Paget disease of bone (PDB) is a common metabolic bone disorder characterized by focal and disorganized increases of bone turnover affecting one or more sites throughout the skeleton. Most patients with PDB are asymptomatic but can present with bone pain, osteoarthritis, pathological fracture, bone deformity, deafness, and nerve compression more

Tests Available

By gene: VCP
Next Generation Sequencing
Test Code: 2400
Deletion / Duplication
Test Code: 2401
NGS/Del Dup Comprehensive
Test Code: 2402

Test Details

Technical Information
Disease Groups: 
Metabolic and Endocrine Disorders
Neurological and Muscular Disorders
CPT Codes: 
81479 x 1
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: 2 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: 2 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)
Ship all specimen types at room temperature by overnight courier. Do not freeze.

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