Familial Melanoma (7 gene panel)

HCT, Hereditary Cancer Testing, Germline, Predictive, Hereditary Cancer, BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN
Diagnostic Medical Genetics
Advanced Molecular Diagnostics
Blood or DNA
FAME1

Supporting Documents

Other Information
Gene panels include both sequencing and deletion/duplication analysis with the exception of GREM1 and EPCAM which are analyzed for large deletions/duplications only. HOXB13 and APC GAPPS variant analysis will be targeted to known pathogenic variants.
Peripheral blood or DNA (please specify source if DNA)
2 tubes x 4 mL of blood
5 ug of DNA in TRIS-HCl or water only (no EDTA)
EDTA lavender top for blood
Collection Containers – Tube Types
or
2 mL screw top tube for DNA
Collect and ship samples at room temperature on the same day. Samples should be received within 24 to 48 hours.
Room Temperature: 7 days
Sequencing + CNV
STAT, Routine; Monday to Friday
4 weeks
6-8 weeks
molecularlab.MSH@sinaihealth.ca
Yes if not associated with a Genetic Counsellor
BAP1, BRCA2, CDK4, CDKN2A, MITF, POT1, PTEN
Samples received and processed Monday to Friday 8:30 am - 4:30 pm
Yes
Hereditary Cancer; Indications outlined by Ontario Health (formerly Cancer Care Ontario); see link in Clinical Significance section