PrenatalSAFEKaryo is a non-invasive prenatal test that evaluates the entire fetal genome and detects chromosomal aneuploidies for chromosomes 21, 18, 16, 13, 9, sexual chromosomes (X and Y) and microdeletions, by analyzing circulating fetal DNA through a blood sample drawn from the pregnant mother and using the latest Next Generation Sequencing technology

PrenatalSAFEKaryo identifies 92.6% of chromosomal anomalies prenatally detected and 96.2% of those anomalies observed at birth, achieving a detection rate very close to the traditional fetal karyotyping (96.9%), obtained with invasive, prenatal diagnostic techniques.

PrenatalSAFEKaryo using the most advanced technology Next Generation Sequencing on circulating fetal DNA in maternal blood, examines the entire fetal genome and looks for aneuploidies of all chromosomes. As of the 10th week of pregnancy 8ml of blood is drawn and circulating fetal DNA is analyzed. It is a NON- INVASIVE test, therefore completely safe for the pregnant mother and fetus. The risks of aborting, present in traditional techniques of invasive prenatal diagnosis such as amniocentesis and chorionic villus sampling, are thus nullified.

Because of its high resolution, PrenatalSAFEKaryo test can reveal chromosomal aneuploidies even on low quantities of fetal DNA (2%), contrary to other tests which require >4% fetal DNA, thus lowering the recall rate.

Due to the advanced automated technology, test results are available in 3 to 7 working days. We offer also free genetic consultation, free RH factor determination and free molecular karyotyping in case of positive results.

GeneScreena diagnostic test that allows multiple testing of more than 700 hereditary diseases, including the most common in the European population, such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia and Hereditary Deafness.

GeneScreenallows a couple to find out, through DNA analysis, if they are carriers of serious genetic diseases.

The GeneScreentest is carried out with a blood sample, through a state-of-the art process Massive Parallel Sequencing (MPS) which uses Next Generation Sequencing (NGS) techniques, in which 550 genes are sequenced.

The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if mutations are present.

Current DNA sequencing techniques are more than 99% accurate.

Presence of one or more mutations:
this shows that the test has detected one or more mutations in one or more genes. During consultation, our geneticist explains the results in detail and may suggest the necessity of the partner undergoing the test so as to establish whether they are a carrier of the same genetic disease in which case there could be a risk of transmitting the disease to future children.

PrenatalScreencan diagnose more than 1,000 genetic diseases such as Cystic Fibrosis, Sickle Cell Anaemia, Thalassaemia, Spinal Muscular Atrophy, Hereditary Deafness. The test is performed on fetal DNA extacted from fetal cells present in amniotic fluid via amniocentesis or in chorionic villi through chorionic villus sampling.

The isolated fetal DNA is then sequenced using Next Generation Sequencing (NGS) techniques at high reading intensity. The resulting genetic sequences are analysed via an advanced bioinformatics analysis, to check for the presence of potential mutations in the examined genes.

Current DNA sequencing techniques are more than 99% accurate.

Presence of one or more mutations: this shows that the test has detected one or more mutations in one or more genes.

No mutations: shows that the test has not detected any mutations in the genes examined. Such a result significantly reduces the probability that the fetus carries any of the genetic diseases tested.

BreastScreenis a diagnostic test which carries out a multiple genetic analysis aimed at evaluating the susceptibility to the development of breast and ovarian cancer.

The BreastScreentest is carried out with a blood sample. The DNA is isolated from the nucleated cells through a complex laboratory analysis and amplified via PCR. Then, with the state-of-the art process Massive Parallel Sequencing (MPS) which uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers, 13 genes usually involved in most cases of hereditary predisposition to the development of breast and ovarian cancer are sequenced. The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if there are any mutations.

Current DNA sequencing techniques are more than 99% accurate.

Being able to identify people who have a higher risk of developing a neoplasm is currently the best way to get an early diagnosis of the tumour and therefore lower mortality rates.

Presence of one or more mutations:
means that the test shows that there are one or more mutations in one (or more) genes leading to hereditary susceptibility to the development of breast and ovarian cancer; the test, therefore, shows a copy of the mutated gene. Our geneticist can be consulted to explain in detail the meaning of the mutation found on the particular gene.

ColonScreenis a diagnostic test which carries out a multiple genetic analysis aimed at evaluating the susceptibility to the development of Colorectal cancer or Familial Adenomatous Polyposis.

The ColonScreentest is carried out with a blood sample. The DNA is isolated from the nucleated cells through a complex laboratory analysis and amplified via PCR. Then, with the state-of-the art process Massive Parallel Sequencing (MPS) which uses Next Generation Sequencing (NGS) techniques with ILLUMINA sequencers, 12 genes usually involved in most cases of hereditary predisposition to the development of Colorectal cancer or Familial Adenomatous Polyposis are sequenced. The resulting genetic sequences are analyzed with an advanced bioinformatics analysis, to find out if there are any mutations.

Current DNA sequencing techniques are more than 99% accurate.

Being able to identify people who have a higher risk in developing a neoplasm is currently the best way to get an early diagnosis of the tumor and therefore lower mortality rates.

Presence of one or more mutations:
this means that the test shows that there are one or more mutations in one (or more) genes leading to hereditary susceptibility to the development of Colorectal cancer or Familial Adenomatous Polyposis; the test, therefore, shows a copy of the mutated gene. Our geneticist can be consulted to explain in detail the meaning of the mutation found in that particular gene.

OncoScreeningis a diagnostic test, which carries out a multiple genetic analysis aimed at evaluating the susceptibility to the development of several types of hereditary cancers, such as: breast cancer, ovarian cancer, colorectal cancer, gastric cancer, pancreatic cancer, prostate cancer, skin cancer (melanoma), endometrial cancer, kidney cancer, pheochromocytoma/ paraganglioma and uterine cancer.

The OncoScreeningtest is carried out on a blood sample. The state-of-the art process Massive Parallel Sequencing (MPS) which uses Next Generation Sequencing (NGS) techniques, sequences 72 genes. The resulting genetic sequences are analyzed with an advanced bioinformatics analysis to find out if there are any mutations.

Current DNA sequencing techniques are more than 99% accurate.

The test results can help in finding family members with a high risk of developing cancer, organizing an appropriate medical check-up plan, bringing awareness that the genetic mutations may be transferred, evaluating the possibility of undergoing preventive therapies.

Presence of one or more mutations:
the result shows that there are one or more mutations in one (or more) genes leading to hereditary susceptibility to the development of cancer; the test, therefore, shows a copy of the mutated gene.
In consultation, our geneticist will explain in detail the meaning of the mutation found in that particular gene.