Molecular Diagnostic Test Menu
* RNA-based assays = please provide minimum of 5 mL peripheral blood or 3 mL of bone marrow in lavender top tube [EDTA]. Overnight shipping and processing within 24 hours is required for accurate results.
+DNA-based assays = Fresh or paraffin-embedded specimens. FFPE bone marrow biopsies can result in inadequate DNA due to decalcification treatment [clot sections preferable]. Dermatology samples not accepted.
Molecular Studies Turn Around Times
DNA fragment analysis 24 – 72 hours
RQ-PCR 24 – 72 hours
Sanger sequencing 3 – 7 days
Next generation sequencing 7 – 10 days
Microarray 10 – 12 days
| Test | Clinical Application | Methodology | CPT Codes |
|---|---|---|---|
| IGH Gene Rearrangement+ | Monoclonal rearrangement of IGH in B-cell neoplasms for diagnosis and monitoring. Dermatology samples not accepted. | PCR | 81261 |
| IGK Gene Rearrangement+ | Monoclonal rearrangement of IGK in B-cell neoplasms for diagnosis and monitoring. | PCR | 81264 |
| TRG Gene Rearrangement+ | Monoclonal Rearrangement of T-cell-receptor Gamma chain gene in T-cell neoplasms for diagnosis and monitoring. | PCR | 81342 |
| TRB Gene Rearrangement+ | Monoclonal Rearrangement of T-cell-receptor beta chain in T-cell neoplasms for diagnosis and monitoring. | PCR | 81340 |
| IGHV Hypermutation*
TAT:3-7 days |
Hypermutations in variable (IGHV) region (IGHV) of IGH. Prognostic indicator in chronic lymphocytic leukemia (CLL) and hairy cell leukemia. | Sanger Sequencing | 81263 |
| ABL1 Sequence Analysis*
TAT:3-7 days |
Analyzes the patient-specific BCR::ABL1 fusion transcript sequence for the presence of imatinib resistance mutations in ABL1 kinase domain. | Sanger Sequencing | 81403 |
| KMT2A::MLLT10(MLL::AF10) t(10:11) | Detection and quantitative monitoring of t(10;11) in AML | Real-Time Quantitative PCR | 81479 |
| ALL RT-PCR Panel * | Detection of BCR::ABL1, TCF3::PBX1, KMT2A::AFF1 and ETV6::RUNX1. | Real-Time Quantitative PCR | 81206, 81207 |
| TCF3::PBX1 (E2A-PBX1) t(1;19)* | Minimal residual disease (MRD) detection of t(1;19) for ALL. | Real-Time Quantitative PCR | 81401 |
| KMT2A::AFF1 (MLL::AF4) t(4;11) * | MRD detection of t(4;11) and prognostic indicator for ALL. | Real-Time Quantitative PCR | 81401 |
| ETV6::RUNX1 (TEL::AML1) t(12;21) * | Detection and Quantitative monitoring of t(12;21) in ALL. | Real-Time Quantitative PCR | 81401 |
| BCR::ABL1 IS t(9;22) * | Detection and quantitative monitoring of t(9;22). | Real-Time Quantitative PCR | 81206, 81207 |
| AML RT-PCR Panel * | Detection of PML::RARA, RUNX1::RUNX1T1, and CBFB::MYH11. | Real-Time Quantitative PCR | 81315 81334 81401 |
| PML::RARA t(15;17) * | Detection and quantitative monitoring of t(15;17) in acute promyelocytic leukemia, STAT, same day analysis is available. | Real-Time Quantitative PCR | 81315 |
| RUNX1::RUNX1T1 (AML1::ETO) t(8;21) * | Detection and quantitative monitoring of t(8;21) in AML. | Real-Time Quantitative PCR | 81401 |
| CBFB::MYH11 inv(16) or t(16;16)* | Detection and quantitative monitoring of inv(16) or t(16;16) in AML. | Real-Time Quantitative PCR | 81401 |
| WT1* | Quantitative Detection of Wilm’s Tumor (WT1) transcript levels for monitoring MDS and AML. | Real-Time Quantitative PCR | 81479 |
| KMT2A::MLLT3 (MLL::AF9) t(9;11)* | Detection and quantitative monitoring of t(9;11) in AML. | Real-Time Quantitative PCR | 81479 |
| KMT2A::MLLT11 (MLL::AF1Q) t(1;11)* | Detection and quantitative monitoring of t(1;11) in AML. | Real-Time Quantitative PCR | 81479 |
| KMT2A::MLLT1 and KMT2A::ELL (MLL::ENL and MLL::ELL) t(11;19)* | Detection and quantitative monitoring of t( 11;19) in AML. | Real-Time Quantitative PCR | 81479 |
| NUP98::NSD1 t(5;11)* | Detection and quantitative monitoring of t(5;11) in AML. | Real-Time Quantitative PCR | 81479 |
| FIPIL1::PDGFRA del(4q12)* | Detection and monitoring of del(4q12) in neoplasms with eosinophilia. | Real-Time Quantitative PCR | 81401 |
| NPM1 + | NPM1 exon-12 insert mutations in AML. | PCR | 81310 |
| CEBPA+ | CEBPA duplication or deletion mutations within the bZIP domain in AML. | PCR | 81403 |
| JAK2 V617F+ | Detection and monitoring of JAK2 V617F in myeloid neoplasms. | PCR | 81270 |
| JAK2 Exon 12+ | Polycythemia vera that lacks JAK2 V617F. | PCR | 81279 |
| MPL+ | Essential thrombocythemia and primary myelofibrosis that lack JAK2 V617F. | PCR | 81337 |
| CALR+ | Essential thrombocythemia and primary myelofibrosis that lack JAK2 V617F. | PCR | 81219 |
| KIT D816V+ | Core-binding factor AML and mastocytosis. | PCR | 81402 |
| MYD88 L265P+
TAT: 3-7 days |
MYD88 L265P mutation in lymphoplasmacytic lymphoma. | Cell sorter and Sanger Sequencing | 81305 |
| CSF3R+
TAT: 3-7 days |
Chronic neutrophilic leukemia. | Sanger Sequencing | 81479 |
| BRAF +
TAT: 3-7 days |
BRAF mutation detection in Hairy Cell Leukemia. | Sanger Sequencing | 81210 |
| CD33 SNP+ TAT: 3-7 days |
Analysis of CD33 SNPs associated with expression levels of CD33 antigen. STAT testing available on request. | Sanger Sequencing | 81403 |
| SF3B1+ TAT: 3-7 days |
SF3B1 mutations associated with ring sideroblasts in MDS. | Sanger Sequencing | 81347 |
| KMT2A::AFDN (KMT2A::MLLT4) (MLL::AF6) t(6;11)* | Detection and quantitative monitoring of t(6;11) in AML. | Real-Time Quantitative PCR | 81479 |
| BCR::ABL1 t(9;22) Breakpoints Qualitative PCR* | Detection and quantitative monitoring of t(9;22) | Real-Time Quantitative PCR | 81206 & 81207 |
| NUP98::KDM5A t(11;12)* | Detection and quantitative monitoring of t(11;12) in AML. | Real-Time Quantitative PCR | 81479 |
| STAT3 +
TAT 3-7 days |
STAT3 mutations in large granular lymphocytic leukemia. | Sanger Sequencing | 81479 |
| CBFA2T3::GLIS2 inv(16)* | Detection and quantitative monitoring in AML with RAM immunophenotype. | Real-Time Quantitative PCR | 81479 |
| CXCR4 + TAT 3-7 days |
Resistance to ibrutinib due to mutations in CXCR4. | Sanger Sequencing | 81479 |
| IDH1 + | Mutations in IDH1 genes | Sanger Sequencing | 81120 |
| IDH2 + | Mutations in IDH2 genes | Sanger Sequencing | 81121 |
| NPM1::MLF1 t(3;5)* | Detection and quantitative monitoring of t(3;5) in AML. | Real-Time Quantitative PCR | 81479 |
| FLT3 + | FLT3 internal tandem duplications (ITD) and missense point mutation D835 (TKD) in AML. | PCR | 81245 |
| DEK::NUP214 t(6;9)* | Detection and monitoring of t(6;9) in AML and MDS. | Real-Time Quantitative PCR | 81401 |
| RBM15::MRTFA (RBM15::MKL1) t(1;22)* | Detection and monitoring of t(1;22) in AML. | Real-Time Quantitative PCR | 81479 |
| KATA6A::CREBBP t(8;16)* | Detection and quantitative monitoring of t(8;16) in AML. | Real-Time Quantitative PCR | 81479 |