Genomic Diagnostic Laboratory (GDL) at the Children’s Hospital of Philadelphia (CHOP)
To provide genetic and genomic diagnostic testing for congenital and/or developmental disorders using genetic material extracted from blood, fibroblast tissue, saliva, products of conception, buccal swabs and other tissues as needed. *DGDGeneticCounselor@email.chop.edu*
- Study design
- Patients' cohort
Rajagopalan R, Murrell JR, Luo M, Conlin LK. A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data. Genome Med. 2020 Jan 30;12(1):14. doi: 10.1186/s13073-020-0712-0.
- Sources of Recruitment
Number of participants
- Number of participants
- Number of participants with biosamples
Availability of data and biosamples
No coverage data about the variables classifications are available.