FLCN Gene Sequencing and Del/Dup
Genes
Conditions
- Birt-Hogg-Dube Syndrome
Clinical Utility
- An individual with a personal and family history of tumors or other clinical features associated with Birt-Hogg-Dubé syndrome (BHD), such as oncocytic, chromophobe, or oncocytic hybrid renal tumors; benign skin papules (fibrofolliculomas, trichodiscomas/angiofibromas, perifollicular fibromas, acrocordons); multiple bilateral lung cysts; spontaneous pneumothorax
- An individual with multiple skin papules with at least one biopsy-proven fibrofolliculoma
- An individual with bilateral or multi-focal oncocytic, chromophobe, or oncocytic hybrid renal tumors
- An individual with a personal and family history of unexplained isolated primary spontaneous pneumothorax (PSP)
- An unaffected individual with a family history suggestive of BHD (see above) when an affected individual is unavailable for his or her own genetic testing
Lab Method
- Capillary Sequencing
- Deletion/Duplication Analysis
Test Code
714
ABN Required
No
Turnaround Time**
3 weeks
Preferred Specimen
2-5 mL Blood - Lavender Top Tube
Alternative Specimen
Buccal Swabs | Fibroblasts (separate charge for cell culture may apply)
*The CPT codes provided are based on AMA guidelines and are for informational purposes only. CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payer being billed.
**Turnaround times are estimates and begin once the sample(s) begin processing at the GeneDx lab and could be extended in situations outside GeneDx’s control.
Test Documents
Billing
Targeted Variant Testing