The Molecular Diagnostic Laboratory has followed the evolution of medical genetics.

Equipped with highly specialized technicians and with extensive experience, it provides doctors with a very wide portfolio of genetic tests, from common pathologies to the rarest diseases. 

It has a strong specialization in the field of Oncology and Pharmacogenetics, complementing the clinical diagnosis and patient follow-up. 

It is also in this laboratory that the exclusive tests of Unilabs Portugal (CGC Genetics) are developed, 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 new generation sequencing (NGS) allows sequencing, in a single test, a gene, several genes (panel) or even including the complete exome. Thus, it was possible to shorten deadlines, decrease costs and, mainly, increase the diagnostic capacity.

At the Unilabs Portugal Medical Genetics Laboratory (CGC Genetics), we offer a wide range of NGS panels for the detection of numerous genetic diseases. We also have available complete sequencing of the exome, the clinical exome (includes 98% of clinically relevant genes) and mitochondrial DNA. 

With reduced response times and the ability to process large volumes of samples, this laboratory represents the most innovative and recent face of medical genetics. 

New generation sequencing (NGS) allows in a single test to sequence a gene, several genes (panel) or the complete exome.

This technology allows a significant advance in the capacity for genetic diagnosis by shortening deadlines and reducing costs. 

The laboratory offers the best NGS options: 

• NGS Panels

The laboratory provides NGS panels for all specialties. These are constantly updated, and may include more or less genes, according to clinical criteria. 

• Exome Sequencing 

The laboratory provides Exoma Sequencing, combining the maximum resolution available on the market with the interpretation and clinical integration of our Medical Genetics team. 

The laboratory has two different solutions for Exoma Sequencing, in order to better fit with the individual needs of patients: 

1. Whole Exome Sequencing (WES)

The sequencing of the complete exome, or Whole Exome Sequencing implies the sequencing or "reading" of all the coding genomic regions (exons), which includes about 20,000 genes; 

2. Disease Exome by Laboratório de Genética Médica (CGC Genetics)

The Disease Exome is one of the largest sequencing panels available that includes more than 6,000 clinically relevant genes. 

• Study of DNA Mitocondrial 

This panel includes the sequencing of 37 mitochondrial DNA genes, which are implicated in different mitochondrial diseases. 

For more information, download the information brochure for healthcare professionals. 

Chromosomal analysis performed using the microarray technique

The CGH array allows a detailed study of the entire genome. The majority of solutions offered by this laboratory include a very high analytical resolution using the most robust and comprehensive technology available (CytoScan ® , Affymetrix ® ), together with a clinical interpretation of the results carried out by our geneticists. This combination of resources allows the highest standards of quality to be met in the field of Medical Genetics. 

The CGH array can be presented with different resolutions, having the highest resolution, the greatest diagnostic capacity. 

In addition, the solutions adopted by the Laboratory are mixed arrays (oligonucleotides and SNPs), which gives it additional sensitivity for the detection not only of copy number variants (CNV), but also of large regions of loss of heterozygosity (LOH). 

The clinical applications of this technique range from researching the etiology of developmental delay and autism, to prenatal study in high-risk pregnancies. The CGH array is currently considered a first-rate technique, having already replaced the conventional kayotype in many countries. 

The Laboratório de Genética Médica Unilabs Portugal (CGC Genetics) offers two models of CGH array: 

• Array CGH HD (com 2.700.000 markers): 1.953.246 oligonucleotides e 743.304 SNPs

• Array CGH 750K (com 750.000 markers): 550.000 oligonucleotides e 200.436 SNPs 

The Laboratório de Genética Médica Unilabs Portugal (CGC Genetics) has medical geneticists specialized in clinical evaluation and genetic counseling in the context of dysmorphology, neurogenetics, prenatal genetics and family cancer. 

The medical genetics consultation consists of a doctor-patient interaction that addresses problems related to the presence of a genetic disease and its risk of recurrence in family members. It is process that helps patients to understand and adapt to the medical, psychological and family implications that genetic disease entails. 

This process integrates: 

• The collection and interpretation of personal and family history to determine the possibility of recurrence of a genetic disease. 

• The provision of 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 condition of each patient. 

In the past few decades, cytogenetics analysis for research of chromosomal changes associated with human genetic disease and acquired disease has undergone a significant evolution. 

Conventional cytogenetics, which included the study of the karyotype, was associated with fluorescence in situ hybridization (FISH) and comparative genomic hybridization (CGH), contributing to increase the applicability and reliability of cytogenetic analyzes. 

Currently, the field of cytogenetics represents a vital tool in the study and genetic diagnosis.

At this laboratory we have made available numerous cytogenetic tests using the most advanced technology available, the most qualified professionals and the interpretation of the results carried out by our geneticists, which gives a clear clinical and medical application. 

The Cytogenetics Laboratory was the first laboratory area to be developed at the Medical Genetics Unilabs Portugal Laboratory (CGC Genetics) 

With over 20 years of experience, it brings together a team of professionals exclusively dedicated ans specialized in this area, and the most modern technological resources such as the chromosomal array study (or CGH array). 

The chromosomal array study carried out by the Laboratory of Medical Genetics uses the best technology available internationally (CytoScan®, Affymetrix®).

The CGH array made available by the laboratory in addition to the highest analytical resolution (750K or 2.7M) also includes a clinical interpretation performed by medical geneticists. 

This laboratory processes about 9,000 analyzes per year, for different medical areas, from Prenatal Diagnosis, Hemato-Oncology, Reproductive Medicine to Pediatrics, with reduced response times. 

Currenty, the Unilabs Portugal Cytogenetics Laboratory is responsible for more than 35% of the Prenatal Diagnosis analyzes carried out in Portugal. 

The Laboratório de Genética Médica Unilabs Portugal (CGC Genetics) introduced Prenatal Scereening in Portugal in 1992, and since then it has led the evolution of this area in the country. 

It was the first laboratory in Portugal to develop the 1st quarter screening, the first to apply the finger prick collection method and the first to implement the Early Prenatal Screening approach. 

In this laboratory, more than 19,000 samples are processed per year. 
 

To know information about the baby as soon as possible is the wish of any pregnant woman. 

Two to three percent of babies are born with various developmental problems that can result from changes in chromosomes, congenital malformations, genetic diseases or caused by external agents (such as infections/medications). Prenatal screening allows pregant women to be at increased risk for some chromosomal abnormalities. 

The Laboratory developed the Early Combined Prenatal Screening that makes place in two fases.  

The 1st Trimester Screening is currently accepted as the best means of prenatal screening for Down Syndrome (Trisomy 21), with high detection rates (90 to 97%) for reduced false positive rates (3 to 5%). This test combines values of biochemical parameters (free ßhCG e PAPP-A) with echographic parameters (translucency of the nape and bones of the nose). 

This test also allows calculating the risk for Trisomy 18 and Trisomy 13. 

1. Blood collection for biochemical analysis (filter card) 

Made from 9 to 12 weeks (preferably from 9 to 19 weeks). The discriminative power of  PAPP-A, between normal and abnormal values, is significantly greater at this stage of pregnancy, increasing the detection rate. The result is retained until receiving the ultrasound data.

2. Ultrasound to assess the nuchal translucency TN 

Performed between 11 and 12 weeks, time interval in which NT presents greater discriminative power between normal and abnormal values. With this early protocol it is possible to extract the greatest benefit, at the best time, from each of the markers used. 

Second trimester prenatal screening

Blood collection (filter card) performed between 14 and 22 weeks for biochemical analysis of Alfafetoprotein (AFP) and free Human Chorionic Gonadotropin (free β-hCG). The 2nd trimester screening detects over 98% of babies with anencephaly, 90% of spina bifida cases and 80% of Down syndrome and trisomy 18 cases. 

A Prenatal Screening test that indicates a reduced risk does not exclude the possibility of the baby having Down Syndrome, Trisomy 18 or another chromosomal abnormality, nor does it eliminate the possibility of birth defects, mental retardation or other diseases not detectable by Pre-Screening Natal, indicates there is a low risk for the anomalies considered. 

To clarify any doubts, contact us or consult your doctor. 

TOMORROW Prenatal Test is the new test of the Laboratório de Genética Médica Unilabs Portugal (CGC Genetics) that, from a sample of material blood and in a non-invasive way, detects in the fetal DNA the presence of trisomies 21,18 and 13, the fetal sex and numerical changes in sex chromosomes (Monosomy X, XXX, XXY, XYY).

Because answering your questions is so important, TOMORROW is indeed good news! 

Learn more here 

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 pieces and the microscopic examination of surgical pieces and the microscopic examination. In different areas it can be done based on the cytopathological exam. Autopsy diagnosis is increasingly limited to embryo-fetal and neonatal clinical autopsies. 

In recent decades, embryofetal/neonatal autopsy and the pathological anatomical study of the placenta have assumed a prominent palce in establishing the cause of fetal/neonatal loss and in understanding the repercussions of injuries on child development in childhood and school age. 

The Laboratory of Pathological Anatomy/ Embryofetopathology Unilabs is composed of a team of Physycians Specialists in Pathological Anatomy, Technicians Licensed in Pathological Anatomy, Technicians Licensed in Pathological Anatomy and Administrators, who preferentially develop their activity in the field of obstretic surgical pathology: placenta, embryo, fetus, newborn, uterine pathology in the context of pregnancy or postpartum and ectopic pregnancy.  

At the laboratory we carry out a systematic macroscopic and microscopic study, with an integrated and clinically oriented pathological diagnosis. We have the possibility of resorting to genetic and molecular diagnosis, complementing the fetopathological and placental studies carried out. As it is a center with complementary medical specialties, it is possible to integrate multidisciplinary cases and assess the clinical implications both in future pregnancies, whether maternal or family members in specific pathologies. 

National Reference in Embrio-Fetal and Placenta Pathology 

The Laboratory of Pathological Anatomy/Embryofetopathology Unilabs Portugal is a national reference laboratory in Embrio-Fetal and Placenta Pathology. 

It preferably performs examinations in the areas of obstetric surgical pathology and autopsy, namely: 

• Early Abortion - embryo and gestational sac (< 11 weeks) 
• Placenta
• Fetal / Neonatal Autopsy (> 11 weeks)
• Surgical pieces (Ectopic pregnancy and Uterine pathology of pregnancy)

It also performs anatomical 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 tests performed at the Unilabs Pathological Anatomy/Embryofetopathology Laboratory: 

• Autopsy of fetus 11 weeks or less (including ovarian remains) 
• Autopsy of fetus over 11 and under 24 weeks
• Fetal Autopsy of stillbirth, newborn or infant with our without corpse preparation for funerals
• Anatomopathological study of the placenta 
• Examination of non-cervico-vaginal exfoliate cytology
• Non-cervico-vaginal cytological examination, with automated liquid processing
• Processing and cytological examination of the needle aspirate
• Histological examination of a biopsy product using a needle, forceps or similar 
• Histological examination of biopsy product by needle, forceps or similar, complex
• Macroscopic and histological examination of excisional biopsy product
• Macroscopic and histological examination of a surgical resection specimen
• Macroscopic and histological examination of a surgical resection specimen with ganglion dissection, margin evaluation and/or mapping

The designation of rare disease is attributed to pathologies that affect less than 5 in every 10,000 individuals. According to the World Health Organization (WHO), there are about 7,000 rare diseases that affect 7% of the world population. 

Many of these diseases have an autosomal recessive inheritance, that is, for the individual to be affected, both copies of the gene must have a mutation. 

A large part of the population carries a mutation in a gene that causes recessive disease. The offspring of two carriers of a mutation in the same gene may develop the disease corresponding to the mutated gene. 

The Laboratório de Genética Médica Unilabs Portugal (CGC Genetics) makes it possible to conduct a study of carriers to couples who wish to have descendents, or to a member of the couple and to the donor, thus excluding the possibility of both being carriers of a mutation in the same gene, thus preventing the offspring from suffering from a rare-disease. The X-linked recessive genetic diseases, most common in the population are cystic fibrosis, fragile X syndrome and spinal muscular atrophy. 

At the Laboratory, we provide you with several tests of patients, depending on the diagnostic coverage that the patient os specialist intends to assume: 

1. BASIC CARRIER TEST 

- Woman: Includes cystic fibrosis, fragile X syndrome and spinal muscular atrophy

- Man: Includes cystic fibrosis and spinal muscular atrophy

2. TEST OF CARRIER PLUS 

Complete sequencing of 100 genes that cause the most prevalent rare diseases through NGS. 

It is possible to complement the Plus carrier test with the study of spinal muscular atrophy, fragile X syndrome and Alpha-thalassemia. 

This test is aimed at couples with the intention of having children and who wish to rule out the occurrence of prevalent and/or rare genetic diseases.

In this way, it is also especially aimed at inbreeding couples. 

Our bodies are made up of millions of cells. Most cells contain a complete set of genes. Genes act as a set of instructions, controlling our growth and the way the body works. They are responsible for many of our characteristics, such as eye color, blood group or height. We have thousands of genes. Each of us inherits copies of most genes, one copy in inherited from our mother and one from our father. That is why we often have some characteristics pf both. 

The genes are contained in ribbon-like structures, called chromosomes. We usually have 46 chromosomes in each of most of our cells. Chromosomes are inherited from our parents, 23 from the mother and 23 from the father, so we have two sets of 23 chromosomes or 23 "pairs". Chromosomes, and therefore genes, are composed of a chemical called DNA. 

Sometimes a change (mutation) occurs in the copy of a gene or chromosome, which prevents it from functioning properly. This change can cause a genetic disease, because the gene fails to communicate the correct instructions to the body. Some examples of genetic diseases include Down's syndrome, paramyloidosis, cystic fibrosis and Duchenne muscular dystrophy. 

There are some situations that increase the probability of being a carrier for a certain genetic disease or chromosomal rearragement: 

- If someone in the family has an autosomal recessive disease, an X-linked disease or a chromosomal rearrangement.

- If someone in the family has a recessive disease, X-linked disease or chromosomal rearrangement. 

- If you already have a child with a recessive disease, X-linked disease, or chromosomal rearrangement. 

- If you have specific ethnic roots that make you more likely to have a genetic disease. Examples are sickle cell anemia in Africans and their descendants, beta-thalassemia in Mediterranean peoples or Tay-Sachs disease in Ashkenazi Jews. Although more common in these populations, these diseases can occur in others. 

Even if none of these reasons exist, you may decide to have a carrier test because your partner has a particular recessive disease. 

In this case, the results of your test may help you to find out if your future children are at an increased risk of developing this genetic disease. 

A genetic test can help identify whether there is a change in a particular gene or chromosome. It is usually a blood or other tissue test. 

Genetic testing can be performed due to different situations, such as: 

- You had a child with learning difficulties, developmental delay or health problems, which your doctor considered may be a genetic disease. 

- Your doctor has diagnosed a possible genetic disease and wants to confirm your diagnosis. 

- There is a genetic disease in your family, and you want to know if you have a high risk of developing it throughout your life.

- One of the members of the couple has a genetic disease in the family, which can be passed on to your children. 

- You have had other tests during pregnancy (such as an ultrasound scan or blood test) that showed an increased risk of your baby having a genetic disease. 

- Had a miscarriage or stillborn. 

- You have several close family members who have developed certain types of cancer. 

- You have an increased risk of having a child with a given genetic recessive disease, due to your ethnic origin. Examples of this are sickle cell anemia (or sick cell disease) in people of African origin, thalassemia in people in southern Europe and around the Meditarrean, cystic fibrosis (or mucoviscidosis) in people from western Europe and Tay disease - Sachs in people of Ashkenazi descent (Jews from central Europe). These are more common diseases in some populations, but they can occur in others. 

It is not always necessary for the doctor to order a genetic test. He can diagnose a genetic condition through a clinical examination, or tell you what your risk is by analyzing a detailed family history. 

A predictive test can provide information on whether or not the person will develop (pre-symptomatic test) or have a greater predisposition to develop a specific problem (suceptibility test). usually at a later stage in their life. 

If there is a known genetic disease in your family and the altered gene that causes the disease is known, then you may want to perform a predictive test to check whether you have inherited that altered gene.