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 consequence.read more

Tests Available

By gene: RUNX2
Next Generation Sequencing
$990
Test Code: 1080
Deletion / Duplication
$990
Test Code: 1392
NGS/Del Dup Comprehensive
$1,365
Test Code: 1507

Test Details

Technical Information
Genes: 
RUNX2
Disease Groups: 
Skeletal Dysplasias
MIM: 
119600
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1080
Turnaround Time: 
Typically 3 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: minimum of 10 µg (at a concentration of at least 50 ng/µl)
  3. Fibroblasts: 4 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: 4 confluent T-25 flasks derived from amnio or CVS samples
  2. Genomic DNA: minimum of 10 µg (at a concentration of at least 50 ng/µl)
Shipping: 
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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