Molecular Analysis

Molecular Diagnostic Test Menu

Part 1: Hematopathology

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

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
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 81401
BCL-2 t(14;18)+ Quantitative monitoring of t(14;18) for Follicular Lymphoma. Real-Time Quantitative PCR 81402
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, 81401×2
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
MLL-AF9 t(9;11)* Detection and MRD monitoring in t(9;11) AML. Real-Time Quantitative PCR
MLL-AF1 t(1;11)* Detection and MRD monitoring in t(1;11) AML. Real-Time Quantitative PCR
MLL-AF4 t(4;11)* Detection and MRD monitoring in t(4;11) AML. Real-Time Quantitative PCR
MLL-ENL/ELL t(11;19)* Detection and MRD monitoring in t(11;19) AML. Real-Time Quantitative PCR
NUP98-NSD1 t(5;11) Prognosis and quantitative monitoring in AML. Real-Time Quantitative PCR
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 81403
MPL+ JAK2 V617F Negative myeloproliferaterative neoplasms (MPN) particularly in essential thrombocythemia or PMF. PCR 81402
CALR Calreticulin exon 9 insertion/deletion mutations in essential thrombocythemia (ET) and primary myelofibrosis (PMF). PCR
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
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).
BRAF                      TAT: 3-7 days BRAF V600E mutation detection in Hairy Cell Leukemia.
CD33
TAT: 3-7 days
Determines response to Myelotarg therapy for AML. PCR 81403
SF3B1
TAT: 3-7 days
Mutations may be associated with a favorable prognosis in MDS PCR

* 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 h 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].

 

This is a unique website which will require a more modern browser to work!

Please upgrade today!