Craniosynostosis, type 1 (CRS1; MIM 123100) is an autosomal dominant disorder caused by mutations in the TWIST1 gene. TWIST1 encodes a helix-loop-helix transcription factor (Twist-related protein 1) whose downstream targets include fibroblast growth factor receptors, RUNX2 and osteoblast marker genes. Craniosynostosis without additional findings is the defining feature of CRS1.read more

Tests Available

By gene: TWIST1
Sanger Sequencing
$445
Test Code: 1092
Deletion / Duplication
$680
Test Code: 1093
Sanger/Del Dup Comprehensive
$1,025
Test Code: 1513

Related Panels

Test Details

Technical Information
Genes: 
TWIST1
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
123100
Billing
Price: 
$445
CPT Codes: 
81404 x 1
Ordering
SKU:
1092
Turnaround Time: 
Typically 1 to 2 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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