In a blood or tissue's analysis, a genetic test identifies changes in a particular gene or chromosome, allowing the prevention and diagnosis of inherited diseases, cancer and others.
It's been over 25 years since the begining of the first private laboratory of Medical Genetics in Portugal, that's called Laboratorio de Genética Médica Unilabs Portugal (CGC Genetics), pioneer in the ISO 9001 certificate, CLIA y NP 4457.
We are an European reference laboratory dedicated to diagnosis in Medical Genetics, with more than 4.000 different analyzes and a clinical unit with medical geneticists.
The laboratories are equipped for the most differentiated techniques, among which 3 platforms stand out that make the difference: the two NGS platforms that allow gene sequencing; gene and exome panels, for the detection of mutations in the genes studied; and the CGH array platform that allows the performance of the chromosome array study and the detection of DNA microdeletions and microduplications throughout the entire genome.
Every day, our 80 geneticists (clinical and laboratory) guarantee comprehensive solutions depending on the clinical situation.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) has medical geneticists specialized in clinical evaluation and genetic counseling in the field of deformation neurogenetics, prenatal genetics and familiar cancer.
The Medical Genetics consultation consists of a doctor-patient interaction that addresses problems related to the existence of a genetic disease and its risk of recurrence in family members. This process helps patients understand and adapt to the medical, psychological, and family consequences of genetic disease.
This process includes:
- The collection and interpretation of personal and family history in order to determine the possibility of recurrence of a genetic disease.
- Obtaining information on the mode of inheritance, the type of test to be performed, the evolution of the disease, its prevention,etc.
- Advice on the different options depending on the risk and the condition of each patient.
Pathological anatomy is a medical specialty dedicated to the diagnosis of diseases.
The diagnosis in pathological anatomy is based on the macroscopic examination of surgical specimens and on the microscopic examination. In different areas it can be performed based on the cytopathological examination. Autopsy diagnosis is increasingly limited to embryo-fetal and neonatal clinical autopsy.
The embryo-fetal / neonatal autopsy and the pathological study of the placenta have occupied a prominent place in recent decades in determining the cause of fetal/neonatal loss and in understanding the impact of damage on the development of the child in the childhood and school age.
The Unilabs Pathological Anatomy / Embryofetopahtology Laboratory is made up of a team of doctors specializing in Pathological Anatomy, licensed technicians in Pathological Anatomy and administrative personnel, who preferably carry out their activity in the area of obstetric surgical pathology: placenta, embryo, fetus newborn, uterine, pathology in a context of pregnancy or postpartum and ectopic pregnancy.
At the Unilabs Portugal Pathological Anatomy / Embryofetopathology Laboratory we carry out a systematic macroscopic and microscopic study, with a comprehensive and clinically oriented pathological diagnosis. We have the possibility of resorting to genetic and molecular diagnosis to complement the fetopathological and placental studies carried out. As it is a center complementary medical specialties, there is the possibility of a multidisciplinary integration of cases and evaluation of the clinical repercussions both in the future pregnancies, as well as in maternal or family in specific pathologies.
National reference in Embryofetal and Placenta Pathology.
The Unilabs Portugal Pathology/Embryo-Fetopathology Laboratory is a national reference laboratory in Embryo-Fetal and Placenta Pathology.
It mainly performs examination in the areas of obstetric and autopsy surgical pathology in particular:
- Early abortion - embryo and gestational sac (<11 weeks)
- Fetal / NeoNatal Autopsy (> 11 weeks)
- Surgical pieces /Ectopic pregnancy and Uterine pathology of pregnancy)
It also performs pathological examinations in the areas of Cytopathology and Surgical Pathology, including the area of Oncology, with the possibility of carrying out complementary molecular studies.
Complete list of exams performed at the Unilabs Pathology / Embryofetopathology Laboratory:
- Autopsy of fetus with 11 weeks or less (including ovular remains)
- Autopsy of fetus with more than 11 and less than 24 weeks
- Fetal autopsy of stillbirth, newborn or infant with or without preparation of the corpse for the funeral
- Patholocial study of the placenta
- Non-cervico-vaginal exfoliate cytology exam
- Non-cervico-vaginal cytological examination, with automated proocessing in a liquid medium
- Processing and cytological examination of fine needle aspirated material
- Histological examination of biopsy product with needle, forceps or similar
- Histological examination of a biopsy product with a needle, clamp or similar, complex
- Gross and histological examination of excisional biopsy product
- Macroscopic and histological examination of surgical resection specimens
- Gross and histological examination of surgical resection specimens with lymph node dissection, evaluation of margins and/or mapping
Chromosomal analysis performed with the microarray technique
The array CGH allows a detailed study of the entire genome. The set of solutions offered by the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) includes highly advanced analytical resolution thanks to the use of the most powerful and exhaustive technology available (CytoScan®, Affymetrix®), in addition to the clinical interpretation of the resultss performed by our medical geneticists. This combination of resources allows the observance of the strictest quality standards in the field of Medical Genetics.
The array CGH can be presented with different resolutions, the higher the resolution, the greater the diagnostic capacity.
Likewise, the solutions adopted by the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) are mixed arrays (oligonucleotides and SNPs), which provides additional sensitivity for the detection not only of variations in the number of copies (CNV), but also large regions of loss of heterozygosity (LOH).
The clinical application of this technique range from investigating the etiology of developmental delay and autism, to prenatal testing in high-risk pregnancies. The array CGH is currently considered a first-line technique and has already replaced the conventional karyotype in many countries.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) offers two models of CGH array:
Array CGH HD (with 2.700.000 markers):
1.953.246 oligonucleotides and 743.304 SNPs
Array CGH 750K (with 750.000 markers): 550.000 oligonucleotides and 200.436 SNPs
In recent decades, cytogenetic analysis for the study of chromosomal alterations associated with a human genetic disease and an acquired disease has undergone a substantial evolution.
Conventional cytogenetics, which included karyotyping, were associated with fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH), which contributed to increased applicability and realiability of cytogenetic analyzes.
Today, the field of cytogenetics reppresents an essential tool for genetic study and diagnosis.
At the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) we offer you numerous cytogenetic tests that use the most advanced technology available, the most qualified professionals and the interpretation of the results made by our geneticists, which results in a clinical and medical undeniable application.
The Cytogenetics Laboratory was the first laboratory area that was developed at the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics)
With more than 20 years of experience, it brings together a team of professionals exclusively dedicated and specialized in this field, as well as the most modern technological resources such as array chromosome study (or array CGH).
The chromosomal array study of the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) uses the best technology available internationally (CytoScan®, Affymetrix®).
The set of solutions offered by the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) includes highly advanced analytical resolution thanks to the use of the most powerful and exhaustive technology avaialble (CytoScan®, Affymetrix®), in addition to the clinical interpretation of the results performed by our medical geneticists.
This laboratory processes about 9.000 analyzes per year for various medical areas, from PreNatal Diagnosis, Hemato-Oncology or Reproductive Medicine to Pediatrics, with shorter response times.
Currently, the Unilabs Portugal Cytogenetics Laboratory (CGC Genetics) is responsible for more than 35% of the Prenatal Diagnosis analyzes carried out in Portugal.
The Molecular Diagnosis Laboratory has accompanied the evolution of medical genetics.
Equipped with highly specialized technicians and with extensive experience, it offers to the doctors a very extensive portfolio of genetic tests, from common pathologies to the rarest diseases.
It has a solid specialization in the area of oncology and pharmacogenetics, which complements the clinical diagnosis and monitoring of patients.
In this laboratory, exclusive tests by Unilabs Portugal (CGC Genetics) are also carried out, dedicated to the diagnosis of rare genetic diseases.
The most advanced technologies available for genetic diagnosis are applied in the Clinical Genomics Laboratory.
The use of next generation sequencing (NGS) allows sequencing in a single test, a gene, several genes (panel) or even include the entire exome. In this way, we manage to shorten deadlines, reduce costs, and mainly, increase the diagnostic capacity.
At the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics), we offer a wide variety of NGS panels for the detection of countless genetic diseases. We also have complete exome sequencing, clinical exome (includes 96% of clinically relevant genes) and mitochondrial DNA.
Thanks to its short response times and its ability to process a large volume of samples, this laboratory is the latest and most innovative image in medical genetics.
Next Generation Sequencing (NGS) allows one gene , several genes (panel) or the entire exome to be sequenced in a single test.
This technology represented a considerable advance in the capacity of genetic diagnosis by shortening timeframes and reducing costs.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) offers the best NGS options:
The Unilabs Portugal Medical Genetics Laboratory offers NGS panels for all specialties. These panels are constantly updated to be able to include more or fewer genes, depending on the clinical criteria.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) offers Exome Sequencing and combines the highest resolution available on the market with the interpretation and clinical integration of our Medical Genetics team.
Our laboratory has two different solutions for Exome Sequencing in order to better respond to the individual needs of patients:
1. Whole Exome Sequencing (WES)
Whole Exame Sequencing (WES) involves the sequencing or "reading" of all genomic coding regions (exons), which includes about 20 000 genes.
2. Disease Exome by Laboratorio de Genética Médica Unilabs Portugal (CGC Genetics)
The Disease Exome by Laboratorio de Genética Médica Unilabs Portugal (CGC Genetics) is one of the largest sequencing panels available, and includes more than 6.000 clinically relevant genes.
Mitochondrial DNA Study
This panel brings together the sequencing of 37 mitochondrial DNA genes, implicated in various mitochondrial diseases.
For more information, download the information brochure for healthcare professionals.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) introduced Prenatal Screening in Portugal in 1992, and since then we have led the evolution of this area in the country.
It was the first laboratory in Portugal to develop the First Trimester Screening, the first to apply the finger prick sample extraction method and the first to implement the Early Prenatal Screening program.
At this laboratory, more than 19.000 samples are processed per year.
Having information about the baby as soon as possible is the wish of any pregnant woman.
2-3 % of babies are born with various developmental problems possibly derived from chromosome alterations, congenital malformations, genetic diseases or caused by external agents (such as infections/ medications). Prenatal Screening makes it possible to identify pregnant women at higher risk in terms of some chromosomal abnormalities.
The Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) developed the Early Combined Prenatal Screening, which includes two phases.
The First Trimester Screening is currently accepted as the best form of prenatal screening for Down Syndrome (Trisomy 21), with high detection rates (between 90-97%) and low false positive rates (between 3-5%). This test combines values of biochemical parameters (free ßhCG y PAPP-A) with ultrasound parameters (nuchal translucency and nasal bone alterations).
This test also allows to calculate the risk of Trisomy 18 and Trisomy 13.
1. Taking blood samples for biochemical analysis (filter paper).
Between weeks 9 and 12 (preferably between weeks 9 and 10), the discriminatory power of PAPP-A between normal and abnormal values is considerably higher in this phase of pregnancy and increases the detection rate. The result is retained until receipt of the ultrasound data.
2. Ultrasound for the evaluation of nuchal translucency TN
Between weeks 11 and 12, the time interval in which NT has a greater discriminatory power between normal and abnormal values. With this early diagnosis protocol it is possible to obtain the greatest benefit, at the best moment, from each of the markers used.
Second trimester prenatal screening
Collection of blood samples (filter paper) performed between weeks 14 and 22 for the biochemical analysis of Alpha-fetoprotein (AFP) and the free beta fraction of Human Chorionic Gonadotropin (free β-hCG). Second trimester screening detects more than 98% of babies with anencephaly, 90% of cases of spina bifida, and 80% of cases of Down Syndrome and trisomy 18.
A Prenatal Screening test that indicates a reduced risk does not exclude the possibility that the baby has Down Syndrome, Trisomy 18 or another chromosomal abnormality, nor does it eliminate the possiblity of birth defects, mental retardation or other diseases not detectable by Prenatal Screening, Indicates that there is a low risk of presenting the anomalies considered.
To clarify any doubts , contact us or consult your doctor.
The TOMORROW Prenatal Test is the new test from the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics) that, from a maternal blood sample and in a non-invasive way, detects the presence of trisomies 21,18 in fetal DNA and13, fetal sex and the numerical changes of the sex chromosomes (Monosomy X, XXX, XXY, XYY).
Given the enourmous importance of answering your questions, the TOMORROW test is indeed excellent news!
Change of address for receiving samples
In order to continue offering better service to our clients, the reception of samples from the private Medical Genetics laboratory will change address.
All sample deliveries must be made to the following address:
Unilabs - Laboratório Central do Porto
Rua Manuel Pinto de Azevedo, 173
4100-321 Porto | Portugal
(entry through the side door of the building)
If you need more information, please contact us by calling the phone number: 223 389 900.
For delivery of samples for Embryofetopathology studies:
Unilabs - LAP Laboratório de Anatomia Patológica
Rua da Constituição 2087, 1º andar
4250-170 Porto | Portugal
CGC GENETICS PORTO
Rua Sá da Bandeira, 706 - 5º
- Telephone: +351 223 389 900
- Fax: +351 222 088 710
CGC GENETICS LISBOA
Unilabs Santo Amaro
Rua Jau, 18A 1300-358 Alcântara
- Telefone: +351 217 820 600
- Fax: +351 217 820 602
- E-Mail: firstname.lastname@example.org
CGC GENETICS MADRID
Calle Colombia, 47
- Telephone: +34 914 261 144
- Email: email@example.com
EUA & CANADA
CGC GENETICS Inc. / INSTITUTE OF GENOMIC MEDICINE
Medical Science Building - F661
New Jersey Medical School - Rutgers, The State University of New Jersey
185 South Orange Avenue,
Newark, NJ 07103
- Telephone: +1 973-623-1264; Toll Free:1-855-242-5229 (1-855-CGC-LABZ)
- Fax: +1 973 -623 -1266
- Email: firstname.lastname@example.org
You can download all the information related to our manuals:
Manual de Colheitas de Amostras (1.46 MB)
Teste Tomorrow (141.76 KB)
Testes Genética Médica Oftalmologia (243.32 KB)
Sequenciação Nova Geração (NGS) (411.51 KB)
Ginecologia e Obstetrícia (662.73 KB)
Array CGH (617.01 KB)
Rastreio Pré-Natal (204.97 KB)
Genética da Infertilidade (194 KB)
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