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Next-Generation sequencing detects mutations in patients with congenital structural abnormalities

Next-Generation sequencing detects mutations in patients with congenital structural abnormalities

Status
Recruiting
Phases
Early Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2100047277
Enrollment
Unknown
Registered
2021-06-11
Start date
2021-07-01
Completion date
Unknown
Last updated
2022-02-01

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

Conditions

Kidney dysplasia, ureteral disease, hypospadias, urinary system with other malformations, sexual dysplasia, gonad dysplasia or defects

Interventions

Case series:None

Sponsors

Chinese PLA General Hospital
Lead Sponsor

Eligibility

Sex/Gender
All

Inclusion criteria

Inclusion criteria: 1. After the verification by the Foundation, the clinical diagnosis of the rescued children conforms to the diseases of the project, and they are confirmed as the aid objects; 2. Patients who have voluntarily signed the Informed Consent Form for genetic testing and counseling and their families.

Exclusion criteria

Exclusion criteria: 1. The sample is mixed with other individual cells or tissues (sample contamination); 2. The client has recently (within half a year) received allogeneic blood transfusion, organ transplantation, stem cell therapy, etc.; 3. True and accurate genetic relationship information not provided by the subject or his/her guardian; 4. The genetic etiology has been confirmed.

Design outcomes

Primary

MeasureTime frame
Detection of pathogenic site;

Countries

China

Contacts

Public ContactZhang Chunyan

Chinese PLA General Hospital

rebrcca@126.com+86 18810882866

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026