Consent Form

For Genetic Testing E.420-23A

PATIENT CONSENT FORM

For the purposes of this consent, the terms “I,” “me/my,” and “you/your” shall refer to me or to my child, including my unborn child, if it is my child who is the individual for whom the healthcare provider has ordered the test.

A. PURPOSE OF THE TEST

The purpose of this test is (a) to determine whether I carry a genetic variant responsible for a particular genetic disorder; (b) to assess the probability of the onset or hereditary transmission of a genetic disorder in the future; or (c) to assess whether I am a carrier of a genetic variant that may lead to a disease. The test is intended for both individuals and couples. Therefore, the test may assist in making decisions related to future family planning. If I am already affected, the test may help in confirming the diagnosis, in assessing the progression of my disease, and possibly in selecting the most appropriate treatment for me.

Β. WHAT KIND OF RESULTS CAN I EXPECT FROM THE TEST

1. Positive (a pathogenic/likely pathogenic variant was found): This means that a change has been found in your DNA that is very likely to be the cause of your traits/symptoms. This result may be used as a basis for testing other family members, in order to determine whether they too are at risk of having the disease or of giving birth to a child with the disease.
2. Negative (no pathogenic/likely pathogenic variant was found): This does not mean that you do not have a genetic condition. It is still possible that a genetic variant exists that was not detected by the test performed. The healthcare provider or genetic counselor may recommend further testing, either now or in the future.
3. Variant of uncertain significance (VUS): This means that a change in a gene has been found. However, we are not certain whether this variant is the cause of your symptoms/traits. Further information is required. Testing of other family members may be recommended to help us understand the meaning of the test results. Also, the classification of the variant may change based on new published data.
4. Unexpected results: In rare cases, this test may also reveal a significant genetic variant that is not directly related to the reason this test was ordered. For example, this test may find that you are at increased risk for another genetic condition that you were not aware of. We may disclose this information to the healthcare provider who ordered the test if there are additional, complementary findings that affect the patient’s healthcare.
5. The interpretation of the results is based on information currently available in the literature and in scientific databases. New information that becomes available in the future may functionally alter the interpretation of the test. The laboratory undertakes the re-evaluation of the results it issues at any given time. Healthcare providers are encouraged to contact the laboratory at any time to learn whether the classification of a particular variant has changed over time.

C. ADDITIONAL INFORMATION

For certain genetic tests, samples from biological parents and/or other biological relatives, together with the patient’s sample, may help in the interpretation of the test results. In such cases, it is recommended that the samples from relatives be accompanied by clinical information for the patient and for each relative submitting a sample.
I understand that MICRODIAGNOSTICS S.A. will use the relevant data when required for the interpretation of my test results, and that the report of my test may include clinical and genetic information regarding a relative, when this relates to the interpretation of my test results. I further understand that relatives will not receive an independent data analysis or a separate report.

D. LIMITATIONS OF GENETIC TESTING

1. In certain cases, the test may fail to detect a genetic variant even though one may exist. This may be due to limitations in current medical knowledge or in the technology of the specific test.
2. The accurate interpretation of the test results may require knowledge of the actual biological relationships within a family. I understand that if I fail to accurately declare the biological relationships within my family, this will lead to an erroneous interpretation of the test results, in incorrect diagnoses, and/or in unclear diagnoses. If the genetic test reveals that the actual biological relationships within a family are not as I have declared — including non-paternity (the stated father not being the biological father) and consanguinity (parents being blood relatives) — I consent to my reporting these findings within the framework of the healthcare provider who ordered the test.
3. This test is highly accurate; however, there is a small probability of erroneous results arising for technical and biological reasons. Even when all the required quality measures are taken, errors may rarely occur, for reasons including: the absence of accurate clinical/medical information, rare technical errors, or other rare events.
4. I understand that this test may not detect all the long-term medical risks that may be faced. The result of this test does not guarantee my health and additional diagnostic tests may be required.
5. I agree to provide an additional sample if the original sample is not sufficient.

Ε. CONFIDENTIALITY AND GENETIC COUNSELING

It is recommended that I receive genetic counseling before and after the performance of this genetic test. Further testing and additional consultations with a healthcare provider may be required.
In order to maintain confidentiality, the test results will be communicated only to the referring healthcare provider, to me, to other healthcare providers involved in my care, in my treatment, and to others with my consent, or as permitted or required by law. The state law requiring the non-unauthorized disclosure of this information applies.
For the purpose of processing the personal data conducted by MICRODIAGNOSTICS S.A., the patient is the party requesting the effective, efficient, and proper handling and movement of the diagnostic sample and of its test results. All personal-character data are processed by the authorized, duly trained personnel, with care for the protection of the data through the application of a series of security measures. The data collected are not subjected to further processing beyond the purpose for which they are collected.

CONSENT

Α. SAMPLE STORAGE

I acknowledge and agree to permit the storage of my biological sample for future use for up to 1 year.
I DO NOT agree to the storage of my biological sample for future use for up to 1 year.
After the completion of the test, the personally identifying information may be removed from my sample, and it may be used for the development and improvement of tests, internal validation, quality assurance, and educational purposes. MICRODIAGNOSTICS S.A. will not return DNA samples to you or to the referring healthcare providers, unless a specific prior arrangement has been made.

Β. PARTICIPATION IN DATABASES

Anonymous health history and genetic information may help healthcare providers and scientists understand how genes affect human health. The shared use of this anonymous information helps healthcare providers to provide better care to patients and helps researchers to investigate new discoveries. MICRODIAGNOSTICS S.A. shares this type of information with healthcare providers, scientists, and healthcare databases. MICRODIAGNOSTICS S.A. will not share personal information, and my full name will be replaced with a unique code that does not derive from any personal information.

I (parent/guardian in the case of minors) authorize MICRODIAGNOSTICS S.A. to perform the genetic test ordered by the clinical physician.

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