Ashkenazi Jewish Panel
| Test Information | |
|---|---|
| Test Name | Ashkenazi Jewish Panel |
| Lab (Location) | North York 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.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.3984_3987dupGTCA (p.Leu1330Valfs*12) |
| Test type | Targeted Variant |
| Samples Accepted | Blood, DNA, Cultured Cells, Saliva, Tissue |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | CNV, Sequencing |
| Methodology Notes | Targeted Mutation |
| Diseases/Conditions | Ashkenazi Jewish Panel |