Bruck syndrome 2 (BRKS2; MIM 609220) is an autosomal recessively inherited disorder characterized by congenital joint contractures and multiple fractures in infancy and childhood. Additional findings include kyphoscoliosis, pectus, short stature, angular deformities of long bones, persistent osteopenia, pterygia, and clubfoot. The fracture frequency decreases with skeletal maturity but the spine deformities are progressive.read more

Tests Available

By gene: PLOD2
Next Generation Sequencing
$990
Test Code: 1068
Deletion / Duplication
$990
Test Code: 1692
NGS/Del Dup Comprehensive
$1,365
Test Code: 1693

Related Panels

Test Details

Technical Information
Genes: 
PLOD2
Disease Groups: 
Osteogenesis Imperfecta and Low Bone Density Disorders
MIM: 
609220
Billing
Price: 
$990
CPT Codes: 
81479 x 1
Ordering
SKU:
1068
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.

Search Tests

TIP: enter a partial disorder name or gene to widen your search