Number of Panel Genes: 
15

Connective Tissue Gene Tests skeletal dysplasia ciliopathy NGS panel is composed of genes associated with skeletal dysplasias which result from abnormalities in the structure or function of cilia. NGS skeletal dysplasia panels for other disorders, which are not classified as ciliopathies, are offered separately. Copy number variation (CNV) analysis of the skeletal dysplasia ciliopathy genes using high density targeted (HDT) array is also offered as a panel.read more

Tests Available

15 Panel Genes: DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122, IFT140, IFT172, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
Next Generation Sequencing
$1,900
Test Code: 5112
Deletion / Duplication
$1,150
Test Code: 5113
NGS/Del Dup Comprehensive
$2,900
Test Code: 5114

Test Details

Technical Information
Panel Genes: 
DYNC2H1, EVC, EVC2, IFT43, IFT80, IFT122, IFT140, IFT172, KIAA0586, NEK1, TTC21B, WDR19, WDR34, WDR35, WDR60
Disease Groups: 
Skeletal Ciliopathies
MIM: 
613091
225500
193530
225500
614099
611263
218330
266920
615630
263520
613819
614376
614378
615633
613610
614091
615503
Billing
Price: 
$1,900
CPT Codes: 
81479 x 15
Ordering
SKU:
5112
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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