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.

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. The differential diagnosis includes arthrogryposis multiplex congenita, osteogenesis imperfecta types III and IV, recessively inherited osteogenesis imperfecta (MIM 610854 / 610682 / 610915), and congenital contractural arachnodactyly (CCA; MIM 121050). Bruck syndrome 2 is caused by mutations in the PLOD2 gene encoding lysyl hydroxylase 2. Bruck syndrome 1 (BRKS1; MIM 259450) is phenotypically similar to BRKS2. BRKS1 is an autosomal recessive disorder caused by mutations in the FKBP10 gene. Mutations in this gene also cause osteogenesis imperfecta, type XI (MIM 610968)

Gene(s)

PLOD2

Disease Group

Skeletal disorders

MIM

609220

Methodology

Billing

CPT Code(s)
81479 x 1

Ordering

Test Code
1693

Additional Test Codes
1068 —Next Generation Sequencing Only, 1692 — Deletion / Duplication Only

Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.

Prenatal Specimens
Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
Genomic DNA: minimum of 3 µg (at a concentration of at least 30 ng/µl)

Non-Prenatal Specimens
Whole blood: purple-top (EDTA) tube, minimum of 3 ml
Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Fibroblasts: 2 confluent T-25 flasks
Saliva: only samples collected in Oragene DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children are accepted

Shipping
Ship all specimen types at room temperature by overnight courier. Do not freeze.

The American Medical Association (AMA) Current Procedural Terminology (CPT) codes published by HNL Lab Medicine are guidelines and are intended for informational purposes only. CPT coding is the exclusive responsibility of the billing entity. HNL Lab Medicine strongly recommends confirmation of CPT codes with third-party payors and/or the AMA. We assume no responsibility for billing errors due to reliance upon CPT codes provided by HNL Lab Medicine.

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