A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research

A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research - A study on the usefulness of additional analyses in cases suspected to be hereditary diseases that have not been reached a definite diagnosis by a contract genetic testing or a genetic test conducted as a research

Status

Recruiting

Phases

Unknown

Study type

Interventional

Source

JPRN

Registry ID

JPRN-UMIN000045867

Enrollment

100

Registered

2021-10-26

Start date

2021-10-22

Completion date

Unknown

Last updated

2026-06-29

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

hereditary diseases

Interventions

additional genetic testing for final diagnosis

Eligibility

Sex/Gender

All

Inclusion criteria

Inclusion criteria: Patients(who have recieved routine genetic testing) 1)who were not able to obtained difinite diagnosis by routine genetic testing 2)20 years old or above in principle 3)after receiving enough explanation of the research, they fully understand this and provide IC. Relatives of the above patients 1)First or second relatives of the above patients 2)20 years old or above in principle 3)after receiving enough explanation of the research, they fully understand this and provide IC.

Exclusion criteria

Exclusion criteria: 1)Those who are judged as not suitable for research subjects by PI

Design outcomes

Primary

Measure	Time frame
Frequency of cases with a definite diagnosis by additional testing among those who did not receive a definite diagnosis by a routine genetic testing	—

Countries

Japan

Contacts

Public ContactMasami Arai

Juntendo University Graduate School of Medicne Department of Clical Genetics

ms-arai@juntendo.ac.jp03-3813-3111

Outcome results

None listed

Source: JPRN (via WHO ICTRP) · Data processed: Jul 3, 2026