Genetic Test Details
Ashkenazi Jewish Panel
Test Information
- Titre
-
Ashkenazi Jewish Panel
- Catégorie
- Cancer
- Sub Category
-
Ashkenazi Jewish Panel
- Gene/Platform/Region List
-
NM_000038.6(APC):c.3920T>A, p.(Ile1307Lys); NM_007294.4(BRCA1):c.68_69del, p.(Glu23Valfs*17); NM_007294.4(BRCA1):c.5266dup, p.(Gln1756Profs*74); NM_000059.4(BRCA2):c.5946del, p.(Ser1982Argfs*22); NM_007194.4(CHEK2):c.1283C>T, p.(Ser428Phe); 40 kb duplication upstream of GREM1 (SCG5 region); NM_000251.3(MSH2):c.1906G>C, p.(Ala636Pro); NM_000179.3 (MSH6):c.3984_3987dup, p.(Leu1330Valfs*12); NM_000179.3(MSH6):c.3959_3962del, p.(Ala1320Glufs*6)
- Test type
- Gene Panel
- Samples Accepted
- Blood, DNA, Fibroblasts
- Indications
- Carrier Cascade Testing, Diagnostics
- Test Methodology
- CNV, Sequencing
- Disease/Condition
-
Ashkenazi Jewish mutations
Dernière Mise à Jour: 04 juin 2026
