RUNX2 related disorders - Cleidocranial dysplasia (CCD; MIM 119600) is an autosomal dominant disorder caused by mutations in the runt-related transcription factor 2 gene (RUNX2, CBFA1). The RUNX2 product is involved in the differentiation of mesenchymal precursor cells towards osteoblasts. The phenotypic affects of mutations in RUNX2 are potentially protean in more

Tests Available

By gene: RUNX2
Next Generation Sequencing
Test Code: 1080
Deletion / Duplication
Test Code: 1392
NGS/Del Dup Comprehensive
Test Code: 1507

Test Details

Technical Information
Disease Groups: 
Skeletal Dysplasias
CPT Codes: 
81479 x 1
Turnaround Time: 
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Non-Prenatal Specimens: 
  1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
  3. Fibroblasts: 2 confluent T-25 flasks
  4. Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens: 
  1. Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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