Molecular Genetics Tests




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Methodology Test Name Test Description Results per page:
Molecular ABL1 Kinase Domain Mutation Analysis RT-PCR and sequencing of the BCR-ABL1 fusion transcript for qualitative detection of mutations associated with resistance to imatinib and other tyrosine kinase inhibitors.  Analysis includes detection of the common T315I mutation.
Molecular AML Reflex Panel Routine cytogenetics with automatic addition of the NeoTYPE™ AML Prognostic Profile when cytogenetics results show intermediate risk including normal cytogenetics, +6, +8, -Y, or del(12p).
Molecular ASXL1 Mutation Analysis Bi-directional sequencing of the majority of exons 13 and 14 of ASXL1, corresponding to amino acids 406-1396.
Molecular ATRX Mutation Analysis Bi-directional Sanger sequencing of ATRX is performed using PCR primers designed to target hotspot mutations in exons 8-10, 12-15, 17, 18, 21, 22, 26, 30-32 and 36.
Molecular B-Cell & T-Cell Gene Rearrangement PCR for detection of clonal IgH, Ig kappa, and T cell receptor gene gamma gene rearragements.
Molecular B-Cell Gene Rearrangement Detection of clonal IgH and Ig kappa gene rearragements by PCR of IgH framework regions 1, 2, 3 and joining regions, Ig kappa FR3 and Jk regions.
Molecular BCL1 Translocation, t(11;14) Real-time PCR for quantitative detection of t(11;14) BCL1/IgH rearrangements. Analytical sensitivity is approximately 1 tumor cell in 1000 normal cells. Positive results are reported as a ratio between quantities of (11;14) DNA and a normal control gene. This translocation is also known as CCND1/IgH or BCL1/JH.
Molecular BCR-ABL1 Translocation, t(9;22) Real-time RT-PCR for detection of t(9;22) BCR-ABL1 fusion transcripts that result in major p210 (E13, E14) or minor p190 (E1) fusion proteins with option to add p230 detection (micro or atypical variant). For p210 and p190, analytical sensitivity is 1 tumor cell in 100,000 normal cells, log reduction score is reported, and longitudinal data will appear as a NeoTRACK Result on the report. For p230, results are reported qualitatively. Testing is New York state approved for p210 and p190 only.
Molecular BRAF Mutation Analysis

Bi-directional sequencing of exon 15 of the BRAF gene, which includes qualitative detection of V600 mutations E, K, D, and others, plus other significant exon 15 mutations. For solid tumors, tumor enrichment is performed before extraction.

See more details about BRAF Mutation Analysis in Melanoma.

Molecular 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 insertions/deletions, and large deletions/duplications. This test maybe ordered separately or in combination with BRCA2.
Note: Patient and physician or genetic counselor signatures on the NeoGenomics Consent for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.
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