Next Generation Genetics
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
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
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 for mutations causing genetic conditions.
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.
WHY CARRIER SCREEN IS IMPORTANT?
Carrier testing provides valuable health information when planning a family.
Expectant parents, or couples planning a family, may be at risk for passing on severe genetic diseases, of which they are asymptomatic carriers, to their offspring.
The only way to find out if a couple is carrier of a genetic disorder is to have genetic carrier testing.
The GeneScreen® 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® unlike other carrier screening tests using targeted sequencing, performs full-exon sequencing of all the genes included on the panel, which allows a more comprehensive analysis of each gene and related diseases.
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, genes are
completely sequenced (exons and adjacent intronic regions, ±
5 nucleotides 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.
ELEVATED QUALITY OF CARE BY OFFERING EXPANDED CARRIER SCREENING TO PATIENTS REGARDLESS OF FAMILY HISTORY OR ETHNICITY
The GeneScreen® test screens for the most clinically relevant and impactful genetic conditions that typically affect health in infancy or childhood. The disorders included in the GeneScreen® test panels have been carefully selected for preconception and prenatal carrier testing
The American College of Obstetrics and Gynecology (ACOG) recommends that couples of reproductive age should be offered carrier screening before conception.
A simple buccal swab or a blood sample (3 ml) is required
Sensitivity and speciﬁcity >99%
Turnaround time of just 10-15 working days
it provides the most comprehensive information available from a carrier screening test to date
A groundbreaking technology allowing for a genetic analysis that is revolutionary
is intended for patients who meet any of the following criteria:
Individuals with a family history of a genetic disease, who are therefore at higher risk of being carriers for those diseases
Individuals belonging to certain ethnicities with high risk of being carriers of hereditary recessive disorders
For patients who are pursuing pregnancy with assisted reproductive technologies.
Couples planning to start a family or to extend it, and are willing to know if they are carriers of monogenic recessive diseases that can be transmitted to their offspring.
Couples requiring gamete donation, in order to select the most appropriate donor for each recipient , minimizing the reproductive risk.
Couples who are already pregnant and who wish to know more about the genetic health of their pregnancy.
Gamete banks or IVF clinics to analyze every egg or sperm donor, allowing also the recipients analysis to avoid high reproductive risk pregnancies.
Anyone who wants to know if they are carrier of any condition included in the panel.
provides three differents kind of results
One or more disease-causing change(s) was detected in the gene(s) included in panel identifying the patient as a carrier. Mutations can be classified as:
• Known pathogenic: clinical relevant mutations causing well-established syndromes;
• Likely pathogenic:variants that are likely clinical relevant mutations found in individuals affected by a specific genetic disorder;
Il portatore di una mutazione recessiva è asintomatico.
A change was detected in the gene/region of interest but currently, there is insufficient information in the medical literature to know whether is a disease-causing change or a normal variation in the population. This kind of changes are defined “Variants of uncertain clinical significance (VOUS)”.
VOUS will only be reported if both partners perform the test and one of them is found to be carrier of a known pathogenic mutation.
Classification follows the recommendations of the international reference guidelines
No known disease-causing change was not detected in the genes included in GeneScreen® panels. A single test cannot always detect all possible genetic changes. Hence, negative results do not completely rule out the presence of a disease-causing change in the investigated genes.
Many of the diseases included in the GeneScreen® panels are vital to know about. The categories below provide an overview of the types of conditions included in the GeneScreen® carrier screen.
some of the conditions can be treated early in life, like Wilson disease and PKU
some of the conditions result in intellectual disabilities, as with fragile X syndrome and Niemann-Pick disease.
Shortened life expectancy
some of the conditions are chronic and require lifelong management, like cystic fibrosis and Bloom syndro
Limited or no treatment
some of the conditions have no treatments available, like spinal muscular atrophy and Canavan disease.
Useful documents for GeneScreen® test
EXPERTISE AND QUALITY YOU CAN TRUST
From over 20 years, Genoma has been the leading pioneer in genetic testing. Our team’s unmatched knowledge and experience deliver a combination of advanced technology and deep patient data sets that lead to more accurate diagnosis.
in Italy (Milan or Rome)
20 years experience in prenatal molecular diagnostics
with groundbreaking technologies
10-15 working days
Personalized genetic counseling
with genetic counselors experts in discussing genetic test results and familial risks
Dedicated R&D team
Numerous peer-reviewed papers published in renowned international journals
Ordering GeneScreen® test is simple and fast
Please contact a member of our Customers Service team at +3906164161500 for more information
or fill in all required information into the following form.