Number of Panel Genes: 

Connective Tissue Gene Tests Craniosynostosis core NextGen sequencing panel consists of five genes associated with syndromic or non-syndromic craniosynostosis. Copy number variation (CNV) analysis of these genes using a high density targeted (HDT) array is also offered as a panel. Additionally, CTGT offers a comprehensive test (both NGS panel and HDT array panel) for these genes. Individual gene sequencing and deletion/duplication test is also available.

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Tests Available

5 Panel Genes: FGFR1, FGFR2, FGFR3, TCF12, TWIST1
Next Generation Sequencing
Test Code: 5194
Deletion / Duplication
Test Code: 5195
NGS/Del Dup Comprehensive
Test Code: 5196

Test Details

Technical Information
Panel Genes: 
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
CPT Codes: 
81404 x 1
81405 x 1
81479 x 3
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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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