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
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Sanger Sequencing
$445
Test Code: 1092
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Deletion / Duplication
$900
Test Code: 1093
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NGS/Del Dup Comprehensive
$1,100
Test Code: 1513
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Test Details
Technical Information
Genes:
TWIST1
Disease Groups:
Craniosynostosis and Craniofacial Disorders
MIM:
123100
Billing
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:
- Whole blood: purple-top (EDTA) tube, minimum of 3 ml
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
- Fibroblasts: 2 confluent T-25 flasks
- Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.