Targeted analysis of the founder mutations found within the Ashkenazi Jewish population. May be used as a first line test for individuals of Ashkenazi Jewish descent, if negative the option to run a Comprehensive BRCA1/2 Analysis is available.
To screen for three founder mutations in BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2(c.5946delT) genes in Ashkenazi Jewish population. These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.
Sequencing for the three known Ashkenazi Jewish founder mutations BRCA1 (c.68_69delAG and c.5266dupC) and BRCA2 (c.5946delT). These mutations are also known by their previous nomenlcature, namely 187delAG and 5382insC for the BRCA1 and 6174delT for the BRCA2 gene.
Lavender-top (EDTA) tube or yellow-top (ACD) tube
A BRCAssure clinical questionnaire should be submitted with specimens. Contact CMBP genetics services at 800-345-4363 to coordinate testing.
Causes for Rejection
Frozen whole blood, serum or marrow; leaking tube; clotted blood or marrow; grossly hemolyzed specimen; incorrect anticoagulant
Maintain specimen at room temperature.
Sequencing does not reliably detect mosaic variants; large deletions; large duplications, inversions, or other rearrangements; deep intronic variants; it may be affected by allele-dropout; it may not allow determination of the exact numbers of T/A or microsatellite repeats; and it does not allow any conclusion as to whether two heterozygous variants are present on the same or on different chromosome copies.