What is genetic testing?
Genetic testing identifies changes in one or more chromosomes or genes associated with a hereditary disorder. The results of a genetic test can confirm or exclude a suspected genetic condition or help determine a person’s chance of developing or passing on a disease to one’s children. There are many genetic changes associated with different types of diseases. The specific test will vary based on a person’s individual circumstances.
Who should consider genetic testing?
The indications for genetic testing are diverse. In almost all areas of medicine doctors encounter clinical disorders caused (at least in part) by genetic changes. Genetic testing is indicated when a patient or a member of his/her family is affected by any of the following:
- Eye Diseases
- Vascular and Connective Tissue Disorders
- Heart Diseases
- Brain Malformations / Neuronal Migration Disorders
- Hepatic and Pancreatic Diseases
- Pulmonary Diseases
- Nephrology Endocrinology and Electrolyte Disorders
- Neurogenetic Disorders
- Neuromuscular Disorders
- Mental Retardation and Dysmorphology
- Metabolic Diseases
- Hereditary Cancer Syndromes
- Severe Recessive Childhood Diseases
How is genetic testing helpful?
- Confirmation of diagnosis: Many medical conditions share identical or similar traits or symptoms. Genetic diagnosis can help confirm or exclude a specific cause and differentiate a particular disorder from other medical conditions, thereby affecting your clinical diagnosis.
- Testing at-risk family members: Genetic diagnosis in one family member may enable testing of relatives at risk of inheriting or having inherited a genetic change. This knowledge may have a direct effect on treatment, therapy, and preventative care.
- Exclusion of risk: Genetic testing can also show that you have not inherited the genetic change responsible for causing a condition in your family, and that you need no further clinical care.
- Treatment tailored to your needs: Genetic diagnosis enables your doctor to identify and evaluate your personal medical needs, and can help fine-tune your treatment, therapy, and follow-up care.
- Meaningful and accurate advice: Genetic diagnosis means meaningful and accurate counseling for you and your family and enables your physician to estimate the risk of recurrence in your family.
- Informed family planning: Genetic diagnosis makes it possible for your doctor to make recommendations regarding family planning and the possibility of prenatal or pre-implantation genetic diagnosis.
What are the limitations of genetic testing?
Genetic testing can provide only limited information about an inherited disease. Testing cannot always determine:
- If an individual will develop clinical symptoms of a disease
- The severity of symptoms should they develop
- Whether symptoms will worsen or improve with therapy
There is also often a lack of treatment strategies for genetic diseases subsequent to diagnosis.
A clinical professional can explain to you in detail the benefits, risks, and limitations of a particular test. It is important that any person considering genetic testing understand and weigh these factors before making a decision. Genetic counseling is a good way to start.
How much does genetic testing cost?
The cost of a genetic analysis depends on the type of test. Clinicians and patients are welcome to request pricing for genetic analyses performed at MGZ. Please note that testing can be ordered only by a qualified medical professional.
For detailed cost and billing information, please click here.