[작성자:] Ashley Zhu
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What is ‘Proband’, ‘Duo’, and ‘Trio’?
Testing only the patient is called proband, testing the patient and one of the parents together is called duo, and testing both the patient and the parents is called trio. Note that you can only test the patient and the parents; you cannot test other family members, such as siblings or grandparents, in duo or…
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What is Unique ID?
It is a number that can be specific to that patient.For example: Hospital case number, hospital registration number, patient identification number, name spelling.
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What is HPO?
HPO stands for Human Phenotype Ontology, which is a standardised terminology for various clinical symptoms. The more specific you are in describing your HPO symptoms, the more accurate your test results will be.
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Can I order even if the patient is still not showing any symptoms yet?
Our tests correlate the genetic variants found in patients with their symptoms.The more specific the patient’s symptoms are, the more accurate the results will be, and if there are no symptoms, the test cannot be performed.
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What else do I need to prepare besides the sample when ordering a genetic test?
The consent form needs to be sent along with the sample.You can learn more about genetic testing consent forms on the Genetic Testing Consent Forms FAQ page.
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What is Consent Form?
This is a required document for patients to submit in order to undergo genetic testing. You can download from the portal.My Tests -> 3B ID Consent Form
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Where can I find an estimated result date?
You can check the estimated result date on the portal.My Tests-> 3B ID Details -> Estimated Result Date
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How do I prepare sample quantities?
For blood samples, we require a minimum of 3 cc for WGS and a minimum of 1 cc for WES and VST.Buccal and DBS card samples must use the 3billion kit.For DNA samples, WGS requires a minimum of 5ug and WES and VST requires a minimum of 2ug.For more information, please refer to our sample…
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How long does it take to deliver the sample?
Please note that delivery times may vary from country to country, and due to various issues that may arise during shipping, we are unable to provide an exact delivery time.
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Diagnosis of Rare Diseases with Exomes (Cases in Latin America)
Speakers will present cases from Latin America that show how a patient’s diagnostic odyssey was solved through whole exome sequencing (WES). The advantages of WES tests compared to other tests will be discussed. Attendees will be able to learn about the latest in genetic diagnosis for rare genetic disease patients and be able to ask questions…