Search - Search by Methodology: Molecular

JAK2 V617F Mutation Analysis Qualitative detection of the V617F mutation. The rare mutation V617I is also detected. Testing is performed on plasma for increased sensitivity whenever possible. V617F testing may be ordered…

MPL Mutation Analysis Bi-directional sequencing of exon 10 of the MPL gene to detect all possible mutations at the W515 and S505 codons, and other mutations throughout the exon. Testing is performed on plasma for…

MPN Extended Reflex Panel Sequential testing panel including qualitative detection of JAK2 V617F, JAK2 Exon 12-14, CALR exon 9, and MPL exon 10. Testing proceeds by reflex through the four-step panel until a mutation is…

MPN Standard Reflex Panel Sequential testing panel including qualitative detection of JAK2 V617F, JAK2 Exon 12-14, and MPL exon 10. Testing proceeds by reflex through the three-step panel until a mutation is identified, when…

RHOA Mutation Analysis Bi-directional sequencing of the gene RHOA. The locked nucleic acid (LNA) technique is used to increase detection sensitivity for the G17V mutation. Note - Available as stand-alone or as part of the…

NeoTYPE® Head & Neck Tumor Profile The NeoTYPE Head & Neck Tumor Profile analyzes 30 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include…

HPV DNA Tissue Testing HPV DNA Tissue Testing is peformed on FFPE tissue. It uses PCR and fragment analysis for qualitative detection and genotyping of human papillomavirus (HPV) low risk types 6/11 and high risk types 16…

NeoTYPE® AML Prognostic Profile This test is performed by sequencing the entire coding regions of the genes listed. ASXL1, BCOR, BRAF, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2 including V617F and Exons 12+14,…

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).

inv(16), CBFB-MYH11 Translocation Real-time RT-PCR for quantitative detection of the inv(16) CBFB-MYH11 fusion transcript. Positive results are reported as ratio of the amount of fusion transcript with the amount of transcript from a…

NeoLAB™ MDS/CMML Profile - Liquid Biopsy This test is performed by the sequencing the entire coding regions of the genes listed using cell-free plasma DNA/RNA. ASXL1, BCOR, BCORL1, BRAF, CBL, CEBPA, CUX1, DNMT3A, ETV6, EZH2, FLT3, HRAS,…

TPMT Genotyping This PCR-based allele discrimination assay is performed on genomic DNA and detects the four most common abnormal alleles of the thiopurine methyltransferase (TPMT) gene, which are TPMT*2 (238G>C…

NeoTYPE® MPN Profile This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. ABL1, ASXL1, BRAF, CALR, CEBPA, CSF3R, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2 including…

CALR Mutation Analysis Bi-directional sequencing of exon 9 of the CALR (calreticulin) gene with fragment length analysis for enhanced detection of low levels of insertion/deletion mutations.Testing is approved for…

CSF3R Mutation Analysis Bi-directional sequencing of exons 14 and 17 of the CSF3R gene which includes detection of the common mutation T618I (also known as T595I).

JAK2 Exon 12-14 Mutation Analysis RT-PCR and bi-directional sequencing to detect non-V617F mutations in exons 12-14 and most of exon 15, corresponding to the majority of the JAK2 pseudokinase domain. Exon deletion mutations are…

NeoLAB™ AML Profile - Liquid Biopsy This test is performed by sequencing the entire coding regions of the genes listed using cell-free plasma DNA/RNA. ASXL1, BCOR, BRAF, CEBPA, CSF3R, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1, IDH2, JAK2…

NeoLAB™ IDH1 Mutation Analysis - Liquid Biopsy Bi-directional sequencing of the exon 4 mutation hotspot region in the IDH1 gene. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.

NeoLAB™ IDH2 Mutation Analysis - Liquid Biopsy Bi-directional sequencing of the exon 4 mutation hotspot region in the IDH2 gene. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.

NeoLAB™ inv(16), CBFB-MYH11 Translocation - Liquid Biopsy Real-time RT-PCR for quantitative detection of the inv(16) CBFB-MYH11 fusion transcript using cell-free plasma DNA/RNA. This assay identifies type A fusions, which account for >90%

NeoLAB™ KIT (c-KIT) Mutation Analysis - Liquid Biopsy Bi-directional sequencing of KIT exons 8, 9, 11, 13 and 17 for detection of activating mutations including the common mutation D816V. Testing is performed on cell-free plasma DNA/RNA to increase…

NeoLAB™ RUNX1-RUNX1T1 (AML1-ETO) Translocation, t(8;21) - Liquid Biopsy Real-time RT-PCR for quantitative detection of the t(8;21) RUNX1-RUNX1T1 fusion transcript (formerly called AML1-ETO) using cell-free plasma DNA/RNA.

RUNX1-RUNX1T1 (AML1-ETO) Translocation, t(8;21) Real-time RT-PCR for quantitative detection of the t(8;21) RUNX1-RUNX1T1 fusion transcript (formerly called AML1-ETO). Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Positive results…

WT1 Mutation Analysis Bi-directional sequencing of exons 7 and 9 is performed for detection of sequence variant mutations.  Fragment analysis of exon 7 is also performed for enhanced detection of heterozygous insertion/…

NPM1 MRD Analysis NPM1 MRD Analysis is performed by PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations. Testing is performed on plasma with a PCR modification to improve…

NeoTYPE® Breast Tumor Profile The NeoTYPE Breast Tumor Profile analyzes 28 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below. Test orders include summary interpretation of all…

NeoTYPE® Discovery Profile for Solid Tumors This profile analyzes 334 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include summary interpretation of…

NeoTYPE® JMML Profile This test is performed by sequencing the entire coding regions of the genes listed. BRAF, CBL, CEBPA, FLT3, HRAS, JAK2 including V617F and Exons 12+14, JAK3, KIT, KRAS, NPM1, NRAS, PDGFRA, PTEN,…

NeoTYPE® Liver/Biliary Tumor Profile The NeoTYPE Liver/Biliary Tumor Profile analyzes 29 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below.  Test orders include summary interpretation of…

NeoTYPE® Lymphoma Profile This test is performed by multiple methods to detect mutations in the following genes BCL1, BCL2, BCL6, BRAF, CARD11, CD79B, EZH2, MYD88, NOTCH1, NOTCH2, NRAS and TP53. The test is performed by…

NeoTYPE® MDS/CMML Profile This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. ASXL1, BCOR, BCORL1, BRAF, CBL, CEBPA, CUX1, DNMT3A, ETV6, EZH2, FLT3, HRAS, IDH1,…

NeoTYPE® Melanoma Profile The NeoTYPE Melanoma Tumor Profile analyzes 22 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include…

NeoTYPE® Myeloid Disorders Profile This test is performed by the sequencing the entire coding regions of the genes listed. ABL1, ASXL1, ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CBLB, CBLC, CDKN2A, CEBPA, CSF3R, CUX1, DNMT3A, ETV6, EZH2,…

NeoTYPE® Other Solid Tumor Profile This profile analyzes 29 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below. Test orders include summary interpretation of all results to help guide…

NeoTYPE® Brain Tumor Profile The NeoTYPE Brain Tumor Profile analyzes 48 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below.  Test orders include summary…

NeoTYPE® Precision Profile for Solid Tumors This Profile analyzes 51 biomarkers through a combination of next-generation sequencing (NGS) and IHC as listed below. Test orders include summary interpretation of all results to help guide…

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 35.

ABL1 Kinase Domain Mutation Analysis RT-PCR and sequencing of the BCR-ABL1 fusion transcript for qualitative detection of mutations associated with resistance to Gleevec (imatinib) and other tyrosine kinase inhibitors. Analysis includes…

EGFRvIII Analysis The EGFRvIII Analysis test is a real-time quantitative RT-PCR assay that is capable of detecting the EGFRvIII mutation that results from an inframe deletion of 801 base pairs spanning exons 2-7 of…

ASXL1 Mutation Analysis Bi-directional sequencing of the majority of exons 13 and 14 of ASXL1, corresponding to amino acids 406-1396.

B-Cell Gene Rearrangement Detection of clonal IgH gene rearragements by PCR of IgH framework regions 1, 2, 3 and joining regions. In addition, Ig Kappa gene rearrangement analysis is performed using specific oligonucleotides…

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…

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…

BCR-ABL1 Standard p210, p190 Real-time RT-PCR for quantitative 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…

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…

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…

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…

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…

BTK Inhibitor Acquired Resistance Panel Concurrent bi-directional sequencing of hotpost regions in the BTK and PLC-gamma-2 genes. Analysis includes the BTK mutation C481S and surrounding regions corresponding to amino acids C464 to M509…

BTK Inhibitor Primary Susceptibility Panel Concurrent analysis of the following by bi-directional sequencing: CARD11 exons 5 and 6, CD79B exon 5 including common Y196 mutations, CXCR4 C-terminus region, and MYD88 exon 5 including the L265P…

BTK Mutation Analysis Bi-directional sequencing to detect the C481S mutation in exon 15 and other potential mutations within the amino acid range C464 to M509. Testing is available separately or in combination with PLC-…

NeoTYPE® Cervical Tumor Profile The NeoTYPE Cervical Tumor Profile analyzes 27 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below. Test orders include summary interpretation of all…

CARD11 Mutation Analysis Bi-directional sequencing of exons 5 and 6 of the CARD11 gene. Testing is available separately or as part of the NeoTYPE™ Lymphoma Profile.

CBL Mutation Analysis Bi-directional sequencing of exons 8 and 9 of the CBL gene.

CD79B Mutation Analysis Bi-directional sequencing of exon 5 of the CD79B gene which includes detection of the common Y196 mutations. Testing is available separately or as part of the NeoTYPE™ Lymphoma Profile.

CEBPA Mutation Analysis Bi-directional sequencing of the relevant coding region and fragment analysis for detection of sequence variant and internal tandem duplication mutations. The SNP genotype at rs34529039 is reported.…

DNA Fingerprinting Analysis STR (short tandem repeat) analysis by PCR and capillary electrophoresis (fragment analysis) is used to define sample identity and to identify mixtures of two or more genotypes within a single sample…

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. 

CXCR4 Mutation Analysis Bi-directional sequencing to detect nonsense, frameshift, and other mutations encoding the C-terminus of CXCR4. Analyzed range includes detection of the C1013G mutation and spans amino acids L301 to…

DNMT3A Mutation Analysis Bi-directional sequencing of exon 26, a mutation hotspot region containing R882 and other mutations. In hematological disease, testing may be performed on plamsa to increase sensitivity. For solid…

EGFR Mutation Analysis Bi-directional sequencing of exons 18-21 of the EGFR gene for detection of EGFR-activating mutations and TKI resistance mutations (including T790M) in these exons. Tumor enrichment is performed…

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…

ETV6 Mutation Analysis Bi-directional sequencing of exons 2-7 of the ETV6 gene (formerly called TEL). This assay detects sequence variants rather than ETV6 translocations.

ETV6-RUNX1 (TEL-AML1) Translocation, t(12;21) Real-time RT-PCR for quantitative detection of the t(12;21) ETV6-RUNX1 fusion transcript (formerly called TEL-AML1). Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Positive results…

EZH2 Mutation Analysis Bi-directional sequencing of exons 3-13 and 15-18 of the EZH2 gene.

FLT3 Mutation Analysis Detection of internal tandem duplication and exon 20 tyrosine kinase domain (TKD) mutations using fragment-length analysis and bi-directional sequencing. Positive results identify specific TKD…

GNAS Mutation Analysis Bi-directional sequencing of exons 8 and 9 of the GNAS gene to detect mutation hot spots in codons R201 and Q227.

NeoTYPE® Colorectal Tumor Profile The NeoTYPE  Colorectal Tumor Profile analyzes 30 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below.  Test orders include…

HRAS Mutation Analysis Bi-directional sequencing of HRAS exons 2 and 3 which includes sites of common activating mutations in codons 12, 13, 59 and 61.

IDH1 & IDH2 Mutation Analysis Bi-directional sequencing of the exon 4 mutation hotspot regions in both the IDH1 and IDH2 genes. IDH1 and IDH2 are analyzed concurrently. In hematological disease, testing may be performed on plasma…

RAS/RAF Panel The RAS/RAF Panel is an NGS-based assay performed by sequencing the entire coding region (full gene) of BRAF, HRAS, KRAS and NRAS genes. The panel reports mutations detected in the full gene…

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.

NeoTYPE® Endometrial Tumor Profile The NeoTYPE Endometrial Tumor Profile analyzes 28 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include…

KIT (c-KIT) Mutation Analysis Bi-directional sequencing of KIT exons 8, 9, 11, 13 and 17 for detection of activating mutations including the common mutation D816V. For solid tumors, tumor enrichment is performed before extraction…

KRAS Exon 4 Mutation Analysis Bi-directional sequencing of exon 4 of the KRAS gene corresponding to amino acids  R97 through Q150.  Codon 117 and 146 mutations are detected. For solid tumors, tumor enrichment is performed before…

KRAS Mutation Analysis Bi-directional sequencing of exons 2 and 3 of the KRAS gene. High-sensitivity sequencing is used for enhanced detection of mutations in codons 12, 13, 59, and 61.  For solid tumors, tumor enrichment…

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…

MET (c-MET) Mutation Analysis Bi-directional Sanger sequencing of MET is performed using PCR primers designed to target hotspot mutations in exons 14, 16, 17 and 19.

MGMT Promoter Methylation Analysis Bisulfite modification of tumor DNA and real-time PCR are used to quantify CpG methylation within the MGMT gene promoter. Percentage of methylated DNA (compared to total DNA) is reported for positive…

NeoTYPE® Esophageal Tumor Profile The NeoTYPE Esophageal Tumor Profile analyzes 28 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below.  Test orders include…

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…

MLH1 Promoter Methylation Analysis This assay is performed on tumor tissue to detect hypermethylation of the MLH1 gene promoter. Bisulfite modification of tumor DNA and real-time PCR are used to quantify CpG methylation within the…

NeoTYPE® Gastric Tumor Profile The NeoTYPE Gastric Tumor Profile analyzes 28 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include summary…

Microsatellite Instability Analysis (MSI) PCR and fragment analysis of paired normal and tumor tissue to determine microsatellite instability (MSI) at the standard five NCI-recommended loci. Positive results are reported as MSI-high (at…

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…

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…

MYD88 Mutation Analysis Bi-directional sequencing of exon 5 of the MYD88 gene which includes detection of the common L265P mutation. Testing is approved for specimens from the state of New York.

NeoARRAY™ SNP/Cytogenetic Profile The NeoARRAY SNP/Cytogenetic Profile is available for hematological, solid tumor, and pregnancy loss indications. With the best genome-wide coverage available, this test employs an enhanced SNP…

NeoLAB™ BTK Inhibitor Acquired Resistance Panel - Liquid Biopsy The NeoLAB™ BTK Inhibitor Acquired Resistance Panel is a blood test performed by modified properietary bi-directional sequencing of the BTK and PLC-gamma-2 genes using cell-free circulating tumor DNA…

NeoLAB™ FLT3 Mutation Analysis - Liquid Biopsy Detection of internal tandem duplication and exon 20 tyrosine kinase domain (TKD) mutations using bidirectional sequencing. Positive results identify specific TKD mutations or report ITD results…

NeoLAB™ KRAS Mutation Analysis - Liquid Biopsy Bi-directional sequencing of exons 2 and 3 of the KRAS gene. High-sensitivity sequencing is used for enhanced detection of mutations in codons 12, 13, 59, and 61. Testing is performed on cell-free…

NeoLAB™ Myeloid Disorders Profile - Liquid Biopsy This test is performed on cell-free DNA/RNA in peripheral blood plasma by sequencing the entire coding regions of the genes listed. ABL1, ASXL1, ATRX, BCOR, BCORL1, BRAF, CALR, CBL, CBLB, CBLC,…

NeoLAB™ NPM1 Mutation Analysis - Liquid Biopsy PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations specific to AML. Positive results are reported quantitatively as percent abnormal DNA. Testing is performed…

NeoLAB™ NRAS Mutation Analysis - Liquid Biopsy Bi-directional sequencing of NRAS exons 2 and 3 which includes sites of common activating mutations in codons 12, 13, 59, and 61. Testing is performed on cell-free plasma DNA/RNA to increase…

NeoLAB™ PML-RARA Translocation, t(15;17) - Liquid Biopsy Real-time RT-PCR for quantitative detection of the t(15;17) PML-RARA fusion transcript using cell-free plasma DNA/RNA. Both long and short isoforms of the fusion transcript are detected.

NeoTYPE® Lung Tumor Profile The NeoTYPE Lung Tumor Profile analyzes 30 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below.  Test orders include summary…

ALK Mutation Analysis Bi-directional Sanger sequencing of ALK is performed using PCR primers designed to target hotspot mutations in exons 23 and 25.

NGS Comprehensive Sarcoma Fusion Profile The NGS Comprehensive Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect 134 different translocations relevant in sarcomas in the genes ALK, CAMTA1, CCNB3, CIC,…

NGS Ewing Sarcoma Fusion Profile The NGS Ewing Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations relevant in Ewing's sarcoma in the gene EWSR1.

NGS Non-Ewing Sarcoma Fusion Profile The NGS Non-Ewing Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations unrelated to Ewing's sarcoma in the genes ALK, CAMTA1, CCNB3, CIC, EPC1…

NGS Pediatric Sarcoma Fusion Profile The NGS Pediatric Sarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to pediatric sarcomas in the genes ALK, EWSR1, FUS, GLI1, NTRK3…

NGS Rhabdomyosarcoma Fusion Profile The NGS Rhabdomyosarcoma Fusion Profile is a targeted next-generation sequencing panel that can detect various translocations related to rhabdomyosarcoma in the genes FOXO1, NCOA2, and TFE3.

NTRK & RET NGS Fusion Profile The NTRK & RET NGS Fusion Profile is an RNA-based next-generation sequencing panel that detects translocations and fusions of the genes NTRK1, NTRK2, NTRK3 and RET with known and novel fusion…

NOTCH1 Mutation Analysis Bi-directional sequencing of exons 26, 27, and 34 is performed for detection of sequence variant mutations. Testing can be performed on plasma when adequate leukemic cells are not available.

NPM1 Mutation Analysis PCR and fragment analysis of exon 12 of the NPM1 gene to detect small insertion mutations specific to AML. Positive results are reported quantitatively as percent abnormal DNA. Testing may be…

NRAS Mutation Analysis Bi-directional sequencing of NRAS exons 2 and 3 which includes sites of common activating mutations in codons 12, 13, 59, and 61. Testing is approved for specimens from the state of New York.

PDGFRa Mutation Analysis Bi-directional sequencing of exons 12 and 18 of the PDGFRA (platelet-derived growth factor alpha) gene. These exons are mutation hotspots that account for the majority of PDGFRA mutations detected in…

PIK3CA LDT Mutation Analysis by Sequencing Bi-directional sequencing of PIK3CA exons 1, 9, and 20 which are the most commonly-mutated regions of the gene.

PLC-Gamma-2 Mutation Analysis Bi-directional sequencing to detect mutations in exons 19, 20, and 24, covering amino acid ranges W646 to S679, A681 to M743, and I839 to V860. Testing is available separately or in combination with…

PML-RARA Translocation, t(15;17) Real-time RT-PCR for quantitative detection of the t(15;17) PML-RARA fusion transcript. Both long and short isoforms of the fusion transcript are detected. Positive results identify the isoform and…

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…

PTEN Mutation Analysis Bi-directional sequencing of all exons (1-9) of the PTEN gene. For solid tumors, enrichment is performed before extraction. This assay does not detect large deletions.

PTPN11 Mutation Analysis Bi-directional sequencing of exons 2-4 of PTPN11.

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…

RUNX1 Mutation Analysis Bi-directional sequencing of exons 4-10 of the RUNX1 gene

MET Exon 14 Deletion Analysis MET Exon 14 Deletion Analysis is performed by real-time RT-PCR. The assay is designed to detect alternative splice junctions that lead to exon-skipping (deletion) of exon 14 of the gene MET. Note:…

SETBP1 Mutation Analysis Bi-directional sequencing of the SETBP1 exon 4 mutation hotspot (covering amino acids 823-941). The locked nucleic acid (LNA) technique is used to increase detection sensitivity for mutations at D868…

SF3B1 Mutation Analysis RT-PCR and bi-directional sequencing of exons 14-17 of the SF3B1 gene. More than 90% of reported mutations are detected in these exons. This test detects mutations present at 10-15% or more in a wild…

SRSF2 Mutation Analysis Bi-directional sequencing of the mutation hotspot region in exon 1 of the SRSF2 gene corresponding to amino acids 57-120.

STAT3 Mutation Analysis Bi-directional sequencing of STAT3 exons 13-21 encompassing the DNA binding and SH2 domains.

T-Cell Receptor Beta Gene Rearrangement This test provides qualitative detection of monoclonal T-cell receptor (TCR) beta gene rearrangements by PCR and fragment analysis according to BIOMED-2 consensus primer design. This test may be…

T-Cell Receptor Gamma Gene Rearrangement Detection of clonal T-cell receptor gamma (TCRG) gene rearrangements by PCR of variable and joining regions. T-Cell Receptor Beta Gene Rearrangement is offered separately and may be added to this…

TET2 Mutation Analysis Bi-directional sequencing of the entire coding sequence of the TET2 transcript variant A (2002 amino acids in length).

TP53 Mutation Analysis Bi-directional sequencing of TP53 exons 4-9.

U2AF1 Mutation Analysis Bi-directional sequencing of exons 2 and 7 of the U2AF1 gene (also called U2AF35).

UGT1A1 Genotyping Lengths of the TA repeat polymorphism in the promoter region of the UTG1A1 gene are determined by fragment analysis using capillary electrophoresis. The alleles detected include the common normal…

ZRSR2 Mutation Analysis Bi-directional sequencing of exons 5 and 7-11 of the ZRSR2 gene.

NeoTYPE Liposarcoma Fusion Profile The NeoTYPE Liposarcoma Fusion Profile combines next-generation sequencing to detect translocations in the genes EWSR1, FUS, HMGA2, and PLAG1 with FISH testing for MDM2 to detect amplifications…

Oncomine™ Dx Target Test The Oncomine Dx Target Test is a next-gen sequencing assay designed to detect variants in 23 genes associated with non-small cell lung cancer (NSCLC). Abnormalities targeted are ROS1 gene fusions and…

NeoTYPE® Ovarian Tumor Profile The NeoTYPE Ovarian Tumor Profile analyzes 29 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include summary…

BCR-ABL1 Non-Standard p230 Real-time RT-PCR for detection of t(9;22) BCR-ABL1 fusion transcripts that result in p230 fusion proteins. Analytical sensitivity is 1 tumor cell in 100,000 normal cells. BCR-ABL1 Standard p210, p190…

TERT Promoter Mutation Analysis Bi-directional Sanger sequencing is performed using PCR primers designed to target mutations in the promoter region of TERT.

NeoTYPE® Pancreas Tumor Profile The NeoTYPE Pancreas Tumor Profile analyzes 31 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include…

IgH Clonality/MRD by NGS The IgH Clonality/MRD by NGS assay detects clonal populations of B-lymphocytes in a given patient sample through the analysis of the VDJ segment of the immunoglobulin heavy chain (IgH) gene. *Note -…

NeoTYPE AITL/Peripheral T-Cell Lymphoma Profile The NeoTYPE AITL/Peripheral T-Cell Lymphoma Profile is performed by the sequencing of select exons in the genes IDH1, IDH2, DNMT3A, TET2 and RHOA

NRAS Exon 4 Mutation Analysis Bi-directional sequencing of NRAS exon 4 is performed using PCR primers designed to target hotspot mutations in codons 117 and 146, among other regions in exon 4. Testing is available separately or…

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…

Androgen Receptor Mutation Analysis Bi-directional Sanger sequencing of the gene Androgen Receptor is performed using PCR primers designed to target hotspot mutations in exons 4, 5 and 8.

HSD3B1 Genotyping Bi-directional Sanger sequencing is performed to detect the HSD3B1 (1245A>C) single nucleotide polymorphism (SNP). Inheritance of the HSD3B1 (1245C) allele, which enhances dihydrotestosterone…

NeoTYPE® GI Predictive Profile The NeoTYPE GI Predictive Profile analyzes 9 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below.  Test orders include summary…

NeoTYPE® Thyroid Profile The NeoTYPE® Thyroid Tumor Profile analyzes 21 biomarkers through a combination of next-generation sequencing (NGS), other molecular methods, FISH, and IHC as listed below. Test orders include…

PPM1D Mutation Analysis PPM1D (Protein Phosphatase, Mg2+/Mn2+ Dependent 1D) Mutation Analysis is performed by next-generation sequencing (NGS) of all coding regions of the PPM1D gene. Germline and somatic mutation testing…

NeoTYPE® CLL Prognostic Profile This test is performed by the sequencing the entire coding regions of the genes MYD88, NOTCH1, SF3B1, and TP53 plus IgVH Mutation Analysis and the CLL FISH Panel as noted. Test orders include summary…

IgVH Mutation Analysis RT-PCR and bi-directional sequencing of the variable region of the immunoglobulin heavy chain for detection of mutation from germline sequence. The mutated VH gene family is identified in positive…

CancerTYPE ID® with reflex to NeoTYPE® Cancer Profile CancerTYPE ID is a proprietary molecular cancer classifier used to identify unknown or unclear tumor types and subtypes in patients with metastatic cancer. When ordered through NeoGenomics,…

NTRK NGS Fusion Profile The NTRK NGS Fusion Profile is an RNA-based next-generation sequencing panel that detects translocations and fusions of the Neurotrophic Tropomyosin-Related Kinase (NTRK) genes NTRK1, NTRK2, and…

Lung NGS Fusion Profile The Lung NGS Fusion Profile is an RNA-based next-generation sequencing panel that detects translocations and fusions of the genes ALK, NTRK1, NTRK2, NTRK3, RET and ROS1 with known and novel fusion…

ALL Fusion Profile Detection of gene fusion transcripts in Acute Lymphoblastic Leukemia (ALL) from ribonucleic acid (RNA). RNA is isolated from bone marrow aspirates or peripheral blood and the cDNA sequence of…

PIK3CA CDx Mutation Analysis by PCR PIK3CA CDx Mutation Analysis by PCR is an FDA-approved qualitative companion diagnostic assay performed on DNA extracted from FFPE breast tissue to detect 11 mutations in exons 7, 9, and 20 of the…

FGFR CDx Molecular Analysis FGFR CDx Molecular Analysis is a qualitative RT-PCR assay, FDA-approved for detection of four point mutations in the FGFR3 gene (p.R248C, p.S249C, p.G370C and p.Y373C) and two FGFR3 fusions (FGFR3:…

NeoTYPE® GIST and Soft Tissue Tumor Profile The NeoTYPE® GIST/Soft Tissue Tumor Profile analyzes 35 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below. Test orders include summary interpretation…

BRCA1/2 Mutation Analysis for Tumors BRCA1 and BRCA2 mutation analysis is performed by next-generation sequencing of all coding exons of the BRCA1 and BRCA2 genes to detect point mutations and small insertions/deletions. This test does…