Ashkenazi Jewish Panel

Test Information
Test Name Ashkenazi Jewish Panel
Lab (Location) Kingston General Hospital
Category Cancer
Subcategory Ashkenazi Jewish Panel
Gene/Platform/Region List APC NM_000038.6 c.3920T>A (p.Ile1307Lys) (APC I1307K), BRCA1 NM_007294.3 c.5266dup (p.Gln1756Profs*74) 5382insC, BRCA1 NM_007294.3 c.68_69del (p.Glu23Valfs*17) 185delAG, BRCA2 NM_000059.3 c.5946del (p.Ser1982Argfs*22) 617delT, CHEK2 NM_007194.3 c.1283C>T (p.Ser428Phe) c.620C>T NM_001257387, GREM1 NM_013372.6 CNV analysis, MSH2 NM_000251.2 c.1906G>C (p.Ala636Pro) A636P, MSH6 NM_000179.2 c.3959_3962delCAAG (p.Ala1320Glufs*6), MSH6 NM_000179.2 c.3984_3987dupGTCA (p.Leu1330Valfs*12)
Test type Targeted Variant
Samples Accepted Blood
Indications Diagnosis Diagnosis, Carrier / Cascade Testing
Test Methodology CNV, Sequencing
Methodology Notes Targeted Mutation
Diseases/Conditions Ashkenazi Jewish Panel