Basal cell nevus syndrome (BCNS; MIM 109400) also known as Gorlin syndrome, is an autosomal dominant disease characterized by basal cell tumors, palmar and plantar pits, jaw cysts and skeletal anomalies. Radiological findings include calcification of the falx cerebri, bridged sella, bifid ribs, hemivertebrae, and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the more

Tests Available

By gene: PTCH1
Next Generation Sequencing
Test Code: 2211
Deletion / Duplication
Test Code: 2212
NGS/Del Dup Comprehensive
Test Code: 2213

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Test Details

Technical Information
Disease Groups: 
Skin, Tooth, Nail and Hair Disorders
Skeletal Dysplasias
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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