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). Clients may choose reflex to either the Comprehensive or Concise NeoTYPE Profile (see separate molecular test listing for NeoTYPE AML Prognostic Profile).
Molecular ASXL1 Mutation Analysis Bi-directional sequencing of the majority of exons 13 and 14 of ASXL1, corresponding to amino acids 406-1396. Testing is available separately or as part of the NeoTYPE™ AML Prognostic Profile, NeoTYPE™ MDS/CMML Profile, NeoTYPE™ MPN Profile and NeoTYPE™ Myeloid Disorders Profile.
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 BCL2 Translocation, t(14;18) PCR and fragment analysis for quantitative detection of IGH-BCL2 translocations associated with 70-80% of follicular lymphoma and approximately 20% of diffuse large B-cell lymphoma. Translocations involving the major (MBR), minor (MCR), and 3' MBR sub-cluster regions of BCL2 are analyzed. Positive results quantify the ratio of mutant BCL2 to internal control DNA. Testing may be performed on plasma to increase sensitivity.
Molecular BCR-ABL1 Translocation, t(9;22) – quantitative

Real-time RT-PCR for detection of t(9;22) BCR-ABL1 fusion transcripts that result in p190 (E1) or p210 (E13, E14) fusion proteins. Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Log reduction score is reported. Longitudinal data will appear as a NeoTRACK Result on the report. 

Testing is approved for specimens from the state of New York.

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.

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