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Test Code
1490
Test Name
Buschke-Ollendorff Syndrome
CPT Codes
81479
Expected Turnaround Time
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
Clinical Utility
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
Specimen and Container Info

Non-Prenatal Specimens

Preferred/Alternate

Specimen Type

Containers

Volume

Preferred Specimen Type

Whole Blood

Lavender Top (EDTA)

3 mL

Alternate Specimen Type

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

Alternate Specimen Type

Fibroblasts

T-25 Flasks

2 confluent T-25 flasks, filled to capacity

Alternate Specimen Type

Saliva (Whole blood is recommended for CNV)

DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children

Follow kit instructions (www.dnagenotek.com)

Prenatal Specimens

Either specimen type below is acceptable.

Specimen Type

Containers

Volume

Cultured cells

T-25 Flasks

2 confluent T-25 flasks derived from amnio or CVS samples.

Genomic DNA

1.5 mL Tube

3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution.

NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico.
Transport Instructions
  • Transport at room temperature within 24 hours.
  • If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
  • Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours. 
Stability Requirements

Room Temperature

24 hours

Refrigerated

72 hours
Causes for Rejection
  • Improperly labeled specimen (minimum of two patient identifiers)
  • Inappropriate specimen type
  • Incomplete or incorrect test request form
  • Insufficient volume
  • Specimen has leaked in transit
  • Specimen without a test order
Methodology
Next Generation Sequencing and Copy Number Variation Analysis
Performing Location
Genomics - Snowdrift
Alternate Names
BOS; osteopoikilosis
Description

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 %u201Cspotted bone%u201D, consisting of multiple hyperostotic foci of old remolded bone. OPK may occur in isolation, or it can occur in combination with the elastin or collagen rich cutaneous nodules. The combination of OPK and cutaneous nodules or nevi is considered as BOS. Variable expression may occur in families. Some family members may have both skin and bone lesions while others may lack one or the other findings. LEMD3 encodes the LEM domain-containing protein 3, an integral protein of the inner nuclear membrane. This molecule is thought to antagonize bone morphogenetic protein and transforming growth factor %u2013%u03B2 signaling through interactions with Smad family proteins. LEMD3 loss of function mutations have been described in BOS and OPK.
Testing Schedule
Monday-Friday
Genes
LEMD3
MIM
166700
Disease Group
Skeletal Disorders, Skin
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. View the Terms.
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