Number of Panel Genes: 
47

Connective Tissue Gene Tests' Spondylo-Epi-Metaphyseal dysplasias NGS panel consists of forty-seven genes. It covers various chondrodysplasias with significant spinal, epiphyseal and/or metaphyseal involvement. Copy number variation (CNV) analysis of the Spondylo-Epi-Metaphyseal dysplasias 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.read more

Tests Available

47 Panel Genes: ACP5, B3GALT6, B3GAT3, BGN, 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, NKX3-2, PAPSS2, PAM16, PCYT1A, PTH1R, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Next Generation Sequencing
$1,900
Test Code: 5185
Deletion / Duplication
$1,500
Test Code: 5186
HDT Array test is not available for B3GALT6, GPX4 & SBDS
NGS/Del Dup Comprehensive
$3,250
Test Code: 5187
HDT Array test is not available for B3GALT6, GPX4 & SBDS

Test Details

Technical Information
Panel Genes: 
ACP5, B3GALT6, B3GAT3, BGN, 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, NKX3-2, PAPSS2, PAM16, PCYT1A, PTH1R, RMRP, RNU4ATAC, RSPRY1, RUNX2, SBDS, SLC26A2, SMARCAL1, TRAPPC2, TRPV4, WISP3, XYLT1
Disease Groups: 
Skeletal Dysplasias
Billing
Price: 
$1,900
CPT Codes: 
81479 x 47
Ordering
SKU:
5185
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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