Genetic testing

If unfamiliar with genetic testing you will find valuable and relevant information here. Counseling recommendations concerning genetic testing 

To the general population genetic tests don't yield easy-to-understand results. They can reveal the presence, absence, or malformation of genes. Deciphering what these complex tests mean requires assistance by health professionals. 

     A genetic counselor is a medical genetics expert with a Master of Science degree or doctors or nurses with special training in the subject. Genetic counselors are expert educators, skilled in translating the complex language of genomic medicine into terms that are easy to understand.

     People seeking genetic counseling may be newly diagnosed patients, new parents or couples planning a pregnancy, or family members concerned that they too may carry a disorder. The genetic counselor can help identify and interpret the risks of an inherited disorder, explain inheritance pattern, suggest testing, and lay out possible scenarios. They will refer you to a laboratory for the actual tests. They will explain the meaning of the medical science involved, provide support, and address any emotional issues raised by the results of the genetic testing.

     Genetic counseling touches very deeply on human emotions of guilt, grief and fear, and on deeply felt moral beliefs. Counselors are trained to help people through the inevitable emotions that a diagnosis arouses – and which ripple through the whole family because of their shared genetic inheritance. No two patients are the same, and genetic counseling has to be sensitive to the fact that a diagnosis can have very different meaning to different people.


Genetic counseling is a communication process that deals with the occurrence, or risk of occurrence, of a genetic disorder in the family. The process involves an attempt to help the individual or the family to

        • understand the medical facts of the disorder
        • appreciate how heredity contributes to the disorder and the risk of recurrence in specified relatives
        • understand the options for dealing with the risk of recurrence
        • use this genetic information in a personally meaningful way that promotes health, minimizes psychological distress and increases personal control
        • choose the course of action which seems appropriate to them in the view of their risk and their family goals, and act in accordance with that decision;
        • make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence of that disorder


     With more than 900 disorders caused by mutations in more than 10.000 genes however it can be an almost impossible task for the genetic counselor to comprehend the enormous amount of information involved in the interpretation of the laboratory test result relative to the disorder under investigation. In this case alliances between specialized clinical doctors may be advisable.

     Amplexa Genetics provide the following services in which case genetic counseling may appropriate.

  Diagnostic testing 

Diagnostic testing involves genetic tests performed in a symptomatic individual to confirm or exclude a genetic condition. This is usually not very different from other medical tests performed in order to achieve a diagnosis, except for the possible involvement of relatives or implications concerning them. Pre-test genetic counseling may not always be necessary. As in case of any medical test, there should be free and informed consent which includes pre-test information, minimally what the test is for and what its implications are for the tested and for the family. If the test result is positive, the patient and the relatives should be offered genetic counseling. Even when the test result is negative, genetic counseling may be indicated.



Predictive testing 

Predictive testing often termed "presymptomatic testing" refers to genetic testing in a healthy high-risk relative for a specific later-onset monogenic disorder. The mutation in the family leads to the disease or a considerably high risk for the disease. Even if the family has previously been counseled, further pre- and post-test genetic counseling has to be offered, often accompanied by psychosocial evaluation and support.

  Carrier testing 

Carrier testing refers to a genetic test that detects a gene mutation that will generally have limited or no consequence to the health of that individual. However, it may confer a high risk of disease in the offspring, if inherited, from one parent or in combination with the same or another mutation in the same gene from the other parent. Pre- and post-test genetic counseling needs to be offered.

  Prenatal testing 

Prenatal testing refers to a genetic test performed during a pregnancy, where there is increased risk for a certain condition in the fetus. Pre- and post-test genetic counseling for the prospective parents needs to be offered.