Number of Panel Genes: 
14

Connective Tissue Gene Tests Osteopetrosis NextGen sequencing panel consists of fourteen genes associated with osteopetrosis. The panel includes both autosomal dominant and autosomal recessive forms of osteopetrosis. Copy number variation (CNV) analysis of the osteopetrosis 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: AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Next Generation Sequencing
$1,470
Test Code: 5106
Deletion / Duplication
$1,150
Test Code: 5107
HDT array is not available for FAM20C and PLEKHM1
NGS/Del Dup Comprehensive
$2,470
Test Code: 5108
HDT array is not available for FAM20C and PLEKHM1

Test Details

Technical Information
Panel Genes: 
AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
MIM: 
259730
166600
611490
607634
259720
611466
259700
612301
259710
615085
300373
265800
259775
166700
Billing
Price: 
$1,470
CPT Codes: 
81479 x 13
81406 x 1
Ordering
SKU:
5106
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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