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 angiolipomas.read more
Tests Available
By gene: FLCN
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Next Generation Sequencing
Test Code: 2283
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Deletion / Duplication
Test Code: 2284
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NGS/Del Dup Comprehensive
Test Code: 2285
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Test Details
Technical Information
Genes:
FLCN
Disease Groups:
Lung Diseases
Skin, Tooth, Nail and Hair Disorders
Kidney Disorders
MIM:
173600
Billing
CPT Codes:
81479 x 1
Ordering
SKU:
2283 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:
- 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
Prenatal Specimens:
- Cultured cells: 2 confluent T-25 flasks derived from amnio or CVS samples
- Genomic DNA: a minimum of 3 µg (at a concentration of at least 30 ng/µl)
Shipping:
Ship all specimen types at room temperature by overnight courier. Do not freeze.