Molecular Diagnostic Test Menu

Specimen Requirements: 

† Indicates RNA-Based Assay

†† Indicates DNA-Based Assay

DNA-based assays

Peripheral Blood Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)

Bone Marrow Minimum 1 mL in EDTA (purple top) preferred or 1 mL in sodium heparin (green top)

Paraffin Sections Minimum of 5 sections at 3 microns each

Note: FFPE bone marrow biopsies can result in inadequate DNA decalcification (clots sections preferable).

FFPE for Dermatology-related specimens are not accepted.

FFPE is not an acceptable sample for NGS-based assays.

RNA-based assays

Peripheral Blood Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)

Bone Marrow Minimum 2 mL in EDTA (purple top) preferred or 2 mL in sodium heparin (green top)

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

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Test Clinical Application Methodology CPT Codes
B-cell IGH Gene Rearrangement†† Monoclonal rearrangement of IGH in B-cell neoplasms for diagnosis and monitoring. Dermatology samples not accepted. PCR 81261
B-cell 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† Hypermutations in variable (IGHV) region (IGHV) of IGH. Prognostic indicator in chronic lymphocytic leukemia (CLL) and hairy cell leukemia. Sanger Sequencing 81263
ABL1 TKD Mutation Analysis† Analyzes the patient-specific BCR::ABL1 fusion transcript sequence for the presence of imatinib resistance mutations in ABL1 kinase domain. Sanger Sequencing 81170
KMT2A::MLLT10(MLL::AF10)  t(10:11)† Detection and quantitative monitoring of t(10;11) in AML Real-Time Quantitative PCR 81479
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
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 81334
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 81401
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 81314
NPM1†† NPM1 exon-12 insert mutations in AML. PCR 81310
CEBPA†† CEBPA duplication or deletion mutations within the bZIP domain in AML. PCR 81218
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 81273, 81402
MYD88 L265P†† TAT: 3-7 days MYD88 L265P mutation in lymphoplasmacytic lymphoma. Cell sorter and Sanger Sequencing 81305, 88112
BRAF†† TAT: 3-7 days BRAF mutation detection in Hairy Cell Leukemia. Sanger Sequencing 81210
CD33 SNP†† Analysis of CD33 SNPs associated with expression levels of CD33 antigen.  STAT testing available on request. Sanger Sequencing 81479
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 qualitative monitoring of t(9;22) Real-Time Qualitative PCR 81206, 81207
NUP98::KDM5A t(11;12)† Detection and quantitative monitoring of t(11;12) in AML. Real-Time Quantitative PCR 81479
STAT3†† 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†† 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
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