Molecular Genetic Testing

→ list of Molecular Genetic Tests offered by IMMD


The Range of Molecular Genetic Testing

Molecular genetic testing, also known as gene testing or DNA tests, involves the examination of an individual's DNA. DNA makes up the genes which determine characteristics in living organisms, such as eye colour , height, or a condition for certain hereditary diseases.
Genetic testing detects the presence, absence or alteration of a particular gene sequence through a variety of experimental steps. IMMD laboratories apply techniques such as PCR, DNA sequence analysis, CSGE, WAVE technology and others; all aimed at identifying unambigously disease associated gene alterations.
Molecular genetic testing can be used in all cases when specific gene alterations are clearly linked to a clinical phenotype, and / or when gene mutations predispose to a disease.
IMMD provides genetic tests for the diagnosis of a wide range of hereditary diseases. These include tests for hereditary diseases in conjunction with
  • Lipid disorders (for example Hypercholesterolemia)
  • Diseases with outbreak in early childhood (for example Cystic Fibrosis)
  • Family cancer (for example, Hereditary Breast and Ovarian Cancer)
  • Thrombosis (for example Factor V Leiden Mutation)
  • Sterility / Infertility (for example Azoospermia)
  • Metabolism (for example Hemochromatosis)
  • Muscle disorders (for example Muscle Dystrophy of type Duchenne & Becker) and others.

For the full list of diagnostic tests please contact: Molecular Genetic Testing

Presymptomatic Testing and Family Care

An increasing role play presymptomatic diagnostic tests. Based on your family background for a certain diseases and on screening for specific disease associated mutations in your genome, genetic testing can help in evaluating this risk.
For example, up to 10 percent of all cancers are inherited. Genetic testing can give you answers about your risk of inherited cancers by analyzing your genes for mutations responsible for inherited cancer risk . Results will help you make informed decisions about your options for early cancer detection and risk reduction. Even if you have already been diagnosed with cancer, genetic testing can provide important information about your risk for a second cancer, which can help your doctor determine the most effective medical management strategy for you.
Genetic testing also provides information important to your family members, especially close relatives. In the case that you have inherited gene mutations that increase the risk, there's chance that your parents, brothers and sisters or children might have these mutations, too. For example, when the causative mutation of a genetic condition is known, presymptomatic diagnosis of family members is often possible and may offer an important opportunity for disease prevention.

Genetic Testing to Improve Preventive Care

The largest genetic contribution to health is in the form of common variants that increase or decrease risk to a moderate degree. They have potential implications for a larger number of people. One example offers insights into the implications of genetic tests of this kind:  Factor V Leiden.

Factor V Leiden
offers another example. This Factor V gene mutation results in up to an eightfold increased risk of venous thrombosis. More than half of the thromboembolic events associated with Factor V Leiden occur when other risk factors, such as surgery or use of oral contraceptives are also present. Both gene–gene and gene–environment interactions contribute to the overall risk of venous thrombosis. A positive test identifies people at increased risk for venous thrombosis. Interventions such as prophylactic anticoagulation therapy or avoidance of risk factors might be considered. The reports given by IMMD explain these relationships to you.

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The analysts are performed by highly skilled biologists with a Laboratory director ( Dr. Eva Spitzer) who is licensed by the State of Germany. Our laboratories must pass periodic inspections and external quality trials (see chapter Quality Trails ).


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