国立研究開発法人 国立成育医療研究センター National Center for Child Health and Development

  • Font--more Large--

Tel: +81-3-3416-0181 / Reservation(Hospital): 03-5494-7300
〈Monday~Friday(except national holiday)9A.M.〜17P.M.〉

  • Access
  • Contact Us
  • MENU

患者・ご家族の方へ Patient & Family

患者・ご家族の方へ Patient & Family

Division of Medical Genetics

In the field of pediatrics there are over 1,000 rare diseases, many of which have a genetic etiology. The delineation of a precise genetic cause is not always straightforward, but our division aims to provide appropriate
medical management to children with genetic diseases and congenital malformations, as well as precise genetic counseling for their families.

Medical services

Our team consists of board-certified/board-eligible geneticists and genetic nurses. We work closely with obstetricians specializing in prenatal diagnosis. To make a precise clinical diagnosis, we always take a detailed medical history and perform a thorough physical examination. In collaboration with other pediatric specialists in
our hospital, we apply our cutting-edge genetic testing facilities to pinpoint genetic causes.

Diagnosis and treatment policy

Since genetic diseases tend to affect multiple systems in the body, we collaborate with various pediatricians and surgeons at the NCCHD hospital.

Preventive management

We treat children with genetic disorders, including chromosome defects, endocrine disorders, and skeletal problems, and we are devoted to the preventive management of children with multiple birth defects. We believe
that the delineation of the underlying cause often helps to detect disease-specific problems at an earlier stage.

Genetic counseling

We provide genetic counseling services to patients and their families at risk of genetic disease. Genetic counseling is defined by the National Society of Genetic Counselors as the process of educating patients and their families about the medical, psychological and familial implications of genetic diseases. Delineating the genetic cause allows us to predict the genetic risk of a family member having the same condition as the patient.

Target diseases

Pediatric genetic diseases, chromosomal abnormalities, multiple congenital anomalies, fetal structural or chromosomal abnormalities

Advanced/specialized treatments

We provide comprehensive diagnostic genetic testing services and offer state-of-the-art technology, including chromosomal microarray analysis (CMA) and next-generation sequencing (NGS) on a research basis.