Fragile X syndrome
Conditions
Interventions
Gold Standard:the AmplideX® FMR1 PCR Kit (TP-PCR) developed by Asuragen, Inc. was used as reference method 1, and the Southern Blot method was used as reference method 2
Index test:Human FMR1 Gene Detection Kit (Fluorescent PCR-Capillary Electrophoresis Method) developed by Biofast Biotechnology Co., Ltd
Sponsors
Children's Hospital, Zhejiang University School of Medicine
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patient samples meeting any of the following requirements: 1. Patients with intellectual disability, developmental delay, whose behavioral signs (long face, large ears/twisted ears, attention deficit hyperactivity disorder autistic-like behavior) suspected to be Fragile X syndrome or other unexplained intellectual disability signs. 2. Patients with menstrual disorders, premature ovarian failure, ovarian hypoplasia, unexplained primary or secondary infertility, and those who are expected to undergo In Vitro Fertilization (IVF) that requires evaluation of ovarian function; and 3. Family history of the above conditions. 4. Women with a history of spontaneous abortion or abortion due to fetal growth retardation. 5. Other people undergoing genetic counseling. The following information should be included in the sample: original sample number, gender, age, and clinical diagnosis.
Exclusion criteria
Exclusion criteria: 1. Samples with incomplete basic clinical information; 2. Samples with aggregates or clots; 3. Samples with severe hemolysis; 4. Duplicate samples; 5. Samples that, in the opinion of the investigator, do not meet the requirements for testing.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Negative/positive compliance of assay with reference method 1;Sensitivity/specificity of the assay to reference method 2; | — |
Countries
China
Contacts
Public ContactZhiwei Zhu
Children's Hospital, Zhejiang University School of Medicine
Outcome results
None listed