Комитета по контролю качества ESHGQ [53], лабораторное заключение должно содержать информацию, которая позволила бы врачам-генетикам осуществить клиническую интерпретацию результата исследования с использованием литературных ресурсов (например, описан ли обнаруженный миссенс-вариант в базах данных, к какому классу относится, известно ли его клиническое значение; в случае необходимости можно рекомендовать проведение генеалогического/семейного исследования).
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