CATC Biorepository

The Child and Adolescent Thyroid Consortium (CATC) has been designed to create a global community of pediatric investigators dedicated to improving the health of children with thyroid-related conditions.

The CATC Biorepository has been designed to accelerate translational research and precision medicine through collaboration across institutes around the world. By combining efforts, we make meaningful contributions to the field of pediatric thyroid disease.

Biospecimen Types

Flash-Frozen Tissue
Flash-Frozen Tissue
Pathology Slides
Pathology Slides

Biospecimen Collection

Retrospective and prospective specimens from member institutions will be sent to the CATC Operations Center at the Children’s Hospital of Philadelphia (CHOP) for storage in the biorepository. Depending on your institutional guidelines, retrospective specimen collection may or may not require patient consent/assent. Prospective specimen collection will be obtained only after consent/assent.

Biospecimen Processing

Formalin-fixed paraffin-embedded (FFPE) tissue, flash-frozen tissue, blood, and saliva are used for subsequent cellular, biochemical, and/or genetic analysis to identify driver mutations and differences in target gene expression.

For more information on biospecimen processing, email

Biospecimen Testing

Below are some types of molecular testing that will be performed. As new technologies continue to become available, the breadth of molecular testing will continue to expand.

HTG Molecular Diagnostics

  • Whole Transcriptome Panel (WTP) measures the expression of 2,083 human miRNA transcripts using next-generation sequencing.
  • Oncology Biomarker Panel (OBP) profiles simultaneous quantitative detection of 2,549 genes associated with tumor biology using next-generation sequencing.
  • Transcriptome Panel generates comprehensive mRNA profile (19,398 targets) using next-generation sequencing.

RNA Sequencing

  • Paired-end RNA Sequencing detects gene expression, fusion oncogenes and splicing isoforms.
  • Small RNA Sequencing detects small RNA (microRNA) expression.
  • Single-Nuclei RNA Sequencing data will be generated for ~10,000 nuclei and >30,000 read pairs per nucleus.

DNA Sequencing

  • Infinium Global Diversity Assay detects copy number alterations.
  • Infinium EPIC Assay detects methylation at CpG islands based on highly multiplexed genotyping of bisulfate-converted genomic DNA. Methylation analysis provides relevant information regarding the regulation of DNA sections that may go undetected when using sequencing analyses alone.

Spatial Transcriptomics

  • Spatial transcriptomics provides quantitative gene expression data and visualization of the distribution of mRNAs within tissue sections. Spatial Gene Expression will typically be performed on selected cases.

A diagram showing how the CATC Biorepository has been designed to accelerate translational research and precision medicine.