Number of Panel Genes: 
28

Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS 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.

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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
$1,620
Test Code: 5109
Deletion / Duplication
$990
Test Code: 5110
NGS/Del Dup Comprehensive
$1,995
Test Code: 5111

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: 
$1,620
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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