Molecular Diagnostic Test Menu

Turn-Around-Time: 24 – 48 hrs Unless Otherwise Specified

* 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].

Test Clinical Application Methodology CPT Codes
B-cell Gene Rearrangement (IgH)+ Monoclonality detection and confirmation in B-cell malignancies. Monoclonality profiling for disease monitoring. PCR 81261
B-cell Gene Rearrangement (IgK)+ For 10 % of B-cell malignancies not detected by IgH assay (germinal and post-germinal center with somatic hypermutations). PCR 81264
T-cell (Gamma) Gene Rearrangement+ Monoclonality detection and confirmation in T-cell malignancies. Monoclonality profiling for disease monitoring. PCR 81342
T-cell (Beta) Gene Rearrangement+ For >10% of T-cell malignancies not detected by TCRG (Gamma) gene rearrangement analyis. PCR 81340
IGHV Mutation Analysis*

TAT:3-7 days

Determines mutation status of rearranged immunoglobulin heavy chain variable (IGHV) genes in patients with chronic lymphocytic leukemia (CLL) as well as a prognosticator in hairy cell leukemia. Sanger Sequencing 81263
ABL Sequence Analysis*

TAT:3-7 days

Analyzes the patient-specific BCR/ABL fusion transcript sequence for the presence of Gleevec resistance mutations in ABL kinase domain. Sanger Sequencing 81403
BCL-1 t(11;14)+ Quantitative monitoring of t(11;14) for Mantle Cell Lymphoma. Real-Time Quantitative PCR 81168
BCL-2 t(14;18)+ Quantitative monitoring of t(14;18) for Follicular Lymphoma. Real-Time Quantitative PCR 81278
ALL Panel * Detection of BCR-ABL, E2A-PBX1, MLL-AF4 and TEL-AML1 Real-Time Quantitative PCR 81206, 81207
E2A-PBX1 t(1;19)* Minimal residual disease (MRD) detection of t(1;19) for ALL. Real-Time Quantitative PCR 81401
MLL-AF4 t(4;11) * MRD detection of t(4;11) and prognostic indicator for ALL. Real-Time Quantitative PCR 81401
TEL-AML1 t(12;21) * MRD detection of t(12;21)and prognostic indicator for ALL. Real-Time Quantitative PCR 81401
BCR-ABL IS t(9;22) * Detection and quantitative monitoring [International Scale] of t(9;22) for CML and ALL. Real-Time Quantitative PCR 81206, 81207
AML Translocation Panel * Detection of PML-RARA, AML1-ETO and CBFB-MYH11 Real-Time Quantitative PCR 81315 81334 81401
PML-RARA t(15;17) * Detection and quantitative monitoring of t(15;17) for APL. STAT same day analysis available for diagnostic specimens. Real-Time Quantitative PCR 81315
AML 1-ETO t(8;21) * Detection and monitoring of t(8;21). Favorable prognosis in AML. Real-Time Quantitative PCR 81401
CBFB-MYH11 inv(16) * Detection and monitoring of inv(16). Favorable prognosis in AML. Real-Time Quantitative PCR 81401
WT1* Quantitative Detection of Wilm’s Tumor (WT1) transcript levels for monitoring in MDS and AML Real-Time Quantitative PCR 81479
MLL-AF9 t(9;11)* Detection and MRD monitoring in t(9;11) AML. Real-Time Quantitative PCR 81479
MLL-AF1 t(1;11)* Detection and MRD monitoring in t(1;11) AML. Real-Time Quantitative PCR 81479
MLL-ENL/ELL t(11;19)* Detection and MRD monitoring in t(11;19) AML. Real-Time Quantitative PCR 81479
NUP98-NSD1 t(5;11)* Prognosis and quantitative monitoring in AML. Real-Time Quantitative PCR 81479
FIPIL1-PDGFRA* Detection and monitoring of del(4q12) in HES (hypereosinophilic syndrome) and CEL (chronic eosinophilic leukemia). Real-Time Quantitative PCR 81401
NPM1 Mutation Analysis+ Detection of NPM1 (nucleophosmin) exon 12 insert mutations as prognostic indicator for AML. PCR 81310
CEBP Alpha Mutation Analysis+ Identifies CCAAT/enhancer-binding protein alpha (CEBPA) duplication or deletion mutations within the bZip domain as prognostic indicator for AML. PCR 81403
JAK2+ V617F JAK2 (Janus kinase 2) point mutation detection for diagnosis of myeloproliferative disorders. High detection sensitivity (0.1 %). Heterozygous versus Homozygous profile detection. PCR 81270
JAK2 Exon 12+ JAK2 V617F Negative myeloproliferaterative neoplasms (MPN) particularly in JAK2 negative polycythemia vera. PCR 81279
MPL+ JAK2 V617F Negative myeloproliferaterative neoplasms (MPN) particularly in essential thrombocythemia or PMF. PCR 81337
CALR+ Calreticulin exon 9 insertion/deletion mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF). PCR 81219
c-KIT D816V+ Detection of the D816V c-KIT point mutation as prognostic indicator for core binding factor (CBF) AML, mastocytosis, and systemic mast cell disease (SMCD). PCR 81402
MYD88 L265P+

TAT: 3-7 days

Detection of the MYD88 L265P mutation in lymphoplasmacytic lymphoma and Waldenstrom’s macroglobulinemia Cell sorter and Sanger Sequencing 81305
CSF3R+

TAT: 3-7 days

Colony-stimulating factor 3 receptor gene (CSF3R) mutation analysis for chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML). Sanger Sequencing 81479
BRAF (HCL) +

TAT: 3-7 days

BRAF V600E mutation detection in Hairy Cell Leukemia. Sanger Sequencing 81210
CD33+
TAT: 3-7 days
Determines response to Mylotarg™ therapy for AML. Sanger Sequencing 81403
SF3B1+
TAT: 3-7 days
Mutations may be associated with a favorable prognosis in MDS Sanger Sequencing 81347
MLL-AF6 t(6;11)* Detection and MRD monitoring in t(6;11) AML Real-Time Quantitative PCR 81479
BCR-ABL t(9;22) Breakpoints Qualitative PCR* Detection of MBcr and mbcr breakpoints in t(9;22) Real-Time Quantitative PCR 81206 & 81207
NUP98-KDM5At(11;12)* Detection and MRD monitoring of t(11;12)(p15;p13), poor prognosis in AML Real-Time Quantitative PCR 81479
STAT3 +

TAT 3-7 days

Detection of somatic mutations in Scr homology (SH2) domain of STAT3. A diagnostic tool for classifying some cases of large granular lymphocytosis Sanger Sequencing 81479
CBFA2T3-GLIS2* Detection and monitoring of the cryptic chromosome 16 inversion [inv(16)9p13.3q24.3)], associated with poor prognosis in AML. Real-Time Quantitative PCR 81479
CXCR4 +
TAT 3-7 days
Somatic frameshift and nonsense mutations in CXCR4 have been identified in a subset of patients with MYD88 L265P WM/LPL(27-35%). 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 MRD monitoring of t(3;5) which is associated with MDS Real-Time Quantitative PCR 81479
FLT3 + Detection of internal tandem duplications (ITD) in the juxtamembrane domain as well as the missense point mutation D835 in the activation loop of the tyrosine kinase domain (TKD). Prognostic implications in AML. PCR 81245
DEK/NUP214 t(6;9)* Detection and monitoring of t(6;9)(p22;q34). A rare (~1%) translocation in childhood AML and MDS, and associated with FLT3 in AML. Real-Time Quantitative PCR 81401
RBM15-MKL1 t(1;22)* Detection and monitoring of t(1;22) in acute megakaryoblastic leukemia (AMKL), a subset of AML. Real-Time Quantitative PCR 81479
KATA6A/CREBBP t(8;16)* Translocation t(8;16) (p11; p13) is recurring chromosomal abnormality that occurs in both de novo and treatment-related acute myeloid leukemia (t-AML). Real-Time Quantitative PCR 81479