Genetic Testing & Diagnosis
Genetic testing analyzes a DNA sample, usually from blood or saliva, to look for changes in genes that cause or increase the risk of inherited conditions. It can confirm a suspected diagnosis, explain unclear symptoms, or clarify family risk. Results are complex, so expert genetic counseling is included to interpret them.
Medically reviewed by the Florence Healthcare medical team · Last reviewed June 2026
Overview
Genetic testing examines your DNA to find changes (variants) in specific genes. Depending on the clinical question, it can confirm a suspected inherited condition, help explain symptoms that have not been diagnosed, or clarify whether a condition seen in your family may affect you. It is important to understand what a given test can and cannot tell you: many tests target particular genes rather than the whole genome, and not every result is clear-cut. Some findings are uncertain, and a result that shows no change does not always rule out every possible cause.
Our on-site genetic diagnosis laboratory performs the analysis, and a clinical genetics team reviews the findings alongside your medical and family history. Because genetic results can be nuanced and carry emotional, family, and privacy implications, genetic counseling is part of the process rather than an optional extra. Results are frequently used within a multidisciplinary team so that any medical follow-up, monitoring, or referral is planned around your individual situation.
For international patients, a coordinator arranges the referral and organizes pre-test genetic counseling and a transparent, itemized cost estimate before you travel. The counseling explains the purpose and limits of the test in plain language, and results can be reviewed and discussed remotely with the team after you return home.
Who is a candidate?
- You or your doctor suspect an inherited or genetic condition that a test could confirm or rule out
- You have symptoms that remain undiagnosed and may have a genetic cause
- A specific genetic condition runs in your family and you want to understand your own status
- You are planning a family and want to clarify carrier status or reproductive risk
- A relative has a known genetic variant and testing could show whether you carry it
- You want expert guidance on whether testing is appropriate and what it would mean for you
What happens
- 1
Referral & pre-test counseling
A clinical genetics specialist reviews your medical and family history, discusses whether testing is appropriate, and explains in plain language what the test can and cannot reveal, including the chance of uncertain findings.
- 2
Sample collection
A simple sample, usually blood or saliva, is collected. No anesthesia or preparation is needed and it takes only a few minutes.
- 3
Laboratory analysis
Our on-site genetic diagnosis laboratory analyzes the sample for changes in the relevant genes. Turnaround depends on the specific test and is confirmed by your coordinator.
- 4
Results & post-test counseling
A genetics specialist explains your results, what they mean for you and your family, and any recommended medical follow-up, monitoring, or onward referral. Results can be discussed remotely if you have returned home.
Benefits
- Can confirm or clarify a suspected inherited diagnosis, sometimes ending a long diagnostic search
- Helps you and your doctors plan appropriate monitoring, treatment, or preventive care
- Clarifies risk for you and can inform testing decisions for relatives
- Supports informed family-planning and reproductive choices
- Every result is interpreted by specialists and explained through genetic counseling
Risks & considerations
- Results can be uncertain, and some tests reveal variants of unknown significance that cannot yet be fully interpreted
- A normal or negative result does not rule out every possible genetic cause or all future risk
- Testing may uncover incidental findings unrelated to the original reason for the test
- Results can have emotional, family, and privacy or insurance implications that counseling helps you weigh
- Genetic tests target defined genes or regions and cannot detect every possible change
Conditions this treats
Where it is performed
This procedure is delivered by our Medical Genetics.
Learn more before you decide
Provider-reviewed guides on the related conditions, symptoms and tests in our Health Library.
Genetic Testing & Diagnosis — frequently asked questions
Depending on the test, it can confirm or rule out a suspected inherited condition, help explain undiagnosed symptoms, or show whether you carry a specific variant seen in your family. It cannot detect every possible genetic change, and some results are uncertain, which is why interpretation with a specialist matters.
Not necessarily. A negative or normal result is reassuring for the specific genes tested, but it does not rule out every genetic cause or all future risk. Your counselor will explain exactly what your particular result does and does not cover.
No. Most genetic tests use a simple blood draw or a saliva sample. There is no anesthesia, no operation, and no recovery time.
A clinical genetics specialist explains your results through genetic counseling. Because genetic findings can also be relevant to relatives, the counselor helps you understand any implications for your family and how you might choose to share them.
Your coordinator arranges the referral and pre-test genetic counseling before you travel and provides an itemized cost estimate in advance. The sample is collected during your visit, and your results and post-test counseling can be discussed remotely after you return home.
We provide a transparent, itemized estimate after reviewing your case and do not quote fixed prices online because each plan is individual. Turnaround varies by the specific test, and your coordinator confirms the expected timing when your plan is agreed.
Related treatments
Considering genetic testing & diagnosis?
Share your reports for a medical second opinion and a transparent, itemized cost estimate — usually within 48 hours.