An advanced carrier screening test that screens 550 genes for mutations causing over 700 inherited genetic disorders

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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, a new sequencing technology, named Next Generation Sequencing (NGS), makes DNA analysis more comprehensive, easier and more effective.

The increased information obtained from NGS is providing remarkable insight into genetic disorders. This improved understanding ultimately translates into improved genetic tests, providing the impetus for larger and more expansive screening for genetic diseases.

About GeneScreen®
Carrier Screening Test

GeneScreen® is a carrier screening test that identify couples who are at risk of passing inherited disorders to their children. Using the latest technologies, including Next Generation Sequencing (NGS), GeneScreen®  test screens 550 genes for mutations causing over 700 recessive and X-linked genetic conditions.

GeneScreen®  Carrier Screening Test allows for a comprehensive care and enables patients to make more informed reproductive decisions. Offering GeneScreen®  to a patient before pregnancy allows her to gain knowledge about her reproductive health early.

GeneScreen®  Indication for testing

GeneScreen® is intended for patients who meet any of the following criteria:

• 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).

GeneScreen® Brochure

The Testing Process

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.

GeneScreen® Test Technical Report

Accuracy of GeneScreen® test

Current 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.

Limitation of the GeneScreen® test

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.

Genetic Counseling
If you have remaining questions about non-invasive prenatal testing of single gene disorders after talking with your health care provider, we recommend that you make an appointment with a local genetic counselor who can give you more information about your testing options.

Results of the GeneScreen® test


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:

Known pathogenic: clinical relevant mutations causing well-established syndromes;
Likely pathogenic: variants that are likely clinical relevant and may cause well-established syndromes.
Variants of uncertain clinical significance (VOUS): findings with insufficient evidence available for unequivocal determination of clinical significance.
Benign: variants that are common or observed in the normal population without known phenotypic signs or inherited from a healthy parent;

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

GeneScreen® Sample Report

PrenatalScreen® is a test of

Genoma Group

Advanced molecular diagnostics solutions using state-of-the art technologies

Test performed in Italy

ISO 17025 accredited laboratories

Fast TAT: 10 days

Personalized genetic counseling

20 years experience in prenatal diagnostics

Dedicated R&D team

Test available worldwide

Over 200.00 genetic tests/year

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 7,000 sqm. The centre uses state-of-the-art instruments and technologies and works at high quality levels.

Visit Genoma Web Site

Our figures

3 Laboratories (2 in Rome and 1 in Milan)

7.000 sqm dedicated to laboratories


3.000 different genetic tests

NGS panels

genes tested


40 sales

20 areas of application in molecular genetics

How to order GeneScreen® test

GeneScreen Procedure
GeneSAFE Kit

Ordering GeneScreen® test is simple and fast

Please contact a member of our Customers Service team at +39068811270 for more information
or fill in all required information into the following form.

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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