Ashkenazi Jewish Panel
| Test Information | |
|---|---|
| Test Name | Ashkenazi Jewish Panel |
| Lab (Location) | Mount Sinai Hospital |
| Category | Cancer |
| Subcategory | Ashkenazi Jewish Panel |
| Gene/Platform/Region List | APC c.3920T>A p.Ile1307Lys, BRCA1 c.5266dupC p.Gln1756Profs, BRCA1 c.68_69del p.Glu23fs, BRCA2 c.5946del p.Ser1982fs, CHEK2 c.1283C>T p.Ser428Phe, GREM1 40 kb dup, MSH2 c.1906G>C p.Ala636Pro, MSH6 c.3959_3962delCAAG p.Ala1320Glufs, MSH6 c.3984_3987dupGTCA p.Leu1330Valfs |
| Test type | Targeted Variant |
| Samples Accepted | Blood, DNA |
| Indications Diagnosis | Diagnosis, Carrier / Cascade Testing |
| Test Methodology | Sequencing |
| Methodology Notes | Targeted Mutation, GREM1 CNV only |
| Diseases/Conditions | Ashkenazi Jewish Panel |