Number of Panel Genes: 
14

Connective Tissue Gene Tests Dense bone dysplasia NextGen sequencing panel consists of fourteen genes associated with dense bone dysplasias.

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Tests Available

14 Panel Genes: ANKH, COL1A1, DLX3, GJA1, HPGD, LRP4, MTAP, PTDSS1, SLCO2A1, SOST, TBXAS1, TGFB1, TNFRSF11B, TYROBP
Next Generation Sequencing
$1,320
Test Code: 5088
Deletion / Duplication
$990
Test Code: 5089
NGS/Del Dup Comprehensive
$1,695
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: 
$1,320
CPT Codes: 
81479 x 13
81408 x 1
Ordering
SKU:
5088
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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