Terms and conditions

Terms and Conditions for a private person

Terms and Conditions for a private person Valid as of 27 February 2020

Please read these Testing Terms and Conditions carefully before submitting your order for testing services from Genorama LLC (‘Genorama’). By submitting your order, you provide your acceptance of these Terms and Conditions. If you do not agree to all of these Terms and Conditions, you may not use this website or testing services.

Genorama may revise these Terms and Conditions at any time and for any reason. Valid Terms and Conditions are at all time available on the website. Please read the Terms and Conditions each time before submitting an order. By continuing use of the website and Genorama services after any changes you will be accepting such changes.

These Terms and Conditions shall be governed by the laws of Estonia. The courts of Estonia will have exclusive jurisdiction to adjudicate any dispute arising under or in connection with these Terms and Conditions and testing performed by Genorama.

In the context of these Terms and Conditions a ‘customer’ is an ordering person submitting an order to Genorama.

Information of the sample material 1. All requirements and instructions for samples, including information about tests for which Genorama will mail sample collection kits, are published on Genorama’s website. 2. The test is performed if: 2.1. the submission/consent form has been filled in as required; and 2.2. quality requirements have been followed in the process of collecting and storing the sample material; and 2.3. quality, quantity and concentration of the sample material is in accordance with the requirements of Genorama; and 2.4. individual’s name or sample code on the submission/consent form is in full accordance with the individual’s name or sample code marked on the sample container. 3. Genorama shall not be responsible for the loss of the sample sent for testing or for being sent to a wrong address or for breaking the container during transportation. 4. Genorama is entitled to ask for additional sample material if the quantity or quality needed for testing is not in compliance with the requirements. Genorama shall send one replacement kit free of charge. Genorama shall charge 10% of the price of the Service for each subsequent replacement kit. The shipment cost of the replacement kits shall be paid by Genorama. 5. Genorama will inform the customer of the received sample by e-mail if the respective e-mail address has been added on the submission form. 6. The remaining sample material is stored in case the customer would like to repeat the testing in the future. In case there is not enough sample material for storing and the customer wishes later to perform a repeated analysis of the new sample material, Genorama shall not be responsible for the differences in the results received by carrying out the new analysis. Sending back the remaining sample material to the customer is performed in accordance with the established price list. 7. Genorama may use remaining de-identified sample material for quality improvements and/or scientific purposes, unless otherwise instructed in writing on the consent form by the customer.

Performance of the test 1. The customer shall give the informed approval for testing by signing in consent form. On behalf of a child under 18 years the written consent shall be signed by parent or legal guardian. Testing is for informational purposes only, it is not medical advice, and it is not substitute for professional medical advice, genetic counseling, diagnosis or treatment. 2. Testing performed by Genorama is in accordance with the good practice of laboratory and international quality requirements. The accuracy rate of genetic testing is 99% or higher. 3. Turnaround time of the test depends on the testing method used. All information about turnaround time is published under ordering information of each test on Genorama’s website. Genorama will do everything to submit the results of the test at the first possibility, but Genorama cannot take responsibility for the delay of the results due to unforeseen time-consuming cases.

1. Limitations of the next generation sequencing (NGS) NGS is limited in detecting the following types of mutations (this list might not be exhaustive): intronic mutations (except whole genome sequencing – WGS), large rearrangements, mitochondrial genome mutations (except when specifically targeted), epigenetic factors, mosaic mutations, uniparental disomy, mutations in repetitive or GC rich regions, mutations in genes with corresponding pseudogenes or other highly homologous sequences. NGS based analysis of CNVs may have lower sensitivity/specificity than a direct quantification method. Current method detects most larger deletions and duplications; however, sensitivity for small CNVs may vary from gene-to-gene based on exon size, depth of coverage, and characteristics of the region. The absence of reported CNVs therefore does not guarantee the absence of CNVs.

In case of microbiome analysis, NGS is limited in distinguishing between live and dead microbes using bacterial 16S rRNA sequencing.

Whole exome sequencing (WES) does not target 100% of the genes in the human genome; approximately 97% of exons are targeted. However, ~10% of exons may not be covered at sufficient levels to reliably call heterozygous variants. WGS does not analyze all genes or detect all mutations in the human genome due to technical reasons. Each individual may have slightly different coverage yield distributions across the exome or the genome. Clinical sensitivities and specificities of any individual exome or genome are not calculated. Rare variants at the probe target site may affect analytical sensitivity. 2. Limitations of Arrayed Primer Extension (APEX) and Sanger sequencing APEX and Sanger sequencing are limited in detecting the following types of mutations (this list might not be exhaustive): large rearrangements, copy number variation mutations (large deletions/duplications), epigenetic factors, mosaic mutations, uniparental disomy, mutations in simple repeats (short variable number tandem repeats), homopolymers (stretches of the same nucleotide) and GC rich regions. 3. Limitations of Multiplex Ligation-dependent Probe Amplification (MLPA) MLPA cannot be used on single cells (at least 3000 cells are required) and on samples amplified by WGA methods (Whole Genome Amplification). MLPA cannot detect balanced translocations and distinguish female triploid from diploid cells. This list might not be exhaustive. 4. Limitations of Restriction Fragment Length Polymorphism (RFLP) RFLP can only be used for detection of mutations affecting specific restriction sites in DNA sequence recognizable by restriction enzymes. 5. Limitations of Fragment Analysis Fragment Analysis can only be used for detection of changes in the length of a specific DNA fragment to indicate the presence or absence of a genetic marker.

1. Genetic testing may not identify the cause of disease despite the detected variations. If genetic testing identifies the genetic cause of a disorder, it is possible that this knowledge may or may not help with the prognosis and management of the disease. 2. Negative result (no mutation detected) does not exclude the presence of a genetic disease or predisposition to a genetic disease. 3. While assessing the disease risk, genetic background is one of the factors for developing the disease; environmental and life-style effects also play an important role. The total risk for developing the disease cannot be assessed based on the results of genetic testing. Increased risk for developing the disease does not necessarily mean getting the disease; whereas the disease may nevertheless present in low risk individuals if environmental factors or other currently unknown risk factors increase the probability of getting the disease. Risk evaluation takes into account the risk in general population, which does not mean one-to-one risk for every single member of the population. 4. In the interpretation of the genetic test, it should be taken into consideration that current knowledge on the genetics of the disease or pathogenic disorder, and on the interactions of various genes, may be incomplete. The current interpretation of the genetic test may be subjected to change in the future due to the publication of new scientific investigations. 5. The result received based on the genetic test may not be complete, because many ethnic groups are not involved in scientific research. The results of genetic tests issued by Genorama are based on published scientific research and may not be applicable to all ethnic groups. 6. In case of WES and WGS, incidental findings are reported according to American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental findings or secondary findings in clinical exome and genome sequencing (unless the patient opts-out of receiving these results on the consent form). Any other incidental findings not related to ACMG recommendations or individual’s medical condition will be discussed with the customer before reporting. 7. Genorama is not responsible for legal, material, social, psychological, or moral consequences that may appear in association to the results of genetic testing.

Interpretation of the results of microbiome analysis The purpose of microbiome analysis is to describe overall composition of gut bacteria, analyse its influence to individual’s health, and detect pathogenic bacteria. 1. It should be taken into consideration that microbiome analysis is performed from stool sample. Sample material of microbiome test includes live microbes that may reproduce in time period between sampling and analysing. Therefore, the percentage of microbes in sample material may change during long-term storage. Due to the above-mentioned reasons the results of analysis may not reflect the actual composition of gut bacteria. 2. The method used in microbiome analysis does not allow distinguishing between live and dead microbes, and therefore the composition of microbes detected in analysis may not completely coincide with the actual composition of bacteria affecting human organism. 3. Reported composition of bacteria may not be complete, the absence of bacterium in the results does not exclude the actual presence of the bacterium in a gut. 4. Microbiome analysis may not enable detection of the cause of disease or health problem despite detected findings. Even if microbiome analysis enables detecting the cause of disease or health problem, the information may not aid in prognosis or treatment of disease. 5. Every individual may be adjusted to living with one’s microbiome, therefore the microbiome composition different from reference group may not certainly cause obesity, diseases or health problems. Nevertheless, a microbiome similar to reference group may not exclude occurring health problems. 6. Microbiome composition is one of the factors in weight development, the causes of diseases and health problems; environment and lifestyle influences play also an important role. 7. Nutrition is one of the factors affecting microbiome composition; drug (especially antibiotics) consumption, diseases, age, stress, pregnancy, lifestyle and environmental factors contribute also significantly. Dietary recommendations included in results report may not be complete and may not affect microbiome composition in foreseen and desirable direction. 8. In the interpretation of microbiome analysis, it should be taken into consideration that current knowledge on the impact of bacteria on their human host, may be incomplete. The current interpretation of microbiome analysis may be subjected to change in the future due to the publication of new scientific investigations. 9. Genorama is not responsible for legal, material, social, psychological, or moral consequences that may appear in association to the results of microbiome analysis.

Issue of the test results 1. The test results will be issued only to the customer of the test. Copy of the results will be issued only to the person(s) whose name(s) and data have been marked on the submission/consent form. Genorama shall not disclose the personal data of the individual or the results of the test to the third parties. 2. Raw data of test results in case of WES, WGS, and NGS of gene panels will be stored for 3 months after the test results have been issued. Any inquiries about the test results requiring additional data analysis are accepted up to 3 months after the test results have been issued. 3. Genorama may use remaining de-identified test results for quality improvements and/or scientific purposes, unless otherwise instructed in writing on the consent form by the customer. 4. The customer has a right to renounce the knowledge of the test results by informing Genorama in writing before the results have been issued, whereas it does not give the customer the right to reclaim the sum paid for the test.

Price, payment and cancellation 1. Genorama reserves the right to change prices at any time. Irrespective of any change of prices the customer will be charged the price, which was specified for the service when the order was placed. 2. The customer of the test shall pay the invoice for the performance of the test within 10 calendar days as from the date marked on the invoice unless agreed differently. In case of delay of the payment, Genorama is entitled to add an overdue charge of 0.1% of the amount per each calendar day to the invoice. 3. Order may be cancelled by customer until Genorama has not begun to analyse the sample. Order is not eligible to be cancelled if the analysis is in the process. 4. Orders cancelled by customer after the collection kit has been delivered to the customer, 75% of the test price will be refunded.

Warranties and disclaimers 1. Genorama, its divisions, subsidiaries, parent companies or their employees shall not be liable for any direct, consequential, indirect or any other damages arising out of performed tests or use of tests results. This includes liability for personal injury or death. 2. The customer hereby agrees to indemnify Genorama, its divisions, subsidiaries, parent companies or their employees in respect to all loss or damage suffered in connection to use of this website or Genorama testing services and in respect of all claims or legal proceeding brought by any third party which arise in connection to such services. 3. In no case shall the liability of Genorama, its divisions, subsidiaries, parent companies or their employees exceed the amount paid by the customer for the particular testing. Any claim against Genorama, its divisions, subsidiaries, parent companies or their employees shall be submitted within 6 months as from issue of the test results, otherwise the claim is deemed to be expired.

Terms and conditions for a legal entity

Terms and conditions for a legal entity Valid as of 27 February 2020

In the context of these Terms and Conditions a ‘customer’ is an ordering person submitting an order to Genorama.

Information of the sample material 1. All requirements and instructions for samples, including information about tests for which Genorama will mail sample collection kits, are published on Genorama’s website. 2. The test is performed if: 2.1. the submission form has been filled in as required; and 2.2. quality requirements have been followed in the process of collecting and storing the sample material; and 2.3. quality, quantity and concentration of the sample material is in accordance with the requirements of Genorama; and 2.4. name(s) or sample code(s) on the submission form is/are in full accordance with the name(s) or sample code(s) marked on the sample container(s). 3. Genorama shall not be responsible for the loss of the sample sent for testing or for being sent to a wrong address or for breaking the container during transportation. 4. Genorama is entitled to ask for additional sample material if the quantity or quality needed for testing is not in compliance with the requirements. Genorama shall send one replacement kit free of charge. Genorama shall charge 10% of the price of the Service for each subsequent replacement kit. The shipment cost of the replacement kits shall be paid by Genorama. 5. Genorama will inform the customer of the received sample by e-mail if the respective e-mail address has been added on the submission form. 6. The remaining sample material is stored in case the customer would like to repeat the testing in the future. In case there is not enough sample material for storing and the customer wishes later to perform a repeated analysis of the new sample material, Genorama shall not be responsible for the differences in the results received by carrying out the new analysis. Sending back the remaining sample material to the customer is performed in accordance with the established price list. 7. Genorama may use remaining de-identified sample material for quality improvements and/or scientific purposes, unless otherwise instructed in writing on the consent form by the customer.

Performance of the test 1. The customer shall be responsible for getting the informed approval from the tested person whose sample is sent for testing. The customer of the genetic test shall be responsible for providing a genetic consultation to the tested person both before and after the test. Testing is for informational purposes only, it is not medical advice, and it is not substitute for professional medical advice, genetic counseling, diagnosis or treatment. 2. Testing performed by Genorama is in accordance with the good practice of laboratory and international quality requirements. The accuracy rate of genetic testing is 99% or higher. 3. Turnaround time of the test depends on the testing method used. All information about turnaround time is published under ordering information of each test on Genorama’s website. Genorama will do everything to submit the results of the test at the first possibility, but Genorama cannot take responsibility for the delay of the results due to unforeseen time-consuming cases.

Limitations of the testing The development of the test and performance of the analyses is based on our current knowledge of the molecular biological data and it may change over time as more information becomes available. Due to the variability of biological material and the molecular biological methods used, in rare cases the result of the test may appear to be invalid. 1. Limitations of the next generation sequencing (NGS) NGS is limited in detecting the following types of mutations (this list might not be exhaustive): intronic mutations (except whole genome sequencing – WGS), large rearrangements, copy number variation mutations (large deletions/duplications), mitochondrial genome mutations (except WGS), epigenetic factors, mosaic mutations, uniparental disomy, mutations in repetitive or GC rich regions, mutations in genes with corresponding pseudogenes or other highly homologous sequences. In case of microbiome analysis, NGS is limited in distinguishing between live and dead microbes using bacterial 16S rRNA sequencing. Whole exome sequencing (WES) does not target 100% of the genes in the human genome; approximately 97% of exons are targeted. However, ~10% of exons may not be covered at sufficient levels to reliably call heterozygous variants. WGS does not analyze all genes or detect all mutations in the human genome due to technical reasons. Each individual may have slightly different coverage yield distributions across the exome or the genome. Clinical sensitivities and specificities of any individual exome or genome are not calculated. Rare variants at the probe target site may affect analytical sensitivity. 2. Limitations of Arrayed Primer Extension (APEX) and Sanger sequencing APEX and Sanger sequencing are limited in detecting the following types of mutations (this list might not be exhaustive): large rearrangements, copy number variation mutations (large deletions/duplications), epigenetic factors, mosaic mutations, uniparental disomy, mutations in simple repeats (short variable number tandem repeats), homopolymers (stretches of the same nucleotide) and GC rich regions. 3. Limitations of Multiplex Ligation-dependent Probe Amplification (MLPA) MLPA cannot be used on single cells (at least 3000 cells are required) and on samples amplified by WGA methods (Whole Genome Amplification). MLPA cannot detect balanced translocations and distinguish female triploid from diploid cells. This list might not be exhaustive. 4. Limitations of Restriction Fragment Length Polymorphism (RFLP) RFLP can only be used for detection of mutations affecting specific restriction sites in DNA sequence recognizable by restriction enzymes. 5. Limitations of Fragment Analysis Fragment Analysis can only be used for detection of changes in the length of a specific DNA fragment to indicate the presence or absence of a genetic marker.

Interpretation of the results of genetic testing The purpose of genetic testing is to identify disease-causing genetic mutations, evaluate the presence of predisposition to a genetic disease, assess the risk for developing a genetic disease, and determine biological relationship. 1. Genetic testing may not identify the cause of disease despite the detected variations. If genetic testing identifies the genetic cause of a disorder, it is possible that this knowledge may or may not help with the prognosis and management of the disease. 2. Negative result (no mutation detected) does not exclude the presence of a genetic disease or predisposition to a genetic disease. 3. While assessing the disease risk, genetic background is one of the factors for developing the disease; environmental and life-style effects also play an important role. The total risk for developing the disease cannot be assessed based on the results of genetic testing. Increased risk for developing the disease does not necessarily mean getting the disease; whereas the disease may nevertheless present in low risk individuals if environmental factors or other currently unknown risk factors increase the probability of getting the disease. Risk evaluation takes into account the risk in general population, which does not mean one-to-one risk for every single member of the population. 4. In the interpretation of the genetic test, it should be taken into consideration that current knowledge on the genetics of the disease or pathogenic disorder, and on the interactions of various genes, may be incomplete. The current interpretation of the genetic test may be subjected to change in the future due to the publication of new scientific investigations. 5. The result received based on the genetic test may not be complete, because many ethnic groups are not involved in scientific research. The results of genetic tests issued by Genorama are based on published scientific research and may not be applicable to all ethnic groups. 6. In case of WES and WGS, incidental findings are reported according to American College of Medical Genetics and Genomics (ACMG) recommendations for reporting of incidental findings or secondary findings in clinical exome and genome sequencing. Any other incidental findings not related to ACMG recommendations or tested person’s medical condition will be discussed with the customer before reporting. 7. Genorama is not responsible for legal, material, social, psychological, or moral consequences that may appear in association to the results of genetic testing.

Issue of the test results 1. The test results will be issued only to the customer of the test. Copy of the results will be issued only to the person(s) whose name(s) and data have been marked on the submission form. Genorama shall not disclose the personal data of the tested person or the results of the test to the third parties. 2. Raw data of test results in case of WES, WGS, and NGS of gene panels will be stored for 3 months after the test results have been issued. Any inquiries about the test results requiring additional data analysis are accepted up to 3 months after the test results have been issued. 3. Genorama may use remaining de-identified test results for quality improvements and/or scientific purposes, unless otherwise instructed in writing on the consent form by the customer. 4. The customer has a right to renounce the knowledge of the test results by informing Genorama in writing before the results have been issued, whereas it does not give the customer the right to reclaim the sum paid for the test.