and its head offices are in Rome and Milan. The laboratories are in a modern, high-tech building and cover a surface of more than 4,000 sqm. The centre uses state-of-the-art instruments and technologies and works at high quality levels.

GENOMA professionals have been working in genetics for more than 20 years. A team of more than 100 professionals, including geneticists, molecular biologists, gynaecologists, researches and laboratory technicians work together operating in the field of cytogenetic and molecular diagnostics for clinical applications and research and are led by Dr. Francesco Fiorentino inside a centre with very high technical and scientific standards.

GENOMA works all over Italy and abroad in Europe, the United States and the Middle East, providing specialised diagnostic support for public and private health clinics, examination laboratories, health centres, hospitals, private clinics, general outpatients' clinics, medically assisted procreation centres and physicians specialising in different fields.
Our laboratories receive biological samples from more than 5,000 health centres and hospitals every day. The integrated approach of the Centre is aimed at performing extremely high volumes of examinations; more than 100,000 genetic tests, constantly increasing, are carried out every year.

One of the features of the Group is a well-organised network of services, one of the most comprehensive in Italy and abroad, allowing the centre to offer its patients and their physicians innovative diagnostic solutions for any clinical need. With a list of more than 1,500 genetic tests available directly in our laboratories and divided into 20 areas of application, GENOMA is able to meet increasingly specialised requests in cytogenetic and molecular diagnostics, providing its customers with a highly specialised, precise, effective and rapid service.

GENOMA is a laboratory with one of the longest, wide-ranging experience in Europe in prenatal diagnostics. Thanks to this heritage, the Group can offer expectant mothers and their physicians state-of-the art technologies for foetal chromosome and genetic diseases diagnostics.

The laboratory in figures

2 main offices (Rome and Milan)
5,000 sqm dedicated to laboratories
100,000 genetic tests every year
1,500 types of genetic examinations
100 employees
20 areas of application
2,000 customers

Contact us

If you want additional information on the GeneScreen® test fill out the on-line form prepared by the GENOMA laboratory and please do talk to one of the staff in charge.


Via Castel Giubileo, 11 - 00138 Roma (RM)
Tel. : + (39) 06.8811270 (6 linee)
Fax : +(39) 06 64492025


Via Enrico Cialdini, 16 (Affori Centre)
20161 Milano (MI)
Tel. : + (39) 0239297626 (12 linee PBX)
Fax : + (39) 02392976261


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