0956 - FLCN gene, sequencing

Material & Volume
  • EDTA Blood, 1ml
Clinical Information

The Birt-Hogg-Dubé Syndrome (BHDS) is caused by an autosomal dominant inherited mutation in the ‘FLCNʼ gene. BHDS is characterised by fibrofolliculomas (benign moles or papules), pulmonary cysts, pneumothorax and/or kidney cell carcinomas. Patients can be affected to different extents: either all the symptoms or only a few or none of them can be present. Most of them appear in patients over 20 years of age in the form of fibrofolliculomas on the face, throat, ears and thorax, thus helping diagnosing ‘BHDS’.

Position / Price
Position: Mandatory provision
Price: CHF 338.40
+ Processing fee:
(per order and per day)
CHF 21.60
Method
  • Sanger Sequenzierung
Executing laboratory
labor team w ag
Blumeneggstrasse 55
9403 Goldach
Execution time
14 days
Contact
During opening-hours:
Outside opening-hours: