*Click test name for more information including; Specimen Requirements, Storage and Transport, Specimen Rejection Criteria, Turn around Time and CPT codes.

Test Name Methodology Test Description Specimen Requirements Storage and Transport Specimen Rejection Criteria Turn Around Time (TAT) CPT Codes*
Harmony Non-Invasive Prenatal Testing (NIPT) Molecular Genetics

The Harmony Prenatal Test® measures the relative proportion of chromosomes to aid in the assessment of fetal trisomies 21, 18, and 13. Harmony® performs a directed analysis of cell-free DNA (cfDNA) in maternal blood and incorporates the fetal fraction of cfDNA in test results. Test results also incorporate maternal age (or egg donor age) and gestational age related probability based on information provided on the test requisition form.

Whole blood specimens.
Acceptable specimen collection/transport containers are:
•Proprietary K3EDTA Cell-Free DNA collection tube - 8.5 ml nominal liquid capacity - minimum volume 1 mL

Specimens are to be shipped with a gel pack at 15° C - 30° C. Specimens are be stored at 18° C -25° C. Viability after transfer to collection/transfer tube is 5 days. Shelf life for the Harmony kit is 18 months.

Click here to reference the specimen rejection criteria.

5-10 Days

81507

PIK3CA Mutation Analysis Molecular Genetics

The PIK3CA Mutation Analysis assay uses next-generation sequencing (NGS) technology to provide an assessment of the PIK3CA gene in select regions of exons 10 and 21 in human genomic DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7-10 Days

81404

PDGFRa Mutation Analysis  Molecular Genetics

The PDGFRA Mutation Analysis assay uses next-generation sequencing (NGS) technology to provide an assessment of the PDGFRA gene for the detection of genetic alterations within select regions of exons 12, 14, and 18 in human genomic DNA isolated from formalin-fixed, paraffin-embedded (FFPE) tissue.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7-10 Days

81314

NRAS Mutation Analysis Molecular Genetics

The NRAS Mutation Analysis assay uses next-generation sequencing (NGS) technology to provide an assessment of the NRAS gene for the detection of genetic alterations within select regions of exons 2, 3, and 4 in human genomic DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7-10 Days

81311

KIT Mutation Analysis (FFPE Solid Tumor) Molecular Genetics

The KIT Mutation Analysis (Solid Tumor FFPE) assay uses next-generation sequencing (NGS) technology to provide an assessment of the KIT gene for the detection of genetic alterations with select regions of exons 8, 9, 10 11, 13, 14, 17, and 18 in human genomic DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7-10 Days

81272

KIT Mutation Analysis (Bone marrow and peripheral blood) Molecular Genetics

The KIT Mutation Analysis (Blood and Bone Marrow) assay uses targeted next-generation sequencing (NGS) technology to analyze relevant genomic DNA that has been isolated from bone marrow and peripheral blood for mutations in exons 2, 8-11, 13, and 17 of the KIT gene to aid in the diagnosis and prognosis of patients with suspected melanoma or gastric cancer.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

7-10 Days

81272

JAK2 Exons 12 &14 Mutation Analysis Molecular Genetics

The JAK2 Exon 12 & 14 Mutation Analysis assay uses next-generation sequencing (NGS) technology to provide an assessment of the JAK2 gene for the detection of mutations within select regions of exons 12 and 14 in DNA extracted from whole blood and bone marrow with known involvement in myeloproliferative neoplasms (MPN).

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

7-10 Days

81270, 81403

EGFR Mutation Analysis  Molecular Genetics

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7-10 Days

81235

BRAF Mutation Analysis (Blood and Bone Marrow) Molecular Genetics

The BRAF Mutation Analysis (Blood and Bone Marrow) assay uses next-generation sequencing (NGS) technology to provide an assessment of the BRAF gene for the detection of genetic alterations within exon 15 to aid in the diagnosis and prognosis of patients with Hairy Cell Leukemia.

Click here to reference the specimen rejection criteria.

BRAF Mutation Analysis (Solid Tumor) Molecular Genetics

The BRAF Mutation Analysis (Solid Tumor FFPE) assay test uses next-generation sequencing (NGS) technology to provide an assessment of the BRAF gene for the detection of genetic alterations within select regions of exon 15.

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.

Click here to reference the specimen rejection criteria.

7-10 Days

81210

KRAS Mutation Analysis (NGS) Molecular Genetics

The KRAS Mutation Analysis (Solid Tumor FFPE) assay uses next-generation sequencing (NGS) technology to provide an assessment of the KRAS gene for the detection of genetic alterations within select regions of exons 2, 3, and 4 in human genomic DNA isolated from formalin-fixed paraffin-embedded (FFPE) tissue. 

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

24 hours

7-10 Days

Targeted Solid Tumor Sequencing Panel Molecular Genetics

The Targeted Solid Tumor Sequencing Panel utilizes the Illumina TruSight Tumor 15 (TST15) assay which is a targeted cancer gene panel dedicated to detecting variants by covering the implicated coding regions of 15 genes associated with solid tumors. TST15 uses next-generation sequencing (NGS) technology to provide a comprehensive assessment of the most commonly mutated genes in 7 cancer types (Lung, Melanoma, Breast, Colon, Ovarian, Gastric, and Prostate). It detects low-frequency variants down to a 5% minor allele frequency (MAF) and requires only 20 ng of DNA isolated from FFPE tumor tissue. TST15 allows for parallel sequencing of multiple cancer-related genes without the need to perform several sequential tests.

FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack during transport of paraffin blocks and unstained slides. Cold pack should not be placed in direct contact with the specimen during shipping.

Click here to reference the specimen rejection criteria.

24 hours

81445

CLL Prognostic Sequencing Panel Molecular Genetics

The CLL Prognostic Sequencing Panel uses NGS technology to provide an assessment of 4 genes (MYD88, SF3B1, TP53, NOTCH1) in one assay. The panel targets mutations with known involvement in the prognosis of patients diagnosed with chronic lymphocytic leukemia (CLL).

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

7-10 Days

81404, 81479(x3)

Comprehensive Myeloid Sequencing Panel Molecular Genetics

The TruSight Myeloid Sequencing Panel uses next-generation sequencing (NGS) technology to provide a comprehensive assessment of 54 genes (tumor suppressor genes and oncogenic hotspots) to target mutations with known involvement in acute myeloid leukemia (AML), myelodysplastic syndrome (MDS), myeloproliferative neoplasms (MPN), chronic myelogenous leukemia (CML), chronic myelomonocytic leukemia (CMML), and juvenile myelomonocytic leukemia (JMML).

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

7-10 Days

81455

Respiratory Pathogen Panel (RPP) Molecular Genetics

Multiplexed nucleic acid test intended for the simultaneous qualitative detection and identification of mulitple viral and bacterial nucleic acids in nasopharyngeal swab specimens from individuals with signs and symptons of upper respiratory tract infection.

Nasopharyngeal Swab collected and transported in Viral Transport Media

Nasopharyngeal swab specimens should be collected and transported in Viral Transport Media. Specimens should refrigerated until shipping. Use cold packs and ship in insulated foam container. Specimens must be maintained at 2-8 degrees C.

Click here to reference the specimen rejection criteria.

3 Days

87633, 87798, 87486, 87581

xTAG GPP Molecular Genetics

Multiplexed nucleic acid test intended for the simultaneous qualitative detection and identification of mulitple viral, parasitic, and bacterial nucleic acids in human stool specimens from individuals with signs and symptons of infectious colitis or gastroenteritis.

Human Stool

Stool specimens should be collected as soon after onset of symptons as possible. Fresh stool specimens should be placed in provided collection xTAG GPP colelction tube.

Click here to reference the specimen rejection criteria.

3 Days

87493, 87798, 87502, 87505, 87506, 87507

T-Cell Gene Rearrangement  Molecular Genetics

Detection of clonal T-cell receptor gamma gene rearrangements by PCR of variable and joining regions.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fresh tissue: Two pieces minimum, 0.2 cm3 in RPMI.

Refrigerate fresh tissue until shipping. For all specimens, use cold pack for transport. Make sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81342

PML-RARA Translocation, t(15;17) Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

5-7 Days

81315

PDGFRa Mutation Analysis  Molecular Genetics

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.

FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.

Click here to reference the specimen rejection criteria.

7 Days

81404

NPM1 Mutation Analysis  Molecular Genetics

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.  

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81310

MPN Extended Reflex Panel   Molecular Genetics

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). 

•Peripheral blood: 4 mL in EDTA tube. •Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

10 Days

81270, 81402, 81403, 81479

MPL Mutation Analysis  Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

7 Days

81402

Microsatellite Instability Analysis (MSI) Molecular Genetics

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).

•Note: An additional patient sample from normal, non-tumor tissue is required for comparison testing in MSI Analysis. Please submit all specimens with one test requisition form.
•Specimen requirements for normal tissue in order of preference are: 1) 5 mL peripheral blood in EDTA tube OR 2) FFPE tissue slides or block containing only non-tumor tissue. Please label these as ""normal tissue"". OR 3) In cases where no alternative tissue is available, we can attempt to isolate non-tumor tissue from the tumor specimen submitted. Note “Use tumor sample for normal tissue” on requisition. See requirements below.
•Specimen requirements for tumor tissue: FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81301

KRAS Mutation Analysis  Molecular Genetics

Bi-directional sequencing of exons 2 and 3 of the KRAS gene, which includes detection of mutations in codons 12, 13, 59, and 61.  Tumor enrichment is performed before extraction. 

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fine needle aspirate (FNA): Requisition must note specimen is FNA. Fresh cells in suspension, unstained air-dried smears (approx. 6-8 slides), or FFPE cell blocks are acceptable if pathologist attaches note verifying sample has >30% tumor or abnormal cells (required). Minimum 10^6 cells.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81275

KRAS Exon 4 Mutation Analysis  Molecular Genetics

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. 

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fine needle aspirate (FNA): Requisition must note specimen is FNA. Fresh cells in suspension, unstained air-dried smears (approx. 6-8 slides), or FFPE cell blocks are acceptable if pathologist attaches note verifying sample has >30% tumor or abnormal cells (required). Minimum 10^6 cells.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81479

KRAS & BRAF Mutation Analysis  Molecular Genetics

Concurrent analysis of KRAS and BRAF gene regions including KRAS exons 2 and 3 (with mutation detection in codons 12, 13, 59, and 61) and BRAF exon 15 to detect V600 mutations and more. Tumor enrichment is performed before extraction.

FFPE solid tumor tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.

Use cold pack for transporting block during summer to prevent block from melting. Slides can be packed at room temperature.

Click here to reference the specimen rejection criteria.

7 Days

81210, 81275

JAK2 V617F Mutation Analysis  Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

5 Days

JAK2 V617F Only: 81270 JAK2 V617F and EXON 12-14 run concurrently or by reflex:  81270, 81403

JAK2 Exon 12-14 Mutation Analysis   Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

5 Days

JAK2 Exon 12-14 Only: 81403 JAK2 V617F and EXON 12-14 run concurrently or by reflex:  81270, 81403

IgVH Mutation Analysis  Molecular Genetics

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.  

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

10 Days

81263

FLT3 Mutation Analysis  Molecular Genetics

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.  

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81245, 81246

EGFR Mutation Analysis  Molecular Genetics

Bi-directional sequencing of exons 18-21 of the EGFR gene for detection of EGFR-activating mutations and TKI resistance mutations in these exons. Tumor enrichment is performed before extraction. 

•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fine needle aspirate (FNA): Requisition must note specimen is FNA. Fresh cells in suspension, unstained air-dried smears (approx. 6-8 slides), or FFPE cell blocks are acceptable if pathologist attaches note verifying sample has >30% tumor or abnormal cells (required). Minimum 10^6 cells.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81235

c-KIT (KIT) Mutation Analysis Molecular Genetics

Bi-directional sequencing of KIT exons 8, 9, 11, 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.  

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fixed cytogenetic cell pellet: Send all available cells suspended in fixative.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Slides can be packed at room temperature.  

Click here to reference the specimen rejection criteria.

7 Days

81404

CEBPA Mutation Analysis  Molecular Genetics

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.  

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81403

CBL Mutation Analysis  Molecular Genetics

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

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81479

CALR Mutation Analysis Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

5-7 Days

81479

BRAF Mutation Analysis  Molecular Genetics

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.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fine needle aspirate (FNA): Requisition must note specimen is FNA. Fresh cells in suspension, unstained air-dried smears (approx. 6-8 slides), or FFPE cell blocks are acceptable if pathologist attaches note verifying sample has >30% tumor or abnormal cells (required). Minimum 10^6 cells.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. All slides can be packed at room temperature

Click here to reference the specimen rejection criteria.

7 Days

81210

BCR-ABL1 Translocation, t(9;22) – quantitative  Molecular Genetics

Real-time RT-PCR for detection of t(9;22) BCR-ABL1 fusion transcripts that result in p190 (E1) or p210 (E13, E14) fusion proteins. Analytical sensitivity is 1 tumor cell in 100,000 normal cells. Log reduction score is reported. Longitudinal data will appear as a NeoTRACK Result on the report. 

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

5-7 Days

81206, 81207

BCL1 Translocation, t(11;14) Molecular Genetics

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.

"•Peripheral blood: 4 mL in EDTA tube. •Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
"

Use cold pack for transport, making sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

5-7 Days

81401

B-Cell Gene Rearrangement Molecular Genetics

Detection of clonal IgH and Ig kappa gene rearragements by PCR of IgH framework regions 1, 2, 3 and joining regions, Ig kappa FR3 and Jk regions.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fresh tissue: Two pieces minimum, 0.2 cm3 in RPMI.

Refrigerate fresh tissue until shipping. For all specimens, use cold pack for transport. Make sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81479(x2)

B-Cell & T-Cell Gene Rearrangement  Molecular Genetics

PCR for detection of clonal IgH, Ig kappa, and T cell receptor gene gamma gene rearragements.

•Peripheral blood: 4 mL in EDTA tube.
•Bone marrow: 2 mL in EDTA tube.
•FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
•Fresh tissue: Two pieces minimum, 0.2 cm3 in RPMI.

Refrigerate fresh tissue until shipping. For all specimens, use cold pack for transport. Make sure cold pack is not in direct contact with specimen.

Click here to reference the specimen rejection criteria.

7 Days

81402, 81479(x2)

PCA3 (Prostate Cancer Antigen 3) Transcription Mediated Amplification (TMA) and Hybrid Protection Assay (HPA)

Adjunct to serum PSA for risk stratification of patients undergoing repeat prostate biopsy. The PCA3 test is a molecular assay that detects the mRNA expression of the DD3 gene expressed in prostate cells. In recent studies it was shown to have a specificity of 78% and a sensitivity of 57% in cancer vs. non-cancer.

PROGENSA PCA3 Urine Specimen Transport Tubes required for processing.

Perform an attentive DRE immediately prior to specimen collection (the specimen should be collected within approximately 1 hour of DRE). Instruct patient to collect the FIRST 20 - 30 mL of voided urine following the DRE. Process the specimen as follows within 4 hours of collection (if specimen cannot be processed within 15 minutes, store refrigerated or on ice): 1) Invert specimen cup 5 times to re-suspend cells. 2) Add 2.5 mL of urine to each of two GEN-PROBE PROGENSA PCA3 Urine Specimen Transport Tubes. Do NOT puncture the foil seal on the cap of the Transport Tube. The specimen volume should fall between the two black fill lines on the Transport Tube. 3) Tightly re-cap each Urine Transport Tube and gently invert 5 times to mix. The specimen is now a "processed" urine specimen. Refrigerate. Refrigerated specimens must be received by Lab within 4 days of collection. For longer storage, freeze and ship specimen on dry ice. Include serum PSA result and patient history with the specimen.

Click here to reference the specimen rejection criteria.

5 - 8 Days

81313

ABL1 Kinase Domain Mutation Analysis Molecular Genetics

RT-PCR and sequencing of the BCR-ABL 1 fusion transcript for qualitative detection of mutations associated with resistance to imatinib and other tyrosine kinase inhibitors. Analysis includes detection of the common T315I mutation.

• Peripheral blood: 4 mL in EDTA tube.
• Bone marrow: 2 mL in EDTA tube.

Use cold pack for transport, making sure cold pack is not in direct contact with specimen. Ship same day as drawn whenever possible; specimens <72 hours old preferred.

Click here to reference the specimen rejection criteria.

10 Days

81401

Methodology Test Name Test Description Specimen Requirements Storage and Transport Specimen Rejection Criteria Turn Around Time (TAT) CPT Codes*

*The CPT codes provided with our Test Descriptions are based on AMA guidelines and are for informational purposes only. Correct CPT coding is the sole responsibility of the billing party. Please direct any questions regarding coding to the payor being billed.