Birt-Hogg-Dube Syndrome via the FLCN Gene
Use
This test is designed for individuals who have clinical or suspected diagnosis of Birt-Hogg-Dubé syndrome, those with early-onset renal cancer diagnosed before age 50, and individuals with a family member presumed to have Birt-Hogg-Dubé syndrome without previous genetic testing. It is also suitable for individuals without access to the specific variant information for a family member who has genetically confirmed Birt-Hogg-Dubé syndrome.
Special Instructions
Individuals may want to use this test if they or their family members have relevant clinical features of Birt-Hogg-Dubé syndrome but lack genetic confirmation. The PGselect Platform is used for this test, integrating both NGS and CNV analysis.
Limitations
The test has not been cleared or approved by the US Food and Drug Administration and follows College of American Pathologists (CAP) and Clinical Laboratory Improvements Amendments (CLIA) regulations. Areas of low coverage might not be detected reliably. Deletions or duplications involving large intronic regions may not be detected if outside the targeted regions.
Methodology
NGS (Targeted)
Biomarkers
Result Turnaround Time
14-21 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
Not provided
Minimum Volume
Not provided