Number of Panel Genes: 
19

Connective Tissue Gene Tests offers three options for skeletal dysplasia testing utilizing NextGen sequencing technology. The core skeletal dysplasia panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias that occur with a high incidence. The extended skeletal dysplasia panel contains genes linked to disorders that are also phenotypically severe but occur less frequently. These two panels may also be ordered as a single combined panel.read more

Tests Available

19 Panel Genes: ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
Next Generation Sequencing
$1,490
Test Code: 5121
Deletion / Duplication
$1,150
Test Code: 5122
HDT Array test is not available for SBDS
NGS/Del Dup Comprehensive
$2,490
Test Code: 5123
HDT Array test is not available for SBDS

Test Details

Technical Information
Panel Genes: 
ARSE, COL10A1, COL11A1, COL11A2, DDR2, EBP, FLNB, HSPG2, LBR, LIFR, MMP9, MMP13, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC35D1, TRPV4
Disease Groups: 
Skeletal Dysplasias
MIM: 
302950
228520
614524
271665
302960
108720
108721
112310
224410
255800
215140
601559
308050
215100
156400
215045
269250
156530
168400
Billing
Price: 
$1,490
CPT Codes: 
81479 x 19
Ordering
SKU:
5121
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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