Displaying 1 - 13 of 13 tests
BRCA1 Mutation & Del/Dup Analysis This test is performed by sequencing the entire BRCA1 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
BRCA1/2 Mutation & Del/Dup Analysis This test is performed by sequencing the entire BRCA1 and BRCA2 genes using massive parallel sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point…
Molecular
BRCA2 Mutation & Del/Dup Analysis This test is performed by sequencing the entire BRCA2 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
Comprehensive Hereditary Cancer Panel Testing is performed by Blueprint Genetics.  Note: Patient signature on the Blueprint Genetics Informed Consent Form is required. Testing will be put on hold until a signed form is received. 
Molecular
EPCAM Mutation & Del/Dup Analysis This test is performed by sequencing the entire EPCAM gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
Bone Marrow Failure Syndrome Panel Testing is performed by Blueprint Genetics.  Note: Patient signature on the Blueprint Genetics Informed Consent Form is required. Testing will be put on hold until a signed form is received.
Molecular
Lynch Syndrome This test is performed by sequencing the entire EPCAM, MLH1, MSH2, MSH6 and PMS2 genes using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to…
Molecular
MLH1 Mutation & Del/Dup Analysis This test is performed by sequencing the entire MLH1 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
MSH2 Mutation & Del/Dup Analysis This test is performed by sequencing the entire MSH2 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
MSH6 Mutation & Del/Dup Analysis This test is performed by sequencing the entire MSH6 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
PMS2 Mutation & Del/Dup Analysis This test is performed by sequencing the entire PMS2 gene using next-gen sequencing complemented by conventional Sanger sequencing or other molecular methodologies to detect point mutations, small…
Molecular
EGFR T790M Germline Mutation Analysis Bidirectional sequence analysis of EGFR exon 20 in peripheral blood for detection of T790M germline mutation. Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent…
Molecular
HOXB13 Genotyping This test is performed on a patient's blood specimen to look for germline genetic variants. The method is bi-directional sequencing of exons 1 and 2 of the HOXB13 gene for detection of the G84E…
Molecular