Breast cancer, hereditary (13 genes) - ULG
Full name: |
Breast cancer, hereditary (13 genes) - ULG
|
Abbreviation: |
HBOC (13 genes)
|
Type of panel: | |
Provider: |
Twist Bioscience
|
Quality coverage: |
30x
|
Laboratory: | |
Created: |
16 Dec 2020 - 10:10
|
Changed: |
15 Dec 2022 - 11:24
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ATM | 100.00 | 0 | |
BARD1 | 100.00 | 0 | |
BRCA1 | 100.00 | 1 | CNV assessed by MLPA |
BRCA2 | 100.00 | 1 | CNV assessed by MLPA |
BRIP1 | 100.00 | 0 | |
CHEK2 | 100.00 | 0 | |
MLH1 | 100.00 | 1 | CNV assessed by MLPA (on demand) |
MSH2 | 100.00 | 1 | CNV assessed by MLPA (on demand) |
MSH6 | 100.00 | 1 | CNV assessed by MLPA (on demand) |
PALB2 | 100.00 | 0 | |
RAD51C | 100.00 | 0 | |
RAD51D | 100.00 | 0 | |
TP53 | 100.00 | 1 | CNV assessed by MLPA (on demand) |