Number of Panel Genes: 
51

Connective Tissue Gene Tests' Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of fifty-one genes. It covers various chondrodysplasias with significant spinal, epiphyseal and/or metaphyseal involvement.

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Tests Available

51 Panel Genes: ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DYM, DDR2, EIF2AK3, FGFR3, FLNB, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Next Generation Sequencing
$1,900
Test Code: 5185
Deletion / Duplication
$990
Test Code: 5186
NGS/Del Dup Comprehensive
$2,275
Test Code: 5187

Test Details

Technical Information
Panel Genes: 
ACP5, B3GALT6, B3GAT3, BGN, C21orf2, CANT1, CHST3, COL2A1, COL9A1, COL9A2, COL9A3, COL10A1, COL11A1, COL11A2, COMP, DYM, DDR2, EIF2AK3, FGFR3, FLNB, GPX4, HSPG2, IHH, IMPAD1, INPPL1, KIF22, LIFR, LONP1, MATN3, MMP9, MMP13, NANS, NEK1, NKX3-2, NPR2, PAPSS2, PAM16, PCYT1A, PTH1R, RAB33B, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Disease Groups: 
Skeletal Dysplasias
Billing
Price: 
$1,900
CPT Codes: 
81479 x 51
Ordering
SKU:
5185
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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