Ashkenazi Jewish Cancer Panel

Alternative Names/Synonyms	AJ, AJCP, Germline, Predictive, Hereditary Cancer, HCT, Hereditary Cancer Testing, APC c.3920T>A p.Ile1307Lys, BRCA1 c.68_69del p.Glu23fs, BRCA1 c.5266dupC p.Gln1756Profs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs, MSH6 c.3959_3962delCAAG p.Ala1320Glufs
Laboratory	Diagnostic Medical Genetics
Sub-section	Advanced Molecular Genetics
Specimen Type	Blood or DNA
Test Code	AJC01

Ordering Instructions, Requisition

https://www.mountsinai.on.ca/care/pathology/laboratory-forms-and-requisitions/molecular-pathology-requisition

Supporting Documents

Hereditary Cancer Testing Reference Sequences

Clinical Significance (If applicable)

Please refer to Genetic Testing Program | Cancer Care Ontario
https://www.cancercareontario.ca/en/guidelines-advice/treatment-modality/pathology-laboratory-testing/genetic-testing-resources

Specimen Requirements (Sample Type)

Peripheral blood or DNA (please specify source if DNA)

Specimen Requirements (Volume (mL))

2 tubes x 4 mL of 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

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

Next Generation Sequencing

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)

APC c.3920T>A p.Ile1307Lys, BRCA1 c.68_69del p.Glu23fs, BRCA1 c.5266dupC p.Gln1756Profs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs, MSH6 c.3959_3962delCAAG p.Ala1320Glufs

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