Number of Panel Genes: 
25

Connective Tissue Gene Tests Craniosynostosis NextGen sequencing panel consists of twenty-five genes associated with craniosynostosis. Copy number variation (CNV) analysis of the craniosynostosis 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. Panel genes are also offered as individual sequencing and deletion/duplication tests, unless otherwise indicated.

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Tests Available

25 Panel Genes: CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
Next Generation Sequencing
$1,800
Test Code: 5085
Deletion / Duplication
$1,300
Test Code: 5086
CYP26B1 analysis of exons 3-6 ONLY
NGS/Del Dup Comprehensive
$2,950
Test Code: 5087
CYP26B1 Del/Dup analysis of exons 3-6 ONLY

Test Details

Technical Information
Panel Genes: 
CDC45, CYP26B1, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FREM1, GLI3, IFT43, IFT122, IL11RA, MEGF8, MSX2, POR, RAB23, RECQL4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, WDR19, WDR35, ZIC1
Disease Groups: 
Craniosynostosis and Craniofacial Disorders
MIM: 
304110
600775
101600
101200
123790
614592
123500
123150
101600
612247
602849
614485
175700
614099
218330
614188
614976
604757
201750
201000
218600
182212
615314
609192
610168
123100
101400
614378
613610
616482
614416
Billing
Price: 
$1,800
CPT Codes: 
81479 x 21
81405 x 3
81404 x 1
Ordering
SKU:
5085
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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