Number of Panel Genes: 
14

Connective Tissue Gene Tests Dense bone dysplasia NextGen sequencing panel consists of fourteen genes associated with dense bone dysplasias. Copy number variation (CNV) analysis of the dense bone dysplasia 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

14 Panel Genes: ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Next Generation Sequencing
$1,370
Test Code: 5088
Deletion / Duplication
$1,150
Test Code: 5089
NGS/Del Dup Comprehensive
$2,370
Test Code: 5090

Test Details

Technical Information
Panel Genes: 
ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
123000
114000
218400
259100
112250
151050
614441
122860
269500
239100
231095
131300
239000
221770
Billing
Price: 
$1,370
CPT Codes: 
81479 x 13
81408 x 1
Ordering
SKU:
5088
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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