Birt-Hogg-Dube syndrome (BHD; MIM 135150) also known as Hornstein-Knickenberg syndrome, is an autosomal dominant genodermatosis. It is characterized by cutaneous findings (fibrofolliculomas and acrochordons), pulmonary cysts and spontaneous pneumothorax, and renal cysts and tumors. Additional findings may include facial papules, intestinal polyposis, colorectal adenomas,  parotid oncocytomas, neural tissue tumors, lipomas, and more

Tests Available

By gene: FLCN
Next Generation Sequencing
Test Code: 2223
Deletion / Duplication
Test Code: 2224
NGS/Del Dup Comprehensive
Test Code: 2225

Test Details

Technical Information
Disease Groups: 
Lung Diseases
Skin, Tooth, Nail and Hair Disorders
Kidney 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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