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Why Genetic Testing?
Genetic testing provides information about your genes and chromosomes.
It is a medical test that can identify alternations in chromosomes, genes
and proteins. It can be either:
- Diagnostic test: identifying the genetic abnormalities causing the observed symptoms, thereby diagnosing a medical condition, or
- Predictive test: identifying genetic variants associated with disorders that may appear later in life, thereby assessing a person’s chances of developing a medical condition or passing it on to their children.
Genetic testing can provide answers to present or future concerns, making
it important that it is considered at the forefront of health and well-being.
What is Genetic Disease?
Genetic disease can be caused by a change in the DNA sequence which
can lead to harmful consequences on the protein function. Those changes
can arise by a mutation in one gene (monogenic disorder), by mutations in
multiple genes (polygenic disorder) or by damage to chromosomes
(changes in the number or structure of entire chromosomes).
Classes of Genetics Mutations
- Germline: mutations causing genetic disorders carried on the sperm or egg, that can be inherited from one or both parents and are therefore present in the child at birth. Other Germ mutations are acquired; meaning the change was not inherited but appears for the first time in one family member as a result of a variant in the egg or sperm, or in the fertilized egg. Those can occur either randomly or due to environmental exposure.
- Somatic: mutations or genetic changes are not inheritable; they occur in somatic (body) cells at any time before or after birth; some of it are pathogenic and contribute to disease development
Genetic Test Technologies?
Several methodologies are used to perform genetic testing:
- Chromosomal analysis, karyotyping and fluorescence in situ hybridization (FISH)
- Next generation sequencing (NGS)
- Multiplex ligation-dependent probe amplification (MLPA)
The Testing Process
Initial Consultation
Your journey begins with a consultation—either with your healthcare provider or one of our certified genetic specialists. This step helps determine which test is right for you and answers any questions you may have.
Sample Collection
A simple saliva or blood sample is collected at our clinic. This sample contains the DNA needed to uncover your unique genetic information.
DNA Extraction
In our state-of-the-art lab, we extract and isolate your DNA from the sample to prepare it for analysis.
Data Analysis
Our advanced genomic technologies analyze your DNA for specific markers related to health risks, traits, or treatment responses—depending on the test you've chosen.
Results Discussion
Once your results are ready, you’ll meet with your provider or a Genatechs specialist to review the findings, what they mean for your health, and the next steps tailored to your needs.
Types Of Testing
Whole Genome Sequencing
Whole Genome Sequencing
Whole Genome Sequencing
- Examines your entire DNA (all ~20,000 genes plus non-coding regions).
- Like reading every page of a giant instruction manual for your body.
- Can detect rare or unexpected genetic variants, but requires more analysis.
Whole Exome Sequencing
Whole Genome Sequencing
Whole Genome Sequencing
- Analyzes only the exome (~1-2% of DNA that codes for proteins).
- Covers most disease-related genes but skips non-coding regions.
- Useful when symptoms don’t match a known condition.
Gene Panels – Targeted Testing for Specific Conditions
Gene Panels – Targeted Testing for Specific Conditions
Gene Panels – Targeted Testing for Specific Conditions
- Checks a selected group of genes (example: 50+ genes for cardiomyopathy).
- Faster and more cost-effective for known conditions.
- Example: A "Cardiac Arrhythmia Panel" looks only at genes linked to irregular heartbeats.
Single Gene Testing – The Most Precise Option
Gene Panels – Targeted Testing for Specific Conditions
Gene Panels – Targeted Testing for Specific Conditions
- Analyzes one specific gene (example: MYH7 for hypertrophic cardiomyopathy).
- Used when a particular mutation runs in the family.
- Fastest and most affordable, but only looks at one cause.
What will my genetic test results look like?
Negative Result
Negative Result
Negative Result
This means no genetic changes (mutations) associated with the condition(s) tested were found. While this is reassuring, it doesn't rule out all risks—your provider may still recommend routine monitoring based on personal or family history.
Positive Result
Negative Result
Negative Result
A positive result indicates that a meaningful genetic change was found that may increase your risk for a certain condition or affect how your body responds to medications. Your healthcare provider or genetic counselor will explain what this means and help you create a personalized plan moving forward.
Variant Unknown
Negative Result
Variant Unknown
Sometimes, a genetic change is found, but its impact on health is not yet fully understood. These results are not immediately actionable, but they may be reclassified in the future as more research becomes available. We will stay in touch and update you if new information arises.