Displaying 1 - 156 of 156 tests
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 detection of the common T315I mutation.

Molecular
ALK Mutation Analysis

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

Molecular
AML Reflex PanelRoutine 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
Androgen Receptor Mutation AnalysisBi-directional Sanger sequencing of the gene Androgen Receptor is performed using PCR primers designed to target hotspot mutations in exons 4, 5 and 8. 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 35.

Molecular
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 recognizing the Vk, intragenic and Jk regions. Testing is approved for specimens from the state of New York.

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 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 may be ordered as a stand-alone test.

Molecular
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 atypical variant). p230 testing may be ordered as a stand-alone test. For p210 and p190, analytical sensitivity is 1 tumor cell in 100,000 normal cells, log reduction score and percent abnormal are reported, and longitudinal data will appear as a NeoTRACK Result on the report. For p230, results are reported as percent abnormal. Testing is New York 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. Expanded coverage for BRAF exons 11 & 15 is available in the RAS/RAF Panel. Testing is available separately or in combination with HRAS, KRAS, and NRAS in the RAS/RAF Panel. Testing is approved for specimens from the state of New York. 

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.

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 mutations, small insertions/deletions, and large deletions/duplications. Tests for BRCA1 or BRCA2 may be ordered separately. 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.

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 insertions/deletions, and large deletions/duplications. This test maybe ordered separately or in combination with BRCA1. 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.

Molecular
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 and the following PLC-gamma-2 mutations and surrounding regions: R665W (W646 to S679), S707 (A681 to M743), and L845F (I839 to V860).

Molecular
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 mutation.

Molecular
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-gamma-2 in the BTK Inhibitor Acquired Resistance Panel. NeoGenomics recommends ordering the combination Panel.

Molecular
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 specimens from the state of New York. Read more about the CALR Mutation Analysis.

Molecular
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, classification with CancerTYPE ID is followed by tumor profiling for actionable biomarkers using the NeoTYPE® Cancer Profile most appropriate for the tumor type identified by Cancer TYPE ID. Tech-only options for FISH and IHC within the NeoTYPE Cancer Profile are available.

CancerTYPE ID is performed and billed separately by NeoGenomics’ contracted reference laboratory, Biotheranostics, Inc., an independent CLIA-licensed and CAP-accredited reference laboratory. The test uses quantitative RT-PCR to measure the expression of 92 genes in the patient’s specimen and classifies the tumor by matching the gene expression profile to a database of more than 2000 known tumor types and subtypes. Using this technology, CancerTYPE ID can identify 50 different tumor types and subtypes, covering >95% of all solid tumors based on incidence.1 The test reports a main cancer type with the highest probability, as well as a list of tumor types that may be ruled out with 95% confidence. 

CancerTYPE ID may be ordered as a stand-alone test directly from Biotheranostics, Inc. Please see www.cancertypeid.com.   

Molecular
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.

Molecular
CBL Mutation Analysis

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

Molecular
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.

Molecular
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. Testing is performed on plasma for increased sensitivity whenever possible.

Molecular
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).

Molecular
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 S352. Testing is available separately or in combination with three other contributory genes in the BTK Inhibitor Primary Susceptibility Panel.

Molecular
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. Fifteen autosomal markers and one gender-based marker are analyzed. 

Molecular
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 tumors, tumor enrichment is performed before extraction.

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

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 for Hereditary Cancer Genetic Testing form are required. Testing will be put on hold until signatures are received.

Molecular
EGFRvIII Analysis

The EGFRvIII Analysis test is a real-time 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 the coding sequence. 

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 insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.

Molecular
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.

Molecular
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 are reported as a percentage ratio between quantities of transcript of t(12;21) and the sum of t(12;21) plus a control gene.

Molecular
EZH2 Mutation Analysis

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

Molecular
FLT3 Mutation Analysis

Detection of internal tandem duplication and exon 20 tyrosine kinase domain (TKD) mutations using bi-directional sequencing. Positive results identify specific TKD mutations or report ITD results quantitatively as percent abnormal ITD peak. Testing may be performed on plasma to increase sensitivity.

Molecular
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.

Molecular
Hereditary Cancer Comprehensive Panel

Next-gen sequencing of all coding regions and intron-exon boundaries is performed concurrently for the following 73 genes: AKT1, APC, ATM, ATR, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CEBPA, CHEK1, CHEK2, CTNNA1, EPCAM, ETV6, FAM175A, GALNT12, GATA2, GEN1, GREM1, HOXB13, KLLN, MEN1, MLH1, MRE11A, MSH2, MSH6, MUTYH, MYH1, MYH2, MYH3, MYH4, MYH6, MYH7, MYH8, MYH9, MYH10, MYH11, MYH13, MYH14, MYH15, NBN, NTRK1, PALB2, PIK3CA, PMS2, POLD1, POLE, PPM1D, PRSS1, PTEN, RAD50, RAD51, RAD51C, RAD51D, RET, RUNX1, SDHB, SDHC, SDHD, SMAD4, STK11, TERC, TERT, TP53, TP53BP1, VHL, WT1, and XRCC2. 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.

Molecular
Hereditary Cancer Susceptibility for Pediatrics

The Hereditary Cancer Susceptibility for Pediatrics panel is a sequencing based assay that can detect mutations in the entire coding region of the following genes listed. ALK, APC, BRCA1, BRCA2, CDH1, KRAS, MSH2, MSH6, NF1, NF2, NRAS, PALB2, PMS2, PTCH1, RB1, RET, RUNX1, SDHA, SDHB, TP53, and VHL. Note: Parent 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.

Molecular
Hereditary DNA Repair Panel for Prostate Cancer

The Hereditary DNA Repair Panel for Prostate Cancer is a sequencing based assay that can detect mutations in the entire coding region of the following genes listed. ATM, ATR, BAP1, BARD1, BRCA1, BRCA2, BRIP1, CHEK2, FAM175A, GEN1, MLH1, MRE11A, MSH2, MSH6, NBN, PALB2, PMS2, RAD51C, RAD51D, and XRCC2. 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.

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 mutation and other variants of significance to prostate cancer risk. 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.

Molecular
HPV DNA Tissue TestingHPV 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, 18, 31, 33, 45, and 58. When detected, specific genotypes are identified except for 6 and 11 which cannot be distinguished from each other and are reported as positive for the combination 6/11. Molecular
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.

Molecular
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 synthesis, is associated with prostate cancer resistance to androgen deprivation therapy (ADT).

Molecular
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 to increase sensitivity. For solid tumors, tumor enrichment is performed before extraction.

Molecular
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 - Baseline testing of the original primary sample will need to be performed prior to testing on new samples submitted for monitoring of minimal residual disease.

Molecular
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 reports (>3% sequence deviation). Mutation may not be detectable in specimens containing <10% clonal B-cells.

Molecular
Inherited Bone Marrow Failure Panel

The Inherited Bone Marrow Failure Panel consists of next-gen sequencing of all coding regions of the following 58 genes, shown grouped by categories of gene function or primary associated disease. 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. Fanconi Anemia: BRCA2 (FANCD1), BRIP1 (FANCJ), ERCC4 (FANCQ), FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, PALB2 (FANCN), RAD51C (FANCO), SLX4 (FANCP), XRCC2. Ribosome diseases: RPL5, RPL11, RPL15, RPL26, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, RPS26. Telomere diseases: ACD (TPP1), CTC1, DKC1, NHP2 (NOLA2), NOP10 (NOLA3), POT1, RTEL1, TERC, TERF1 (TRF1), TERF2 (TRF2), TERF2IP (RAP1), TERT, TERT Promoter, TINF2, WRAP53. Acute myeloid leukemia (AML): CEBPA, DDX41, ETV6, RUNX1, SRP72. Severe congenital neutropenia (SCN): CSF3R, ELANE, G6PC3, GFI1, HAX1, WAS. Others: GATA1, GATA2, MPL, SBDS, THPO.

Molecular
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 normal control gene. This assay identifies type A fusions, which account for >90%. Analytical sensitivity is 1 tumor cell in 100,000 normal cells.

Molecular
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 detectable. Testing is performed on plasma for increased sensitivity whenever possible. V617F analysis is recommended before or concurrently with this test. Exon 12-14 Mutation Analysis may be ordered separately, with concurrent V617F testing, by reflex after negative V617F testing, or as part of the MPN Reflex Panel. Testing is approved for specimens from the state of New York.

Molecular
JAK2 V617F Mutation Analysis

Detects 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 separately, concurrently with full exon 12-14 sequencing, with reflex to exon 12-14 sequencing, or as part of the MPN Reflex Panel. Testing is approved for specimens from the state of New York.

Molecular
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. In hematological disease, testing may be performed on plasma to increase sensitivity.

Molecular
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 extraction.  This test may be ordered separately or by reflex after standard KRAS Mutation Analysis. Testing is available separately or in combination with BRAF, HRAS and NRAS in the RAS/RAF Panel. Testing is approved for specimens from the state of New York.

Molecular
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 is performed before extraction. Testing is available separately or in combination with BRAF, HRAS and NRAS in the RAS/RAF Panel. Testing is approved for specimens from the state of New York.  

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 detect point mutations, small insertions/deletions, and large deletions/duplications. Testing may be ordered for individual genes. 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.

Molecular
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.

Molecular
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: Available as stand-alone test or as part of the NeoTYPE® Lung Tumor Profile.

Molecular
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 results.

Molecular
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 least two markers are unstable) or MSI-low (one marker is unstable).

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 insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.

Molecular
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 promoter. Percentage of methylated DNA (compared to total DNA) is reported for positive results. Analysis should be considered in combination with IHC, BRAF, and/or MSI.

Molecular
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 increased sensitivity whenever possible. This test may be ordered separately or as part of the MPN Reflex Panel.

Molecular
MPN Extended Reflex Panel

Sequential testing panel including analysis 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 identified, when the result is considered informative and no further testing is performed. Testing is performed on plasma for increased sensitivity whenever possible. Tests may also be ordered individually or as a three-step reflex panel without CALR in the MPN Standard Reflex Panel (see separate listing). Testing is approved for specimens from the state of New York. 

Molecular
MPN Standard Reflex Panel

Sequential testing panel including analysis 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 the result is considered informative and no further testing is performed. Testing is performed on plasma for increased sensitivity whenever possible. Tests may also be ordered separately. For reflex testing including CALR mutation analysis, please see the separate listing for MPN Extended Reflex Panel. Testing is approved for specimens from the state of New York. 

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 insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.

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 insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.

Molecular
MYD88 Mutation Analysis

Bi-directional sequencing of exon 5 of the MYD88 gene which includes detection of the common L265P mutation.

Molecular
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 microarray with over 2.6 million SNP and non-polymorphic markers for detection of copy number variants (deletions, duplications, and amplifications) and loss of heterozygosity or uniparental disomy (LOH or UPD) in any chromosome. Sensitivity and specificity for detection of copy number variants >400 kb is >99%. Testing may not reliably detect abnormalities present in less than 20% of the cells tested. Balanced rearrangements, including translocations and inversions, are not detectable by this method. Clients may request NeoARRAY on POC as the sole test, or they may order POC cytogenetics with reflex to NeoARRAY if the POC culture fails or if cytogenetic results are normal. For reflex orders, if there is no cell attachment or growth after 14 days in culture, a cytogenetics failure report will be issued and NeoARRAY will be performed. If there is limited cell attachment after 14 days in culture, NeoGenomics will contact the client for instructions. When array testing is not performed, a fee will be charged for DNA extraction (which is performed upon specimen receipt).

Molecular
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 V617F, JAK2 Exon 12+14, KIT, KMT2A (MLL), KRAS, NPM1, NRAS, PDGFRA, PHF6, PTPN11, RUNX1, SETBP1, STAG2, TET2, TP53 and WT1. Test orders include summary interpretation of all results together. For patients with therapy-related AML, AML that evolved from MDS, and AML with myelodysplasia, we recommend instead the NeoLAB™ MDS/CMML Profile- Liquid Biopsy.

Molecular
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 (ctDNA). This method allows detection of mutations with sensitivity of 10(-4). Analysis includes the BTK mutation C481S and surrounding regions corresponding to amino acids C464 to M509 and the following PLC-gamma-2 mutations and surrounding regions: R665W (W646 to S679), S707 (A681 to M743), and L845F (I839 to V860).

Molecular
NeoLAB™ EGFR T790M - Liquid Biopsy

The NeoLAB EGFR T790M - Liquid Biopsy test is a sequencing based assay that can detect the EGFR T790M mutation in plasma with high sensitivity (0.1%) using cell-free circulating tumor DNA (cfDNA).

Molecular
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 quantitatively as percent abnormal ITD peak. Testing is performed on cell-free plasma DNA/RNA to increase sensitivity.

Molecular
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.

Molecular
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.

Molecular
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%

Molecular
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 sensitivity.

Molecular
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 plasma DNA/RNA to increase sensitivity. Note - NeoLAB™ KRAS Mutation Analysis- Liquid Biopsy will only be performed for hematological diseases at this time.

Molecular
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, IDH1, IDH2, JAK2 V617F, JAK2 Exon 12+14, KIT, KRAS, NPM1, NRAS, PDGFRA, PTEN, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, and ZRSR2. Test orders include summary interpretation of all results together.

Molecular
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, CDKN2A, CEBPA, CSF3R, CUX1, DNMT3A, ETV6, EZH2, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, IKZF1, JAK2, JAK3, KDM6A, KIT, KMT2A (MLL), KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2. Test orders include summary interpretation of all results together.

Molecular
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 on cell-free plasma DNA/RNA to increase sensitivity.

Molecular
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 sensitivity. Note - NeoLAB™ NRAS Mutation Analysis- Liquid Biopsy will only be performed for hematological diseases at this time.

Molecular
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.

Molecular
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.

Molecular
NeoLAB™ Solid Tumor Monitor - Liquid Biopsy

The NeoLAB™ Solid Tumor Monitor is a blood test that uses cell-free circulating tumor DNA (ctDNA) or RNA in combination with next-generation sequencing (NGS) to detect mutations in the following 48 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, and VHL. The EGFR T790 mutation is tested at high sensitivity (10^-4). Test orders include summary interpretation of all results together. NOTE: One-time baseline molecular testing at NeoGenomics on the solid tumor is required. Please see details in Specimen Requirements.

Molecular
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

Molecular
NeoTYPE AML Favorable-Risk Profile

This test is performed by sequencing of select exons of the genes FLT3 and KIT. Test orders include summary interpretation of all results together. Individual genes from a validated list of myeloid genes can be added-on.

Molecular
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, KIT, KMT2A (MLL), KRAS, NPM1, NRAS, PDGFRA, PHF6, PTPN11, RUNX1, SETBP1, STAG2, TET2, TP53 and WT1. FLT3 is performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together. The AML Prognostic Profile may also be ordered as reflex after intermediate cytogenetics in the AML Reflex Panel (see separate AML Reflex Panel listing). For patients with therapy-related AML, AML that evolved from MDS, and AML with myelodysplasia, we recommend instead the NeoTYPE MDS/CMML Profile.

Molecular
NeoTYPE Brain Tumor Profile

This test is performed by sequencing of the entire coding regions of the genes listed unless another method is noted. AKT1, ATRX, BRAF, CDK6, CDKN2A, CIC, CTNNB1, EGFR, EGFRvIII Analysis, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, FUBP1, H3F3A, HRAS, IDH1, IDH2, KRAS, MET, MGMT Promoter Methylation Analysis, MYC, MYCN, NF1, NF2, NRAS, PIK3CA, PTCH1, PTEN, RB1, SETD2, SMAD4, SMO, SRC, TERT Promoter, TP53, 1p/19q Deletion FISH, BRAF FISH, MET FISH, MYCN FISH, PDGFRA FISH, PTEN FISH, and PD-L1 IHC. EGFRvIII Analysis and MGMT Promoter Methylation Analysis are performed by Real-Time PCR (RT-PCR). TERT Promoter is performed by bi-directional Sanger sequencing. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as “Tech-Only” by pathology clients who wish to perform the professional component.
For more information, please visit our NeoTYPE Brain Tumor Profile page

Molecular
NeoTYPE Breast Tumor Profile

This test is performed by sequencing of the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, KIT, KRAS, MET, NRAS, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, HER2 FISH, MET FISH, PTEN FISH and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component. Note - Samples with equivocal HER2 FISH results will be reflexed to the Equivocal Breast FISH Panel. BRCA1/2 testing will be performed unless opted out.

Molecular
NeoTYPE Cervical Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KRAS, MET, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
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 interpretation of all results together. Individual genes from a validated list of genes can be added-on. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Colorectal Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, APC, BRAF, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KIT, KRAS, MET, Microsatellite Instability (MSI), MLH1 Promoter Methylation, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis and MLH1 Promoter Methylation is performed by Real-Time PCR. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Discovery Profile for Solid Tumors

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. ABL1, ABL2, ACVR1B, AKT1, AKT2, AKT3, ALK, AMER1 (FAM123B), APC, AR, ARAF, ARFRP1, ARID1A, ARID1B, ARID2, ASXL1, ATM, ATR, ATRX, AURKA, AURKB, AXIN1, AXL, BAP1, BARD1, BCL2, BCL2L1, BCL2L2, BCL6, BCOR, BCORL1, BLM, BRAF, BRCA1, BRCA2, BRD4, BRIP1, BTG1, BTK, C11orf30, CARD11, CBFB, CBL, CCND1, CCND2, CCND3, CCNE1, CD274, CD79A, CD79B, CDC73, CDH1, CDK12, CDK4, CDK6, CDK8, CDKN1A, CDKN1B, CDKN2A, CDKN2B, CDKN2C, CEBPA, CHD2, CHD4, CHEK1, CHEK2, CIC, CREBBP, CRKL, CRLF2, CSF1R, CTCF, CTNNA1, CTNNB1, CUL3, CYLD, DAXX, DDR2, DICER1, DNMT3A, DOT1L, EGFR, EP300, EPHA3, EPHA5, EPHA7, EPHB1, ERBB2, ERBB3, ERBB4, ERG, ERRF11, ESR1, EZH2, FAM46C, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, FAS, FAT1, FBXW7, FGF10, FGF14, FGF19, FGF23, FGF3, FGF4, FGF6, FGFR1, FGFR2, FGFR3, FGFR4, FH, FLCN, FLT1, FLT3, FLT4, FOXL2, FOXP1, FRS2, FUBP1, GABRA6, GATA1, GATA2, GATA3, GATA4, GATA6, GID4 (C17orf39), GLI1, GNA11, GNA13, GNAQ, GNAS, GPR124, GRIN2A, GRM3, GSK3B, H3F3A, HGF, HNF1A, HRAS, HSD3B1, HSP90AA1, IDH1, IDH2, IGF1R, IGF2, IKBKE, IKZF1, IL7R, INHBA, INPP4B, IRF2, IRF4, IRS2, JAK1, JAK2, JAK3, JUN, KAT6A (MYST3), KDM5A, KDM5C, KDM6A, KDR, KEAP1, KEL, KIT, KLHL6, KMT2A (MLL), KMT2C (MLL3), KMT2D (MLL2), KRAS, LMO1, LRP1B, LYN, LZTR1, MAGI2, MAP2K1 (MEK1) , MAP2K2 (MEK2) , MAP2K4 (MEK4), MAP3K1 (MEKK) , MCL1, MDM2, MDM4, MED12, MEF2B, MEN1, MET, MITF, MLH1, MPL, MRE11A, MSH2, MSH6, MTOR, MUTYH, MYC, MYCL (MYCL1), MYCN, MYD88, NBN, NF1, NF2, NFE2L2, NFKBIA, NKX2-1, NOTCH1, NOTCH2, NOTCH3, NPM1, NRAS, NSD1, NTRK1, NTRK2, NTRK3, NUP93, PAK3, PALB2, PARK2, PAX5, PBRM1, PDCD1LG2, PDGFRA, PDGFRB, PDK1, PIK3C2B, PIK3CA, PIK3CB, PIK3CG, PIK3R1, PIK3R2, PLCG2, PMS2, POLD1, POLE, PPP2R1A, PRDM1, PREX2, PRKAR1A, PRKCI, PRKDC, PRSS8, PTCH1, PTEN, PTPN11, QKI, RAC1, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RAD54L, RAF1, RANBP2, RARA, RB1, RBM10, RET, RICTOR, RNF43, ROS1, RPTOR, RUNX1, RUNX1T1, SDHA, SDHB, SDHC, SDHD, SETD2, SF3B1, SLIT2, SMAD2, SMAD3, SMAD4, SMARCA4, SMARCB1, SMO, SNCAIP, SOCS1, SOX10, SOX2, SOX9, SPEN, SPOP, SPTA1, SRC, STAG2, STAT3, STAT4, STK11, SUFU, SYK, TAF1, TBX3, TERC, TERT, TET2, TGFBR2, TNFAIP3, TNFRSF14, TOP1, TOP2A, TP53, TSC1, TSC2, TSHR, U2AF1, VEGFA, VHL, WISP3, WT1, XPO1, ZBTB2, ZNF217, ZNF703, ALK FISH, BRAF FISH, HER2 FISH, MET FISH, c-MYC FISH, PDGFRA Amplification FISH, PTEN FISH, RET FISH, ROS1 FISH and PD-L1 IHC. Tumor Mutation Burden (TMB) testing is performed with all Discovery Profiles. Test orders include summary interpretation of all results together.

Molecular
NeoTYPE Endometrial Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, EGFR, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KIT, KRAS, MET, Microsatellite Instability (MSI), NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Esophageal Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, CTNNB1, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KIT, KRAS, MET, Microsatellite Instability (MSI). NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, HER2 FISH, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Gastric Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KIT, KRAS, MET, Microsatellite Instability (MSI), NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, HER2 FISH, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE GI Predictive Profile

This test is performed by sequencing of select exons of the genes listed unless another method is noted: BRAF, HRAS, KRAS, Microsatellite Instability Analysis (MSI), NRAS, HER2 FISH, PD-L1 IHC. MSI is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE GIST Profile

This test is performed by the sequencing of select exons of the genes listed. AKT1, BRAF, CTNNB1, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, KIT, PDGFRA, SRC and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of solid tumor genes can be added. Test orders include summary interpretation of all results together.

Molecular
NeoTYPE Head & Neck Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, ATM, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, IDH1, IDH2, KRAS, MET, NOTCH1, NRAS, PIK3CA, PTEN, RB, SMO, SRC, TP53, MET FISH, PTEN FISH, PD-L1 IHC and HPV DNA Tissue Testing which is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
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, PTPN11, and SETBP1. FLT3 is performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together.

Molecular
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 relevant in liposarcoma. FISH components of NeoTYPE Profiles may be ordered as “Tech-Only” by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Liver/Biliary Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, ATM, BRAF, CDKN2A, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, IDH1, IDH2, KRAS, MET, NOTCH1, NRAS, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Lung Tumor Profile

The NeoTYPE Lung Tumor Profile is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, KIT, KRAS, MET, MET Exon 14 Deletion Analysis, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, ALK FISH, HER2 FISH, MET FISH, PTEN FISH, RET FISH, ROS1 FISH and PD-L1 IHC. MET Exon 14 Deletion Analysis is performed by Real-Time PCR. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Lymphoma Profile

This test is performed by multiple methods to detect mutations in the following genes BCL1, BCL2, BRAF, CARD11, CD79B, EZH2, MYD88 and NRAS. The test is performed by sequencing the entire coding regions of the genes listed unless otherwise noted. BCL1/ IgH translocation t(11;14) is performed by real-time PCR and BCL2  t(14;18) is performed by fragment length analysis. Test orders include summary interpretation of all results together.

Molecular
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, IDH2, JAK2 including V617F and Exons 12+14, KIT, KRAS, NPM1, NRAS, PDGFRA, PTEN, PTPN11, RUNX1, SETBP1, SF3B1, SRSF2, STAG2, TET2, TP53, U2AF1, and ZRSR2. FLT3 is performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together.

Molecular
NeoTYPE Melanoma Profile

This test is performed by sequencing the entire coding regions of the genes listed. AKT1, BRAF, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, GNA11, GNAQ, KIT, NRAS, PDGFRA, PTEN, SMO, SRC, TERT Promoter, PTEN FISH and PD-L1 IHC. TERT Promoter is performed by bi-directional Sanger sequencing. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together.

Molecular
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 V617F and Exons 12+14, KIT, KRAS, MPL, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SRSF2, TET2, and U2AF1. CALR and FLT3 are performed by multiple methods. Individual genes from a validated list of myeloid genes can be added-on. Test orders include summary interpretation of all results together.

Molecular
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, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, IKZF1, JAK2 including V617F and Exons 12+14, JAK3, KDM6A, KIT, KRAS, MLL, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PHF6, PTEN, PTPN11, RAD21, RUNX1, SETBP1, SF3B1, SMC1A, SMC3, SRSF2, STAG2, TET2, TP53, U2AF1, WT1, ZRSR2. CALR and FLT3 are performed by multiple methods. Test orders include summary interpretation of all results together.

Molecular
NeoTYPE Other Solid Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, EGFR, FGFR1, FGFR2, FGFR3, GNAS, HRAS, IDH1, IDH2, JAK3, KIT, KRAS, MET, NOTCH1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH, and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE Ovarian Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, BRCA1, BRCA2, CTNNB1, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, JAK3, KRAS, MET, NRAS, Microsatellite Instability (MSI), PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis.  Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component. BRCA1/2 testing will be performed unless opted out.

Molecular
NeoTYPE Pancreas Tumor Profile

The Pancreas Tumor Profile is an NGS-based assay performed by sequencing the entire coding regions of the genes listed unless other method is noted. ARID1A, BRAF, BRCA1, BRCA2, CDKN2A, EGFR, ERBB2, ERBB4, FGFR1, FGFR2, FGFR3, HRAS, KIT, KRAS, MET, Microsatellite Instability (MSI), NOTCH1, NRAS, PBRM1, PIK3CA, PTEN, SMAD4, SMO, TP53, VHL, HER2 FISH, MET FISH, PTEN FISH and PD-L1 IHC. MSI is performed by fragment analysis. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component. BRCA1/2 testing will be performed unless opted out.

Molecular
NeoTYPE Precision Profile for Solid Tumors

The NeoTYPE Precision Profile for Solid Tumors utilizes next-generation sequencing to detect mutations in the following 48 genes: ABL1, AKT1, ALK, APC, ATM, BRAF, CDH1, CDKN2A, CSF1R, CTNNB1, EGFR, ERBB2, ERBB4, FBXW7, FGFR1, FGFR2, FGFR3, FLT3, GNA11, GNAQ, GNAS, HNF1A, HRAS, IDH1, JAK2, JAK3, KDR, KIT, KRAS, MET, MLH1, MPL, NOTCH1, NPM1, NRAS, PDGFRA, PIK3CA, PTEN, PTPN11, RB1, RET, SMAD4, SMARCB1, SMO, SRC, STK11, TP53, VHL and PD-L1 IHC. This test is performed by sequencing the enitre coding regions of the genes listed unless another method is noted. Tumor Mutation Burden testing can be added. Test orders include summary interpretation of all results together.

Molecular
NeoTYPE Thyroid Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, ALK, BRAF, CTNNB1, ERBB2, ERBB4, HRAS, KRAS, MET, NRAS, PIK3CA, RET, SMAD4, SMO, SRC, TERT Promoter, MET FISH, RET FISH, PD-L1 IHC. TERT Promoter is performed by bi-directional sanger sequencing. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NeoTYPE® Soft Tissue Tumor Profile

This test is performed by sequencing the entire coding regions of the genes listed unless another method is noted. AKT1, BRAF, FGFR1, FGFR2, FGFR3, GNAS, HRAS, JAK3, KIT, KRAS, MET, NRAS, PDGFRA, PIK3CA, PTEN, SMAD4, SMO, SRC, TP53, MET FISH, PTEN FISH and PD-L1 IHC. Tumor Mutation Burden (TMB) testing and individual genes from a validated list of genes can be added. Test orders include summary interpretation of all results together. FISH components of NeoTYPE Profiles may be ordered as "Tech-Only" by pathology clients who wish to perform the professional component.

Molecular
NGS ALK, NTRK, RET, ROS1 Fusion Profile

The NGS ALK, NTRK, RET, ROS1 Fusion Profile is a targeted next-generation sequencing panel that detects significant translocations in the genes ALK (fusions of exons 19-22), NTRK1 (fusions of exons 8 and 10-13), NTRK3 (fusions of exons 13-16), RET (fusions of exons 8-13) and ROS1 (fusions of exons 31-37) simultaneously. Some of the more common translocations detected include EML4-ALK, KIF5B-ALK, NPM1-ALK, TPM3-ALK, CD74-NTRK1, MPRIP-NTRK1, ETV6-NTRK3, CCD6-RET (aka RET-PTC1), ERC1-RET, HOOK3-RET, KIF5B-RET, NCOA4-RET (aka RET-PTC3), PCM1-RET, TRIM33-RET, CD74-ROS1, SLC34A2-ROS1 and TPM3-ROS1. This test detects rearrangements common in lung carcinoma, colorectal carcinoma, inflammatory myofibroblastic tumor, anaplastic large cell lymphoma as well as other tumors. ALK1 and ROS1 gene rearrangements are found in 3-5% and 1-2% of non-small cell lung carcinomas (NSCLC), respectively, and determine likelihood of response to crizotinib (Xalkori®) therapy. RET translocations detected in this test are common in papillary thyroid carcinoma and are also seen in 1-2% of NSCLC. In early clinical studies, patients with RET rearranged NSCLC show response to multi-kinase inhibitors. NTRK1 rearrangements are frequent in papillary thyroid carcinoma and reported in a small subset of patients with NSCLC; early clinical studies suggest response to tyrosine kinase inhibitors. We recommend FISH as the primary method of ALK, RET, and/or ROS1 rearrangement detection. We suggest using this test for NTRK analysis and/or cases that fail to provide conclusive FISH results.

Molecular
NGS ALK, RET, ROS1 Fusion Profile

The NGS ALK, RET, ROS1 Fusion Profile is a targeted next-generation sequencing panel that detects significant translocations in the genes ALK (fusions of exons 19-22), RET (fusions of exons 8-13) and ROS1 (fusions of exons 31-37) simultaneously. In addition, mutations related to crizotinib resistance can also be detected in the genes ALK and RET. Some of the more common translocations detected include EML4-ALK, KIF5B-ALK, NPM1-ALK, TPM3-ALK, CCD6-RET (aka RET-PTC1), ERC1-RET, HOOK3-RET, KIF5B-RET, NCOA4-RET (aka RET-PTC3), PCM1-RET, TRIM33-RET, CD74-ROS1, SLC34A2-ROS1 and TPM3-ROS1. This test detects rearrangements common in lung carcinoma, colorectal carcinoma, inflammatory myofibroblastic tumor, anaplastic large cell lymphoma as well as other tumors. ALK1 and ROS1 gene rearrangements are found in 3-5% and 1-2% of non-small cell lung carcinomas (NSCLC), respectively, and determine likelihood of response to crizotinib (Xalkori®) therapy. RET translocations detected in this test are common in papillary thyroid carcinoma and are also seen in 1-2% of NSCLC. In early clinical studies, patients with RET rearranged NSCLC show response to multi-kinase inhibitors. We recommend FISH as the primary method of ALK, RET, and ROS1 rearrangement detection and suggest this test be used in cases that fail to provide conclusive FISH results.

Molecular
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, EPC1, EWSR1, FOXO1, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, ROS1, SS18, STAT6, TAF15, TCF12, TFE3, TFG, USP6, and YWHAE.

Molecular
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.

Molecular
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, FOXO1, FUS, GLI1, HMGA2, JAZF1, MEAF6, MKL2, NCOA2, NTRK3, PDGFB, PLAG1, STAT6, TAF15, TCF12, TFE3, TFG, USP6, and YWHAE.

Molecular
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, FLI1, NTRK3, and USP6.

Molecular
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.

Molecular
NGS Thyroid Fusion Profile

The NGS Thyroid Fusion Profile is a targeted next-generation sequencing panel that detects significant translocations in the genes NTRK1 (fusions of exons 8 and 10-13), NTRK3 (fusions of exons 13-16), and RET (fusions of exons 8-13) simultaneously. Some of the more common translocations detected include CD74-NTRK1, MPRIP-NTRK1, ETV6-NTRK3, CCD6-RET (aka RET-PTC1), ERC1-RET, HOOK3-RET, KIF5B-RET, NCOA4-RET (aka RET-PTC3), PCM1-RET, and TRIM33-RET. This test detects rearrangements common in lung and thyroid cancer as well as other tumors. RET translocations detected in this test are common in papillary thyroid carcinoma and are also seen in 1-2% of NSCLC. NTRK1 rearrangements are frequent in papillary thyroid carcinoma and reported in a small subset of patients with NSCLC. Early clinical studies suggest that tumors with NTRK1/3 rearrangements respond to tyrosine kinase inhibitors. We suggest using this test for NTRK and RET analysis and/or cases that fail to provide conclusive FISH results.

Molecular
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.

Molecular
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 sensitivity. The lower limit of detection of mutated NPM1 in this assay is 5 x 10^-3 (0.5%). Positive results are reported quantitatively if the percentage of mutated DNA is ≥1%, and they are reported qualitatively if ˂1%.    

Molecular
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 performed on plasma to increase sensitivity.

Molecular
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 in combination with BRAF, KRAS and HRAS in the RAS/RAF Panel. Testing is approved for specimens from the state of New York.

Molecular
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.

Molecular
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 367 sequence variant "hotspot" mutations in the following genes: AKT1, ALK, BRAF, CDK4, DDR2, EGFR, ERBB2, ERBB3, FGFR2, FGFR3, HRAS, KIT, KRAS, MAP2K1 (aka MEK1), MAP2K2 (aka MEK2), MET, MTOR, NRAS, PDGFRA, PIK3CA, RAF1, RET, and ROS1.
NOTE: Not yet available for samples from New York.

Molecular
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 gastrointestinal stromal tumors (GISTs) including the common TKI-resistance mutation D842V. Solid tumor enrichment is performed before extraction.

Molecular
PIK3CA Mutation Analysis

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

Molecular
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 the BTK Inhibitor Acquired Resistance Panel. NeoGenomics recommends ordering the combination Panel.

Molecular
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 quantify it as a ratio with the amount of transcript from a normal control gene. Analytical sensitivity is 1 tumor cell in 100,000 normal cells.

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 insertions/deletions, and large deletions/duplications. Testing is also available in the Lynch Syndrome panel which includes EPCAM, MLH1, MSH2, MSH6, and PMS2. 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.

Molecular
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 is available. Note: For germline testing (blood sample), 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.

Molecular
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.

Molecular
PTPN11 Mutation Analysis

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

Molecular
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 including mutations in the most common hotspots, if present. The common hotspots include KRAS (exons 2-4, including codons 12, 13, 59, 61, 117, and 146), NRAS (exons 2-4, including codons 12, 13, 59, 61, 117, and 146), HRAS (exons 2-3, including codons 12, 13, 59, and 61), and BRAF (exons 11, 15 including codon V600).

Molecular
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 AITL/Peripheral T-Cell Lymphoma Profile.

Molecular
RUNX1 Mutation Analysis

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

Molecular
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 are reported as a ratio between quantities of (8;21) transcript and a normal control gene.

Molecular
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, G870, I871, and D880.

Molecular
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-type background.

Molecular
SRSF2 Mutation Analysis

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

Molecular
STAT3 Mutation Analysis

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

Molecular
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 ordered concurrently with or after negative results in our T-Cell Receptor Gamma Gene Rearrangement assay for gamma gene rearrangements to improve TCR rearrangement detection by ~5% in T-cell leukemias/lymphomas. 

Molecular
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 gamma gene test.

Molecular
TERT Promoter Mutation AnalysisBi-directional Sanger sequencing is performed using PCR primers designed to target mutations in the promoter region of TERT. Molecular
TET2 Mutation Analysis

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

Molecular
TP53 Mutation Analysis

Bi-directional sequencing of TP53 exons 4-9.

Molecular
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), TPMT*3A (460G>A + 719A>G), TPMT*3B (460G>A), and TPMT*3C (719A>G). The status of the abnormal alleles tested is reported as not detected, heterozygous, or homozygous. The TPMT enzyme activity associated with the genotype is reported as normal, intermediate, or low or no activity. The abnormal alleles tested in this assay account for >95% cases of low or undetectable TPMT enzyme activity.

Molecular
Tumor Mutation Burden

Tumor Mutation Burden (TMB) testing at NeoGenomics measures the number of non-synonymous DNA coding sequence changes per megabase of sequenced DNA. Testing is performed routinely within the NeoTYPE™ Discovery Profile, can be added to any of the NeoTYPE Solid Tumor Profiles, and is available as a stand-alone test. Results are reported as low, high intermediate, and high upper quartile in reference to the median genomic TMB value determined across a wide variety of tumor types in an internal validation study. TMB is also called tumor mutational burden or tumor mutation load (TML). 

Molecular
U2AF1 Mutation Analysis

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

Molecular
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 allele *1 (with 6 TA repeats) and the common abnormal allele *28 (7 repeats). The patient's genotype is reported along with the associated high, intermediate, or low risk for toxicity from the drug irinotecan (Camptosar®).

Molecular
Universal Fusion/Expression Profile

The Universal Fusion/Expression Profile is a targeted RNA sequencing panel that utilizes next-generation sequencing (NGS) to detect all relevant fusion transcripts in 1,385 genes associated with hematologic or solid tumor cancers. It is especially useful for testing patients with rare diseases. Learn more about the Universal Fusion/Expression Profile. See the full 1,385 gene list here.

Molecular
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/deletion mutations. The SNP genotype at rs16754 is reported.  Testing is performed on plasma for increased sensitivity whenever possible.    

Molecular
ZRSR2 Mutation Analysis

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

Molecular