Buschke-Ollendorff syndrome (BOS; MIM 166700) or osteopoikilosis (OPK) is an autosomal dominant connective tissue disorder caused by mutations in the LEMD3 gene. BOS is characterized by multiple, nontender and firm cutaneous nevi or nodules. The cutaneous nevi may be elastin rich or collagen rich. OPK is defined as “spotted bone”, consisting of multiple hyperostotic foci of old remolded bone.read more

Tests Available

By gene: LEMD3
Next Generation Sequencing
Test Code: 1069
Deletion / Duplication
Test Code: 1070
NGS/Del Dup Comprehensive
Test Code: 1490

Test Details

Technical Information
Disease Groups: 
Osteopetrosis and High Bone Density Disorders
Skin, Tooth, Nail and Hair 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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