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Genetics


GENETIC COUNSELING AND GENETIC TESTS


Genes

Each person is unique. Part of what makes us unique is in our genes.

Genes are small structures within each cell, containing the instructions that define each individual, what they look like, and how they interact with the environment that surrounds them.

Genes are part of the inheritance of each individual: they are inherited from the parents and are passed onto the children.

Some gene mutations increase the possibility of developing certain diseases. Some  more serious than others and condition the quality of life of the individual and his family.

Gene mutations are usually passed through the family. When members of the same family have a genetic health problem, each family member may have an increased risk of developing these pathologies in the future.

These are called Genetic Diseases.

Genetic Diseases

The information for any given genetic disease is in the DNA (part of the cell containing the genes), it is born with the individual and is present in all his cells. The appearance of a genetic disease will depend on the genes themselves, on environmental factors or both.

Nowadays thousands of genetic diseases more or less incapacitating are known.

Advances in science have made it possible to diagnose many of them, enabling individuals to cope with their illness. Prevention before symptoms appear is possible with the new medication now available for  each situation, or by supporting couples who know the risks of transmission of genetic diseases and wish to have healthy children. 


Out-Patient Genetic  Consultation

The family doctor is able to identify a possible risk for a genetic disease in an individual or family. It is normally the G.P. that refers the individual or family to a Genetic Consultation.

When an individual or a couple:
  • wish to know if a certain problem, which exists in the family may occur once again;
  • a problem does not exist in the family, but there is a history of consanguinity that worries him;
  • wish to have children at a much older age than usual;
  • present a history of infertility or repeated abortions;
  • want to know if there is a risk for multifactorial diseases.

The first step is to consult the family doctor or another specialist (gynecologist, neurologist, oncologist, etc.).

As a rule, this first contact will sooner or later result in the couple or individual seeking a Geneticist.

The Geneticist will try to reach a diagnosis by: studying the individual or couple including family history. He will study exam results and ponder the need for further tests. Genetic diseases are frequent and are an important cause of human morbidity and mortality.


Genetic Tests

Collaboration  between Hospital Particular do Algarve and CGC Genetics® (Centro de Genética Clínica).

The Hospital Particular do Algarve has established a partnership with the CGC Genetics® where the HPA is the Associate Laboratory for all CGC analyzes. 

Genetic testing helps diagnose a disease and can identify an individual’s genetic make-up as well as that of his children. These tests do not reach a diagnosis but indicate problems risks and help prevent the disease.

For every situation in life; Prenatal Screening, Prenatal Diagnosis, Genetic Diseases, Cardiovascular Diseases, Oncology, etc., there are genetic tests available and there is a need to know their benefit and limitations.

Colon Cancer Screening in Peripheral Blood

The Hospital Particular do Algarve in partnership with the CGC Genetics®, has made available a new test for early detection of Colon Cancer at your fingertips through a simple blood test. It is necessary to establish an early detection program for people over the age of 50, who are symptom-free

Combined Screening and Early Prenatal Diagnosis

The desire of any pregnant woman is to have as much information as possible on her unborn baby.  2 to 3% of babies are born with an abnormality. Some of these anomalies can be identified during pregnancy through prenatal screening. Prenatal screening identifies pregnancies with an increased risk of Down Syndrome (trisomy 21), Edwards Syndrome (trisomy 18) as well as Defects of the Neural Tube.

Security is knowing as much as possible on the unborn infant.

At the Hospital Particular do Algarve,  Prenatal Screening is possible (First Trimester Combination, Early Combination and Second Trimester), as well as the Prenatal Diagnosis.

 

DPN plus +

With a small sample of amniotic fluid a conventional fetal chromosomal study (karyotype and detection of aneuploidies) is performed. However, CGC has developed a new approach in obtaining more information on the fetus. With this new technology known as the DPN plus +, more information can be obtained on the fetus, resulting in a timely management of diagnostic options in a prenatal follow-up.

 

Pre-natal+

A new step in prenatal diagnosis.

This test prenatal test detects in a single analysis, several syndromes associated with mental retardation. The incidence of Down Syndrome is estimated to be approximately 1/800 births. However, there are other syndromes associated with mental retardation and development that together have a higher incidence: about 1/200.

The diagnostic capability of Pre-Natal + is an example of how useful this new technology is in prenatal diagnosis, permitting additional information which is both accurate and fast. Combining this test with traditional routine methods, the rate of detection of chromosomal abnormalities increases substantially, enabling the exclusion of diseases associated with mental retardation not detectable by karyotype.

 

Infertility

Approximately 15% of Portuguese couples are infertile. Approximately one third of infertile Portuguese women are unaware of the reason for their infertility. Studies suggest that 10% of men and 15% of women have genetic alterations (in chromosomes and genes) related to infertility.

 

Screening Diabetes / Obesity

Did you know that you can find out if you are at risk of developing diabetes / obesity with a simple finger prick?

The Hospital Particular do Algarve in partnership with CGC Genetics provides the first analysis for screening of genetic factors related to Diabetes / Obesity for preventive purposes. Genetic testing for risk of Diabetes / Obesity may be the only way of detection at a pre-clinical stage, i.e. identifying situations where early treatment may prevent the development and evolution of the disease, before the onset of symptoms or organ damage.

 

Obesity

Fat accumulation is a genetically regulated trait, and some people are born with a predisposition for being overweight.

Today we know that 40% to 70% of excess weight has a genetic background, and that the identification of certain genetic factors is an important tool in the treatment of obesity.

 

Baby plus

The Hospital Particular do Algarve provides a variety of neonatal tests by microarray, to identify common diseases in newborn babies that are not normally tested. Some of these diseases are nonetheless frequent and important for the baby’s development (Lactose Intolerance, Intolerance to Fructose, Celiac Disease, Alpha-1 Antitrypsin and Hemochromatosis). These are diseases that develop when genetic variants of predisposition and environmental factors are present. The identification of these genetic variants from birth, results in the prevention of these environmental factors, thus helping to prevent the appearance of the diseases or symptoms.