Number of Panel Genes: 
28

Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NextGen sequencing panel consists of twenty-eight genes associated with increased bone density. The panel includes both autosomal dominant and autosomal recessive forms of osteopetrosis and dense bone dysplasias. Copy number variation (CNV) analysis of the genes using a high density targeted (HDT) array is also offered as a panel.read more

Tests Available

28 Panel Genes: AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
Next Generation Sequencing
$1,990
Test Code: 5109
Deletion / Duplication
$1,300
Test Code: 5110
HDT array is not available for FAM20C, PLEKHM1
NGS/Del Dup Comprehensive
$3,140
Test Code: 5111
HDT array is not available for FAM20C, PLEKHM1

Test Details

Technical Information
Panel Genes: 
AMER1, ANKH, CA2, CLCN7, COL1A1, CTSK, DLX3, FAM20C, FERMT3, GJA1, HPGD, LEMD3, LRP4, LRP5, MTAP, OSTM1, PLEKHM1, PTDSS1, SLCO2A1, SNX10, SOST, TBXAS1, TCIRG1, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11, TYROBP
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
300373
123000
259730
166600
611490
114000
265800
259775
218400
259100
166700
607634
112250
259720
611497
151050
614441
615085
122860
269500
239100
231095
259700
131300
612301
239000
259710
221770
Billing
Price: 
$1,990
CPT Codes: 
81479 x 26
81406 x 1
81408 x 1
Ordering
SKU:
5109
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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