Birt-Hogg-Dube Syndrome

Alternative Names/Synonyms	BHD, Germline, Predictive, Hereditary Cancer, HCT, Hereditary Cancer Testing, FLCN
Laboratory	Diagnostic Medical Genetics
Sub-section	Advanced Molecular Diagnostics
Specimen Type	Blood or DNA
Test Code	BHDU1

Specimen Requirements (Sample Type)

Peripheral blood or DNA (please specify source if DNA)

Specimen Requirements (Volume (mL))

2 tubes x 4 mL for blood
5 ug of DNA in TRIS-HCl or water only (no EDTA)

Specimen Requirements (Tube Type)

EDTA lavender top for blood
Collection Containers – Tube Types
or
2 mL screw top tube for DNA

Collection Requirements

Blood Collection Instructions

Storage / Shipment Details

Collect and ship samples at room temperature on the same day. Samples should be received within 24 to 48 hours.

Sample Stability

Room Temperature: 7 days

Cause for Rejection

Specimen Acceptability and Transport Guidance

Instrument, Methodology

Sequencing + CNV

Test Availability

STAT, Routine; Monday to Friday

STAT Turnaround Time

4 weeks

Routine Turnaround Time

6-8 weeks

Laboratory Contact Information

molecularlab.MSH@sinaihealth.ca

Approval Required

Yes if not associated with a Genetic Counsellor

Gene(s)

FLCN

Sample Processing / Delivery

Samples received and processed Monday to Friday 8:30 am - 4:30 pm

Funded for patients with OHIP

Yes

Disease/Body Site

Hereditary Cancer; Indications outlined by Ontario Health (formerly Cancer Care Ontario); see link in Clinical Significance section