講演情報
[O19-5]国立成育医療研究センター衛生検査センターにおける先天性疾患を対象とした遺伝学的検査の推進に向けた取り組み
○黒木 陽子1,2, 松原 圭子1,3, 植田 亜季1,3, 清河 信敬1,4, 深見 真紀3 (1.国立成育医療研究センター 衛生検査センター, 2.国立成育医療研究センター ゲノム医療研究部, 3.国立成育医療研究センター 分子内分泌研究部, 4.国立成育医療研究センター 小児血液・腫瘍研究部)
The latest innovative technologies and the prevalence of genome information provide a great benefit to the field of clinical medicine in terms of the conducting for proper diagnosis and suitable treatment. Currently, several monogenic diseases can be diagnosed quickly by the examination of the patients’ genome. However, most of the intractable and rare diseases have not yet been subjected to the genetic examination, because information for the clinical and genetic testing are not well known in medical practice To provide a suitable genetic testing for patients suffering from intractable and rare diseases, we established a section of genetic testing for congenital disorders at clinical laboratory center in National Center for Child Health and Development (NCCHD). The clinical laboratory center at NCCHD has been established for the purpose of utilizing scientific evidence identified in our research center to the novel diagnostic procedures in clinical medicine. When the clinical laboratory center was established in 2019, there was one section of diagnostic services for childhood leukemia and cancer, and then, recently a section of genetic testing for congenital disorders was started. We conduct genetic tests for 12 disorders such as imprinting disorders, endocrine disorders, and sex chromosome abnormality by Multiplex ligation-dependent probe amplification (MLPA) or Methylation-specific MLPA. In this meeting, we will report the status of the clinical testing and activities of the section of genetic testing for congenital disorders at NCCHD.