Number of Panel Genes: 
53

Connective Tissue Gene Tests’ Skeletal dysplasia and skeletal ciliopathy panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias. The genes constituting this panel have been selected with input from several clinical geneticists with expertise in the skeletal dysplasia field.

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Tests Available

53 Panel Genes: ALPL, ARSE, C21orf2, C2CD3, CEP120, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP9, MMP13, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60
Next Generation Sequencing
$1,400
Test Code: 5430
Deletion / Duplication
$990
Test Code: 5431
NGS/Del Dup Comprehensive
$1,600
Test Code: 5432

Test Details

Technical Information
Panel Genes: 
ALPL, ARSE, C21orf2, C2CD3, CEP120, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP9, MMP13, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60
Disease Groups: 
Skeletal Ciliopathies
Skeletal Dysplasias
Billing
Price: 
$1,400
CPT Codes: 
81408 x 2
81479 x 51
Ordering
SKU:
5430
Turnaround Time: 
Typically 2 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: a minimum of 3 µg (at a concentration of at least 30 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: 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.

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