Department of Pathology

Mailing Location:

OSU Molecular Pathology Laboratory

680 Ackerman Road, Room 449

Columbus, OH 43202

Laboratory: 614-366-4557

Fax: 614-366-4589

CLIA: 36D1080238

CAP: 7210235

Requisition for submitting samples

Consult test menu and contact laboratory for information on acceptable sample types and volumes. For questions on test interpretation, contact Director Thomas Prior, PhD at (614-366-2829)


New Client Form

Contact James Lab Operations Director Mindy Pifher for information on setting up an account or pricing.


Cancer Genetics Assays

  • Test Code:  MEN2
  • Test Name:  Multiple Endocrine Neoplasia Type II (MEN2), RET Gene Characterization
  • CPTCode:  81405
  • Test Description:  The RET tyrosine kinase shows germline mutations, inherited in an autosomal fashion, in patients with multiple endocrine neoplasia type (MEN) 2A, MEN 2B and familial medullary thyroid carcinoma (FMTC). These activating, oncogenic RET mutations include missense changes involving five different cysteine codons in exons 10 and 11 seen in 95% of patients with MEN 2A and 85% of patients with FMTC. A single missense mutation in exon 16 of RET is found in the majority of MEN 2B patients. Rarer missense mutations at codon 768, codon 804 have also been found to occur primarily in FMTC patients. This assay assesses all of these sites in RET by PCR-based Sanger sequencing. Peripheral blood (not tumor tissue) is tested.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  PTENB
  • Test Name:  PTEN Gene Characterization, Cowden Syndrome/BRR
  • CPTCode:  81321
  • Test Description:  Germline mutations in the tumor suppressor gene PTEN have been identified in autosomal dominantly inherited hamartoma syndromes, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRR) and proteus-like syndrome. PTEN mutations have also been identified in patients with autism and macrocephaly. Most clinically significant PTEN mutations are completely or partially inactivating leading to reduced PTEN protein phosphatase activity. This assay provides DNA sequencing of the entire coding region of PTEN.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE

Developmental and Metabolic Genetic Disorders

  • Test Code:  FRAGXB
  • Test Name:  Fragile X Comprehensive Analysis
  • CPTCode:  81243, 81244
  • Test Description:  The X-linked fragile X syndrome is caused by an expansion in the trinucleotide CGG in the promoter region of the FMR1 gene. Normal individuals have between 6 and 54 repeats. In the disease causing alleles, full mutations, the number of repeats is > 200. Alleles with more than 200 repeats usually have hypermethylation of the CGG repeat and the adjacent FMR1 promoter. The full mutations arise from premutation alleles (55-200 CGGs) by maternal transmission but not paternal transmission. The risk for premutation expansion to a full mutation increases as the premutation increases in size. Female carriers of premutations are at a 20% risk for premature ovarian failure; male permutation carriers are at risk for the fragile X associated tremor/ataxia syndrome. (FXTAS). Individuals with 45 to 54 repeats (intermediate or gray zone range) have some risk for repeat instability and transmission into the premutation range, only by maternal transmission. This test code comprises two different molecular tests performed on all patients: PCR and Southern blotting. The smaller repeat sizes (< 100 CTGs) is established by PCR analysis, followed by fragment sizing through capillary gel electrophoresis at sufficient resolution to allow separation of alleles with one repeat difference. The Southern blot test is necessary to detect the full mutation and allows for the determination of methylation status. The combination of Southern blotting and PCR can detect all fragile X expansions.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  HUNTB
  • Test Name:  Huntington's Disease
  • CPTCode:  81401
  • Test Description:  Huntington’s disease (HD) is an autosomal dominantly inherited disease caused by a mutational expansion of a polymorphic repetitive trinucleotide sequence (CAG)n located in the 5’ region of the HTT gene. The number of CAG repeats in normal individuals ranges from 11 to about 27 copies. There is an intermediate range of 28 to 35 repeats that is not associated with the disease phenotype, but maybe unstable and expand in further generations. In HD, the range of repeat lengths expands to greater than 35 repeats and is unstable. A gene with 36-39 repeats may result in incomplete penetrance or later onset of symptoms. In this assay, the number of repeats is established by PCR analysis, followed by fragment sizing through capillary gel electrophoresis at sufficient resolution to allow separation of alleles with one repeat difference. A second confirmation PCR test, utilizing a different set of primers, is performed on all samples showing expansions. CAG expansions account for >99% of cases of HD and therefore a result of >40 repeats is >99% sensitive. Pre- and post-test genetic counseling is required.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  KENN
  • Test Name:  Kennedy Disease, Spinal Bulbar Muscular Atrophy
  • CPTCode:  81401
  • Test Description:  Kennedy Disease (spinal and bulbar muscular atrophy) is an X-linked adult onset motor neuropathy caused by a CAG trinucleotide exapansion in the first exon of the androgen receptor (AR). The number of CAG repeats in normal individuals ranges from 10 to about 36 repeats. In patients with Kenndey disease the repeat range exceeds 39 repeats and the CAG repeat length correlates with disease severity and age of onset. The pathogenic mechanism involves a toxic effect on cells of the abnormal protein product. In this assay, the number of repeats is established by PCR analysis, followed by fragment sizing through capillary gel electrophoresis at sufficient resolution to allow separation of alleles with one repeat difference. All patients with Kennedy Disease have a CAG expansion and no other related mutations in the AR gene have been identified.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  LHONB
  • Test Name:  Leber's Hereditary Optic Neuropathy (LHON)
  • CPTCode:  81401x4
  • Test Description:  Leber's Hereditary Optic Neuropathy (LHON) is caused by mutations in mitochondrial DNA. All of the mutations result in amino acid substitutions in complex I polypeptides. LHON is maternally inherited (mitochondrial inheritance) and exhibits variable penetrance. Approximately 90% of the patients with LHON will be positive for one of the 4 most common mutations, namely m.3460G>A in MT-ND1, m.11778G>A in MT-ND4, m.14484T>C in MT-ND6 and m.15257G>A in MT-CYB. This assay screens for these LHON mutations by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  MTHFRB
  • Test Name:  Methylene Tetrahydrofolate Reductase, Thermolabile Polymorphism
  • CPTCode:  81291
  • Test Description:  Increased levels of homocysteine have been identified as a risk factor for both arterial and venous thromboembolic disease. Elevated levels of homocysteine can result from genetic or nutritional disturbances. A polymorphism (677C>T, c.665C>T, p.Ala222Val) in the gene encoding for 5,10-methylenetetrahydrofolate reductase (MTHFR) gives rise to a thermolabile form of the enzyme that is associated with increased levels of homocysteine when inherited as a homozygous trait. The polymorphism alters a conserved amino acid. The incidence of the homozygous state among Caucasians is approximately 9%, making it a commonly-occuring genetic risk factor for premature atherosclerotic vascular disease and thromboembolic disease. The heterozygous state has an incidence of approximately 42% among Caucasians and is associated with near-normal levels of homocysteine, therefore the heterozygous state does not appear to be a significant risk for vascular disease. This assay screens for this MTHFR polymorphism using PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  MYOTON
  • Test Name:  Myotonic Dystrophy (DM1) Comprehensive Analysis
  • CPTCode:  81401, 81404
  • Test Description:  Myotonic dystrophy type I (DM1) is an autosomal dominant neuromuscular disorder that is caused by a mutational expansion of a repetitive trinucleotide sequence (CTG)n located in the 3’ untranslated region of the myotonin-protein kinase gene (DMPK). The number of CTG repeats in normal individuals ranges from five to approximately 34 copies. Individuals with 35 to 49 CTG repeats (premutation alleles) have not been reported to develop DM1, but the number of repeats may increase when transmitted in the next generation. When the repeat size exceeds 50 CTGs (in some patients up to several thousands), the allele becomes unstable and results in the DM1 phenotype. Our diagnostic strategy consists of two molecular tests performed on all patients: PCR and Southern blotting. The smaller repeat sizes (< 100 CTGs) associated with normal or mildly affected cases is established by PCR analysis, followed by fragment sizing through capillary gel electrophoresis at sufficient resolution to allow separation of alleles with one repeat difference. The Southern blot test is necessary to detect large expansions (>100 CTGs) and repeat sizes are estimated from the blots. The combination of Southern blotting and PCR can detect all DM1 mutations.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  MERFB
  • Test Name:  Myoclonic Epilepsy with ragged-red fibers (MERRF) & Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)
  • CPTCode:  81401
  • Test Description:  Mitochondrial disorders are both clinically and genetically heterogeneous, with variable expression, incomplete penetrance, and differing age of onset. Deleterious mitochondrial DNA (mtDNA) mutations are often present in a heteroplasmic state (presence of wild-type and mutant). The type of mtDNA mutation, the degree of heteroplasmy, and the tissue distribution contribute to the clinical phenotype and severity of the disease. Only females carrying the mutation are at risk of passing the mutation onto her offspring (maternal inheritance). Our diagnostic strategy consists of screening a common panel of point mutations associated with: mitochondrial encephalomyopathy with lactic acidosis (MELAS), myoclonic epilepsy with ragged-red fibers (MERRF). This assay screens for the m.3242A>G and the m.3271T>C MELAS mutation in MT-TL1 and the m.8344A>G and m.8356T>C MERRF mutations in MT-TK by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  SKELB
  • Test Name:  Skeletal Dysplasia, FGFR3 Gene Characterization
  • CPTCode:  81404
  • Test Description:  Germline missense mutations in the fibroblast growth factor receptor 3 gene (FGFR3) have been found in patients with achondroplasia, hypochondroplasia, and thanatophoric dwarfism. A mutation at codon 380 of FGFR3, which results in a substitution of glycine to arginine, is seen in >98% of patients with achondroplasia. Hypochondroplasia is associated with a mutation at codon 540 which results in a substitution of asparagine to lysine; this mutation is found in about 60-70% of the patients. Thanatophoric type I (curved femurs and variable cloverleaf skull) is genetically more heterogeneous and due to a mutation at codon 248, which results in the substitution of arginine to cysteine, in about 55% of the cases. This assay assesses the sites of disease-associated mutations in FGFR3 by PCR-based Sanger sequencing.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum (Neonates 1 ml minimum)
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  PTENB
  • Test Name:  PTEN Gene Characterization, Cowden Syndrome/BRR
  • CPTCode:  81321
  • Test Description:  Germline mutations in the tumor suppressor gene PTEN have been identified in autosomal dominantly inherited hamartoma syndromes, including Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRR) and proteus-like syndrome. PTEN mutations have also been identified in patients with autism and macrocephaly. Most clinically significant PTEN mutations are completely or partially inactivating leading to reduced PTEN protein phosphatase activity. This assay provides DNA sequencing of the entire coding region of PTEN.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  SMNSEQ
  • Test Name:  SMN1 Gene Characterization - Compound Heterozygote Sequencing
  • CPTCode:  81405
  • Test Description:  The standard diagnostic molecular test for spinal muscular atrophy (SMA) is copy number assessment of SMN1 and SMN2 (see separate test code). In that assay, the absence of both copies of the SMN1 gene is a very reliable and sensitive indicator of SMA. However, about 5% of affected patients have other types of mutations in the SMN1 gene that will not be detected solely by copy number analysis. Due to the relatively high deletion frequency of this gene in the population, most of these affected patients will be compound heterozygotes with one SMN1 allele being deleted and the other showing a mutation. This test, which uses DNA sequencing to assess the entire coding regions of SMN1, can detect SMA-associated nonsense mutations, missense mutations, splice site mutation insertions, and small deletions. The test is appropriate for a patient with a SMA-like phenotype who possesses a single copy of SMN1. It can be added on after the initial diagnostic testing has been performed or to complement a diagnostic screen performed in another laboratory.
    The absence of both copies of the SMN1 gene is a very reliable and sensitive assay for the molecular diagnosis of SMA, however about 5% of affected patients have other types of mutations in the SMN1 gene that will not be detected by homozygous deletion testing. Due to the high deletion frequency and according to the Hardy-Weinberg equilibrium, the majority of these patients will be compound heterozygotes; with one SMN1 allele being deleted and the other allele with a point mutation or other types of small mutations. If a patient with a SMA-like phenotype possesses only a single copy of SMN1, it is likely that the remaining copy contains a more subtle mutation, including nonsense mutations, missense mutations, splice site mutation insertions, and small deletions. When a patient possesses two copies of SMN1, then other motor neuron disorders should be considered such as: spinal muscular atrophy with respiratory distress, X-linked spinal muscular atrophy, distal muscular atrophy, and juvenile amyotrophic lateral sclerosis. As a consequence of the SMN1 gene being relatively small, and given the uniform spectrum of mutations, it is a relatively straightforward procedure to sequence the gene and identify mutations in patients who are negative for the diagnostic homozygous deletion test. However, it is necessary to verify that the intragenic mutation has occurred in the SMN1 gene and not the SMN2 gene. As an initial screen, primers that do not distinguish between SMN1 and SMN2 are used to amplify each exon for direct DNA sequencing. If variants or mutations are identified, the mutation is then confirmed by SMN1-specific long-range PCR amplification followed by direct DNA sequencing of the specific exon in the SMN1 long-range product. SMN1 sequencing is reserved for only patients with a single copy of the SMN1 copy. Important limitations for SMN direct gene sequencing include: 1) mutations in exon 1 cannot be confirmed by the long range PCR strategy due to the large intron 1 size 2) DNA sequencing does not detect large deletions or insertions, 3) mutations in patients exhibiting mosaicism or chromosomal rearrangements may not be detectable using sequencing technology and 4) rare possibility variants of unknown significance.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  SMAMUT
  • Test Name:  Spinal Muscular Atrophy, SMN1 Diagnostic
  • CPTCode:  81400
  • Test Description:  The survival motor neuron 1 (SMN1) gene has been shown to be homozygously deleted in approximately 95% of the autosomal recessively inherited spinal muscular atrophy (SMA) cases (0 SMN1 copies). The majority of the other 5% of affected patients are compound heterozygotes possessing a single SMN1 deletion (1 SMN1 copy) and a smaller intragenic type of mutation within the SMN1 gene. Loss of SMN1 is essential to the pathogenesis of the disease, while the disease severity is primarily correlated with the number of copies of SMN2. Most type I patients have two copies of SMN2 (and occasionally one copy). Three gene copies are common in SMA type II patients, whereas type III patients often have 3 or 4 copies of SMN2. The copy number of SMN1 and SMN2 are determined by coamplification of SMN1, SMN2, and internal copy number standards, and the ratios are quantitated. End-point detection of amplification of fluorescently tagged PCR products is done by running the samples through a capillary gel electrophoresis. The test has a sensitivity of approximately 95% and nearly 100% specificity.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  SMADOS
  • Test Name:  Spinal Muscular Atrophy, SMN1 Carrier Testing
  • CPTCode:  81401
  • Test Description:  The SMN1 gene has been shown to be homozygously deleted in approximately 95% of the autosomal recessively inherited spinal muscular atrophy (SMA) cases. Carrier status is established by the accurate determination of the SMN1 copy number. Non-carriers have 2 and occasionally more copies of SMN1, whereas carriers have a single copy of the SMN1 gene. The SMN1 copy number is determined by a quantitative multiplex PCR (qPCR) assay, which co-amplifies multiple genomic loci to determine gene copy number. The copy number of SMN1 is determined by coamplification of SMN1, SMN2, and the internal standards, and the ratios are quantitated. End-point detection of amplification of fluorescently tagged PCR products is done by running the samples through a capillary gel electrophoresis. The clinical sensitivity of the carrier test is about 90%. Causes for the reduced clinical sensitivity are due to the occurrence of carriers who have two copies of the SMN1 gene on one chromosome and a homozygous deletion on the other. Also, the SMN1 gene has been shown to have a de-novo mutation rate of about 2%. The dosage analysis does not test for SMN1 point mutations which occur in about 5% of affected individuals. The SMN2 copy number is correlated with the severity of the affected state and does not provide information regarding the carrier state.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  THAN
  • Test Name:  Thanatophoric Dysplasia, FGFR3 Gene Characterization
  • CPTCode:  81404
  • Test Description:  Germline missense mutations in the fibroblast growth factor receptor 3 gene (FGFR3) have been found in patients with achondroplasia, hypochondroplasia, and thanatophoric dwarfism. Thanatophoric type I (curved femurs and variable cloverleaf skull) is genetically more heterogeneous and due to a mutation at codon 248, which results in the substitution of arginine to cysteine, in about 55% of the cases. Thanatophoric type II (straight femurs and severe cloverleaf skull) has been shown to be genetically homogenous and due to a mutation at codon 650 which results in the substitution of lysine to glutamic. There are also a number of rare missense mutations distributed throughout the FGFR3 gene (codons: 249, 371, 373, and 807) which are also analyzed. This assay assesses the sites of disease-associated mutations in FGFR3 by PCR-based Sanger sequencing.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 2 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE

Hematology and Thrombotic Risk Assays

  • Test Code:  ACEGB
  • Test Name:  Angiotensin Converting Enzyme (ACE) Genotype
  • CPTCode:  81400
  • Test Description:  Angiotensin converting enzyme (ACE) is a zinc metallopeptidase responsible for converting angiotensin I to angiotensin II. The ACE gene is located on chromosome 17q23, spans 21 kb and contains 26 exons. The gene contains a well-described polymorphism in intron 16. This region is an Alu repetitive sequence and the presence (insertion, I) or absence (deletion, D) of a 287 bp sequence determines the polymorphism. Studies have shown that the D/D phenotype is a risk factor for progressive renal function loss in a spectrum of chronic renal disorders as well as increased risk for stroke. This assay screens for the insertion/deletion polymorphism by PCR and agarose electrophoresis.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  FACVMB
  • Test Name:  Factor V Leiden
  • CPTCode:  81241
  • Test Description:  Resistance to activated protein C has been observed in 30-40% of patients with idiopathic venous thromboembolism (VTE). The most common cause of resistance to activated protein C is variation in the Factor V gene which replaces the arginine at codon 506 with glutamine (common names, Factor V Leiden, G1691A, R506Q, c.1601G>A, p.Arg534Gln). This change creates a Factor V variant which cannot be properly inactivated by protein C. The Factor V Leiden has an incidence of approximately 5% in the general population. Heterozygotes Factor V Leiden carriers have an approximate 5-fold increased risk for VTE, while the risk among homozygous carriers is increased 80- to 100-fold. This assay screens for Factor V Leiden by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  FACVMB
  • Test Name:  Factor V Leiden
  • CPTCode:  81241
  • Test Description:  Multiple variations in the genes in the coagulation cascade can lead to increased risk of venous thromboembolism (VTE). Resistance to activated protein C has been observed in 30-40% of patients with idiopathic VTE. The most common cause is a variation in the Factor V gene which replaces the arginine at codon 506 with glutamine (G1691A, R506Q, c.1601G>A, p.Arg534Gln). This Factor V Leiden variant cannot full activate protein C and is present in approximately 5% of the general population. Heterozygotes Factor V Leiden carriers have an approximate 5-fold increased risk for VTE, while the risk among homozygous carriers is increased 80- to 100-fold. The G20210A (c.*97G>A) variation in the prothrombin (F2) gene has been shown to be associated with an increased risk of idiopathic venous thromboembolism (VTE). This mutation leads to increased prothrombin synthesis due to altered post-transcriptional mRNA processing. Carriers of G20210A have higher plasma prothrombin levels and a 2- to 3-fold increased risk of VTE. The prothrombin G20210A has an incidence of approximately 2% in the general population. This panel offers testing for both Factor V Leiden and F5 G20210A. Both assays screens for these variants by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  HHCH
  • Test Name:  Hereditary Hemochromatosis
  • CPTCode:  81256
  • Test Description:  Hereditary hemochromatosis (HH) is an autosomal recessive iron-overload, which affects men more than women, associated with mutations in the HFE gene. Most cases are due to a homozygous single base mutation (c.845G>A) resulting in the substitution of tyrosine for cysteine at codon 282 (p.Cys282Tyr). Studies indicate that at least 85% of HH patients carry two copies of the mutation. A second low-penetrant mutation, p.His63Asp, also occurs in the HFE gene. Approximately 3-5% of affected patients will be compound heterozygotes, possessing one copy of the p.Cys282Tyr and one copy of the p.His63Asp mutation. This assay screens for both HH-associated mutations by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  PRMUTB
  • Test Name:  Prothrombin Variant
  • CPTCode:  81240
  • Test Description:  The G20210A (c.*97G>A) variation in the prothrombin gene (F2) has been shown to be associated with an increased risk of idiopathic venous thromboembolism (VTE). This mutation leads to increased prothrombin synthesis due to altered post-transcriptional mRNA processing. Carriers of G20210A have higher plasma prothrombin levels and a 2- to 3-fold increased risk of VTE. The prothrombin G20210A has an incidence of approximately 2% in the general population. This assay screens for the G20210A prothrombin variation by PCR followed by restriction enzyme digestion.
  • Specimen Description:
    • Peripheral blood: purple (EDTA) or yellow (ACD); 3-5 ml preferred, 1 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack or at RT. DO NOT FREEZE

Mailing Location:

  • OSU Molecular Pathology Laboratory
  • Innovation Center at Polaris; Second Floor
  • 2001 Polaris Parkway
  • Columbus, Ohio 43240
  • Laboratory: 614-293-3618
  • Fax: 614-293-7013
  • CLIA: 36D1046162
  • CAP: 7194091
Requisition for submitting samples

Consult test menu and contact laboratory for information on acceptable sample types and volumes. For questions on test interpretation, contact Medical Director Weiqiang Zhao, MD, PhD.


New Client Form

Contact Division Director Dan Jones, MD, PhD for information on setting up an account or pricing.


Cancer PCR/sequencing Tests

  • Test Code:  BCR190
  • Test Name:  BCR-ABL1, P190, quant RT-PCR (ALL)
  • CPTCode:  81207, G0452
  • Test Description:  This assay detects the e1a2 BCR-ABL1 fusion transcript associated with Philadelphia chromosome (Ph) positive lymphoblastic leukemia/lymphoma (ALL). Transcripts are detected in reverse transcription real-time PCR method followed by capillary electrophoretic transcript typing and reported as a ratio of BCR-ABL1 to ABL1 transcript. Assay sensitivity is 4-5 logs producing a highly sensitivity quantitative assay suitable for therapy response monitoring in Ph+ ALL. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with relevant clinicopathologic findings and other laboratory testing, when available.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3-10 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  BCR210
  • Test Name:  BCR-ABL1, P210, quant RT-PCR (CML)
  • CPTCode:  81206, G0452
  • Test Description:  Detects the b2a2 and b3a2 BCR-ABL1 fusion transcripts associated with chronic myelogenous leukemia (CML). Transcripts are detected in a multiplex reverse transcription real-time PCR method followed by capillary electrophoretic transcript typing. Results are reported as a ratio of BCR-ABL1 to ABL1 transcript, normalized to the international scale (IS). Assay sensitivity is 4-5 logs producing a highly sensitivity quantitative assay suitable for therapy response monitoring in CML. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with relevant clinicopathologic findings and other laboratory testing, when available.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3-10 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  BCR ABL t(9:22)
  • Test Name:   BCR ABL, t(9:22) - quantitative
  • CPTCode:   81479, G0452
  • Test Description:   Detects the b2a2, b3a2 and e1a2 BCR-ABL1 fusion transcripts associated with Philadelphia chromosome (Ph) positive lymphoblastic leukemia/lymphoma (ALL) and chronic myelogenous leukemia (CML). Transcripts are detected in a multiplex reverse transcription real-time PCR method followed by capillary electrophoretic transcript typing. For b2/b3a2 transcripts, results are reported as a ratio of BCR-ABL1 to ABL1 transcript, normalized to the international scale (IS). Assay sensitivity is 4-5 logs producing a highly sensitivity quantitative assay suitable for therapy response monitoring in CML and Ph+ ALL. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with relevant clinicopathologic findings and other laboratory testing, when available.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3-10 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  BRAFM
  • Test Name:  BRAF Mutation Analysis, Exon 15 (V600)
  • CPTCode:  81210
  • Test Description:  Activating mutations in exon 15 of BRAF, particularly at codon 600, are common in tumors of many types. This assay utilizes DNA sequencing to evaluate for V600E and alternate pathogenic mutations in this exon. This assay is useful to identify V600E/K/R mutations in melanoma which may be responsive to BRAF-directed kinase inhibitors, detect V600E mutations characteristic of hairy cell leukemia, identify V600 mutations that have diagnostic and prognostic significance in papillary thyroid carcinoma, and to profile BRAF mutation status in carcinomas of colon, ovary and endometrium.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Cerebrospinal fluid and cytology fluid: secure screw-cap tube
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
    • Ship fresh tissue on dry ice after snap-freezing
  • Test Code:  BTKPLCG2
  • Test Name:  BTK and PLCG2, Comprehensive Mutation Profiling
  • CPTCode:  81406, 81479, G0452
  • Test Description:  Chronic lymphocytic leukemia (CLL) and other B-cell malignancies often have abnormal activation of targetable growth regulatory kinases such as the Bruton’s tyrosine kinase (BTK). BTK inhibitors have been shown to be highly efficacious in CLL and some B-cell lymphomas. However, subsets of treated patients become resistant due to acquisition of particular BTK and PLCG2 mutations. Testing for these mutations can assist in understanding causes of therapy resistance and monitoring responses to BTK inhibitors. The assay will detect all pathogenic mutations in the coding region of both genes but is validated for coverage of the BTK C481S hotspot mutation to at least 1% allele frequency in the purified cells. Other resistance hotspots covered include PLCG2 L845F, R665W, and S707Y. This assay includes a pathologist interpretation in the report that correlates molecular findings with hematologic findings and available clinical and other laboratory data. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with relevant clinicopathologic findings and other laboratory testing, when available.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 5-10 ml preferred, 5 ml minimum (sample sufficient to yield a minimum of 5 x 10E4 enriched B cells is required for testing); green-top (heparin) or yellow-top (ACD) tubes are acceptable.
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack. DO NOT FREEZE
  • Test Code:  BTKR
  • Test Name:  BTK Resistance Mutation (C481S)
  • CPTCode:  81479
  • Test Description:  Bruton tyrosine kinase (BTK) inhibitors, such as ibrutinib, are widely used in the treatment of chronic lymphocytic leukemia (CLL) and other B-cell lymphoproliferative disorders. Prolonged treatment with BTK inhibitors can result in the emergence of mutations in BTK, particularly C481S, that are associated with disease progression and trigger a change in therapy. Clinical studies performed at OSU demonstrate that even low levels of BTK C481S can herald eventual disease progression and consideration of therapy switch. This assay sensitively detects the C481S mutation in BTK (c.1442G>C or c.1441T>A) using mutation-specific digital droplet PCR.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum; Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube or slides with at least two identifiers; provide CBC data or pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  CALR
  • Test Name:  Calreticulin mutation analysis
  • CPTCode:  81219
  • Test Description:  Insertion-deletion frameshift mutations in exon 9 of the calreticulin gene (CALR) are identified in approximately 25% of patients with myeloproliferative neoplasms (MPN) and are essentially mutually exclusive with JAK2, MPL and CSF3R pathogenic mutations. Among MPN subtypes, CALR mutations are associated with essential thromobocythemia/thrombocytosis (ET), seen in 60-70% of cases that lack JAK2 V617F, and primary myelofibrosis (PMF), seen in 80-90% of JAK2 mutation-negative cases. PMF cases with mutated CALR have a lower risk of thrombosis and longer overall survival than patients with JAK2 V617F or lack both mutations.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube or slides with at least two identifiers; provide CBC data or pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  CEBPA
  • Test Name:  CEBPA Mutation Analysis
  • CPTCode:  81218
  • Test Description:  The CCAAT/enhancer binding factor alpha (CEBPA) gene is mutated in 7-10% of acute myeloid leukemia (AML). Biallelic CEBPA mutation, in the absence of FLT3 mutation, has been associated with favorable prognosis in AML. This assay detects missense and insertion/deletion mutations anywhere in the coding region of CEBPA In blood and bone marrow samples using capillary gel sizing and Sanger sequencing. The presence of single versus double or biallelic mutations is reported.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3-10 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  COLNGS
  • Test Name:  Colon Cancer Mutation Panel (COLMOL)
  • CPTCode:  81445, G0452
  • Test Description:  Colorectal cancer (CRC) and other GI malignancies frequently show activating mutations in the RAS pathway or other interacting growth regulatory genes. Activating KRAS mutations are found in up to 90% of carcinomas of the pancreas/bile duct and 50% of colorectal carcinomas and have been clearly shown to predict lack of response to EGFR immunotherapeutic agents, such as cetuximab. However, other relatively frequently mutated genes such as PIK3CA and NRAS may also have predictive effects in CRC. This assay detects pathogenic variants in the commonly-mutated areas of 22 genes involved implicated in CRC. This panel includes extended analysis of KRAS and NRAS (exons 2-4) as recommended by the newest National Comprehensive Cancer Center (NCCN) guidelines. The interpretive comment, provided by a board-certified molecular pathologist, provides guidance on mutation significance. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 uM thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with two identifiers; provide pathology report if sending from outside OSU
    • Transport FNA in RPMI media to the lab within 3 days of collection and store 4C until ready to transport
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  EGFRM
  • Test Name:  EGFR Mutation Analysis (exons 19/21)
  • CPTCode:  81235
  • Test Description:  Activating mutations in the epidermal growth factor receptor (EGFR) are present in approximately 10% of non-small cell lung carcinomas. These mutations are associated with response to EGFR-directed kinase inhibitors, such as erlotinib and gefitinib. The most common responsive EGFR mutations are insertions/deletions in exon 19 and a point mutation in exon 21 producing the L858R missense substitution. This assay selectively detects mutations in these two sites within EGFR, using PCR-based fragment analysis with restriction digestion.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 micron thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
    • Ship fresh tissue on dry ice after snap-freezing
  • Test Code:  EGFRT
  • Test Name:  EGFR T790M mutation analysis (resistance)
  • CPTCode:  81235
  • Test Description:  Activating mutations in the epidermal growth factor receptor (EGFR) are present in approximately 10% of non-small cell lung carcinomas. These mutations are associated with response to EGFR-directed kinase inhibitors, such erlotinib and gefitinib. Following treatment with EGFR-targeted therapy, a proportion of patients develop resistance associated with an acquired T790M EGFR mutation. T790M EGFR mutation is also rarely present as a germline mutation in families with increased risk for lung cancer. This assay selectively detects T790M mutations using PCR-based DNA sequencing.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 uM thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with two identifiers; provide pathology report if sending from outside OSU
    • Transport FNA in RPMI media to the lab within 3 days of collection and store 4C until ready to transport
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  XRAS
  • Test Name:  Extended RAS mutation panel
  • CPTCode:  81275, 81276, 81210, 81311, G0452
  • Test Description:  Colorectal cancer (CRC) and other GI malignancies frequently show activating mutations in the RAS/BRAF pathway or other interacting growth regulatory genes. Activating RAS mutations are found in up to 90% of carcinomas of the pancreas/bile duct and 65% of colorectal carcinomas and have been clearly shown to predict lack of response to EGFR immunotherapeutic agents, such as cetuximab. This panel includes extended analysis of KRAS (exons 2-4, codon 12, 13, 61, 117 and 146), NRAS (exons 2 and 3, codons 12, 13 and 61) and BRAF (exon 15, codons 600 and 601) as recommended by the newest National Comprehensive Cancer Center (NCCN) guidelines. The interpretive comment, provided by a board-certified molecular pathologist, provides guidance on mutation significance. Thyroid FNA or thyroid tumor tissue sections can also be tested for diagnostic/prognostic indications. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • FFPE: 1 block or 1 H&E and 8 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 4 slides minimum)
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
  • Test Code:  FLT3B, FLT3BM
  • Test Name:  FLT3, ITD and TK Mutation Analysis
  • CPTCode:  81245, 81246
  • Test Description:  Two acquired activating mutations in the FLT3 tyrosine kinase gene are commonly associated with acute myelogenous leukemia (AML). An internal tandem gene duplication (ITD, also known as FLT3-LM) has been identified in about 20-30% of the patients. The second type of mutation is a missense variation at aspartic acid residue (codon 835) (TKD) and occurs in about 7% of the cases. Identification of these mutations is clinically important since patients harboring one or both of these mutations generally have a worse prognosis and a higher rate of relapse. This assay screens for the ITD and TKD variations by PCR and capillary electrophoresis (ITD) and PCR followed by restriction enzyme digestion and then capillary electrophoresis (TKD). The assay has an estimated sensitivity of detection of 1 in 20 cells.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack or at RT. DO NOT FREEZE
  • Test Code:  IDH12
  • Test Name:  IDH1 and IDH2 mutations
  • CPTCode:  81403x2
  • Test Description:  Isocitrate dehydrogenase 1 and -2 (IDH1 and IDH2) are involved in cell metabolism and epigenetic gene regulation and are frequently mutated in human cancers. In acute myeloid leukemia (AML), IDH mutation may predict for response to IDH-targeted therapies and be an adverse prognostic factor in some subclasses of otherwise favorable-risk disease. In brain tumors, IDH-mutant gliomas have been associated with a better prognosis than cases that lack IDH mutations. Among the differential diagnosis of CNS tumors, IDH mutation may assist in the diagnosis and classification of glial tumors This pyrosequencing test using genomic DNA detects all mutations at codon 132 (exon 4) of IDH1 and codons 140 and 172 (exon 4) of IDH2 in blood, bone marrow, and formalin-fixed paraffin-embedded tissue (FFPE).
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • FFPE: 1 block or 1 H&E and 8 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum)
  • Handling:
    • Label tube or slides with at least two identifiers; provide CBC data or pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  IGHBC
  • Test Name:  IGH/B-cell Gene Rearrangement, PCR
  • CPTCode:  81261, G0452
  • Test Description:  The immunoglobulin heavy chain (IGH) gene undergoes DNA rearrangement as B cells develop. The IGH PCR assay, which can be performed in blood, bone marrow, cytology samples or fresh or fixed tissues, can be used to diagnose B-cell lymphomas and leukemias or alternatively to support the presence of a reactive/polyclonal B-cell population. This assay uses multiplex PCR of the IGH locus for the FR1, FR2 and FR3 primer sets followed by fluorescent fragment analysis by capillary eletrophoresis. This protocol has an overall sensitivity of 90% for detection of a clonal B-cell population at the assay sensitivity limit but can be negative for rearrangement in up to 30% of B-cell neoplasms with a high rate of IGVH mutations (typically follicular lymphomas and myeloma). The assay can also be used to monitor sequential samples for the presence of persistent/recurrent B-cell lymphoma or leukemia. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Cerebrospinal fluid and cytology fluid: secure screw-cap tube
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
    • Ship fresh tissue on dry ice after snap-freezing
  • Test Code:  IGHM
  • Test Name:  IGH Somatic Hypermutation
  • CPTCode:  81263, 81261, G0452
  • Test Description:  This assay analyzes RNA extracted from blood or bone marrow leukocytes for the presence of clonal rearrangements of the immunoglobulin heavy chain gene (IGH). If a clonal B-cell population is present, the extent of somatic mutation of the IGH variable region (IgVH) is determined by Sanger sequencing. IgVH analysis is used in patients with chronic lymphocytic leukemia (CLL) to identify the adverse prognostic group in which the mutation rate is below 2% (“unmutated CLL”). Due to structural sequence changes, a small percentage of CLL cases may be unamplifiable by PCR from cDNA. In those cases, partial IGVH PCR amplification and sequencing from cDNA and DNA can be analyzed. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with relevant clinicopathologic findings and other laboratory testing, when available
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Cerebrospinal fluid and cytology fluid: secure screw-cap tube
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
    • Ship fresh tissue on dry ice after snap-freezing
  • Test Code:  JAK2
  • Test Name:  JAK2 V617 Mutation Analysis
  • CPTCode:  81270
  • Test Description:  Testing for the V617F mutation in JAK2 can assist in diagnosis and classification of myeloproliferative neoplasms and monitoring responses to therapy. The JAK2 V617F mutation is seen in 90% of polycythemia vera, 40-50% of essential thrombocythemia, primary myelofibrosis, occasional cases of myeloproliferative neoplasms of other types, and chronic myelomonocytic leukemia. This assay does not examine exon 12 mutations seen in some cases of polycythemia vera.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  PULNGS
  • Test Name:  Lung Cancer Mutation Panel (PULMOL)
  • CPTCode:  81445, G0452
  • Test Description:  Oncogenic mutations are common in non-small cell lung carcinoma (NSCLC), particularly adenocarcinoma. The identification of activating EGFR mutations that can be targeted by kinase inhibitors is critical to selecting frontline, maintenance and salvage therapy at diagnosis and relapse. AKT1, ALK, BRAF, DDR2, ERBB2/HER2, FGFR1/2/3, MET and PIK3CA can also demonstrate activating mutations that may be targetable. Other mutations such as in KRAS and TP53 have strong prognostic significance and help provide therapeutic guidance. This 22-gene Ion Torrent next-generation sequencing panel assesses the commonly-mutated areas of these genes. Also assessed are CTNNB1, ERBB4, FBX7, MAP2K1, NOTCH1, NRAS, PTEN, SMAD4 and STK11. The panel components identify commonly dysregulated pathways and/or pathogenetic risk groups of lung cancer. ALK, ROS1 and RET translocations are not tested for in this panel, and can be ordered by separate FISH assays. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 micron thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with two identifiers; provide pathology report if sending from outside OSU
    • Transport FNA in RPMI media to the lab within 3 days of collection and store 4C until ready to transport
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  MGMT
  • Test Name:  MGMT Promoter methylation, Tumor
  • CPTCode:  81287
  • Test Description:  MGMT promoter methylation can be used to assess silencing of expression of this DNA repair enzyme in tumors. In brain tumors, particularly glioblastoma, presence of MGMT methylation is a predictor of response to certain chemotherapy (e.g. the alkylating agent temozolomide). Such testing can identify a favorable prognostic group where single-agent temozolomide therapy may be warranted. MGMT promoter methylation may also have prognostic significance in other tumor types.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 micron thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with two identifiers; provide pathology report if sending from outside OSU
    • Transport FNA in RPMI media to the lab within 3 days of collection and store 4C until ready to transport
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  MSI
  • Test Name:  Microsatellite Instability (MSI) Analysis, Tumor
  • CPTCode:  81301, G0452
  • Test Description:  The presence of variable expansions of DNA microsatellite sequences is termed microsatellite instability (MSI) and is a feature of many tumors. MSI can result from inherited germline defects in the mismatch repair (MMR) proteins and/or acquired MMR mutations or gene silencing during tumor development. Germline MMR mutation, characteristic of Lynch syndrome or hereditary non-polyposis colorectal cancer (HNPCC), produces early-onset colon, endometrial and sebaceous tumors.
    This MSI assay, which examines 5 mononucleotide microsatellite sequences in tumor and normal DNA from a patient, can be used in association with immunohistochemical detection of MMR proteins in a HNPCC screening algorithms. The pattern in the tumor is compared to normal DNA reference and classified as having high microsatellite instability (MSI-H, 2+ markers), low/equivocal microsatellite instability (MSI-L, 1 marker) or being microsatellite stable (MSS). Detection of MSI can be followed by other testing (BRAF V600E mutation status and/or MLH1 promoter methylation analysis) to help differentiate germline from somatic causes. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 uM thickness), 2 slides minimum or 1 paraffin block
    • Tissue/block must contain adequate amounts of tumor and normal/non-neoplastic tissue
    • If only tumor tissue is present in the block, a peripheral blood must also be sent (purple top/EDTA, 3 ml preferred, 0.5 ml minimum). Order blood sample with test name "MSI-normal blood". For outside sample, additional charges may apply.
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Store blood at 4C until ready to transport
    • Ship blood on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  MLHEND
  • Test Name:  MLH1 Promoter Methylation, Tumor
  • CPTCode:  81288, G0452
  • Test Description:  MLH1 promoter methylation can be used to assess silencing of expression of this DNA repair enzyme in tumors. Testing for MLH1 promoter methylation is indicated in MLH1-negative and/or microsatellite unstable colorectal tumors and other tumors characteristic of Lynch syndrome/HNPCC (e.g. endometrial and sebaceous skin tumors).This assay is utilized for HNPCC protocols after finding absent MLH1 immunohistochemical (IHC) expression and prior to MLH1 gene sequencing. The presence of MLH1 methylation is almost always indicative of a somatic cause for MLH1 protein loss, with no further workup indicated in most cases. An unmethylated MLH1 gene along with MLH1 IHC loss would indicate the need for germline MLH1 sequencing. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Non-decalcified formalin-fixed paraffin-embedded tissues (FFPE): 1 H&E-stained slide and up to 10 uncoated/non-plus sections preferred (10 micron thickness), 2 slides minimum or 1 paraffin block
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with two identifiers; provide pathology report if sending from outside OSU
    • Transport FNA in RPMI media to the lab within 3 days of collection and store 4C until ready to transport
    • Ship glass slides or paraffin block in secure carriers with padding
  • Test Code:  MYLNGS
  • Test Name:  Myeloid Neoplasm Sequencing Panel
  • CPTCode:  81450, G0452
  • Test Description:  Detecting pathogenic mutations in myeloid-associated genes can have significance in diagnostic, prognostic and post-therapy monitoring in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). The panel is also useful in patients with more subtle abnormal hematologic findings to help identify or exclude a clonal hematopoietic disorder. This panel assesses the commonly-mutated areas of 20 genes involved in leukemogenesis. Analytic sensitivity is 5% for missenses mutations and 10% for insertion-deletions so the assay can be used to sequentially monitor patients with AML and MDS following therapy. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3-10 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube with two identifiers
    • Transport to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  NRAS
  • Test Name:  NRAS Mutation Analysis
  • CPTCode:  81311
  • Test Description:  NRAS is a GTPase that when activated by point mutation produces dysregulated growth signaling and oncogenesis. Mutations in NRAS at codons 12, 13 or 61 are found in 10-15% melanomas, acute myeloid leukemias and follicular thyroid neoplasms and less commonly in other tumor types. This assay is commonly used in association with the BRAF, V600 mutation assay to subtype malignant melanoma to aid in therapy selection.
  • Specimen Description:
    • FFPE: 1 block or 1 H&E and 8 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 4 slides minimum)
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
  • Test Code:  APLQ
  • Test Name:  PML-RARA, quantitative PCR
  • CPTCode:  81315
  • Test Description:  This assay detects the PML/RARA fusion transcript associated with the t(15;17) chromosomal translocation and acute promyelocytic leukemia (APL or AML-M3). Real-time/quantitative reverse transcription PCR (RQ-PCR) of blood or bone marrow aspirate is recommended at diagnosis and at regular intervals to monitor response to therapy and remission status in APL. This assay reports normalized copy number (NCN) as a percentage of the PML-RARA transcript compared to ABL1 normalizing transcript. The transcript type is also indicated as short form (bcr3) or long/variant form (bcr1/bcr2).
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
  • Handling:
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM at 4C until ready to transport
    • Ship blood/BM on wet ice pack. DO NOT FREEZE
  • Test Code:  TCRB
  • Test Name:  T-cell receptor beta gene rearrangement, PCR
  • CPTCode:  81340, G0452
  • Test Description:  T-cell receptor (TCR) gene rearrangement studies by PCR can be used to assess for the presence of a clonal or oligoclonal proliferation of T-cells. The assay, which can be performed in blood, bone marrow, cytology samples or fresh or fixed tissues, can be used to diagnose T-cell neoplasms or alternatively to support the presence of a reactive/polyclonal T-cell population. This assay uses multiplex PCR of the TCRB locus using the Biomed-2 consensus primers followed by fluorescent fragment analysis by capillary eletrophoresis. This protocol has a sensitivity of at least 90% for detection of a clonal T-cell population at the assay sensitivity limit. The assay can also be used to monitor multiple tissue sites or sequential samples for the presence of systemic or persistent clonal T-cell population. With this test code, the ordering clinician is provided with an interpretation by a board-certified molecular pathologist integrating genetic results with review of the histologic material submitted.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
    • Fine needle aspirate: cells in culture medium such as RPMI
    • Cerebrospinal fluid and cytology fluid: secure screw-cap tube
    • Frozen tissue: snap-frozen in cryogenic vial or OCT block
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding
    • Ship fresh tissue on dry ice after snap-freezing
  • Test Code:  ZAP70
  • Test Name:  NPM1 ZAP70 promoter methylation, CLL
  • CPTCode:  81479
  • Test Description:  ZAP70 (zeta-chain-associated protein kinase 70) is a gene involved in T-cell signaling that is also expressed abnormally in certain B-cell lymphoproliferative disorders, including a subset of chronic lymphocytic leukemia (CLL). Using several different methodologies (protein expression by flow cytometry or immunohistochemistry, mRNA expression), expression of ZAP70 in CLL has been associated with adverse clinical outcome, including shorter time to treatment and/or shorter overall survival. Absence of methylation of several CpG residues located within the ZAP70 gene also results in ZAP70 expression and correlates with markers of adverse outcome in CLL, such as unmutated IGVH. This assay, using the method of Claus et al (J Clin Oncol, 30:20;2483), interrogates a critical ZAP70 CpG residue by pyrosequencing.
  • Specimen Description:
    • Peripheral blood: purple (EDTA); 3 ml preferred, 0.5 ml minimum
    • Bone marrow aspirate: purple (EDTA); 2 mL preferred, 0.5 ml minimum
    • Formalin-fixed, paraffin embedded tissue (FFPE): 1 block or 1 H&E and 10 unstained sections cut onto non-plus/uncoated glass slides (10 micron thickness, 2 slides minimum) or shaves in centrifuge tube
    • Fine needle aspirate: cells in culture medium such as RPMI
  • Handling:
    • Label tube or slides with at least two identifiers; provide pathology report if sending from outside OSU
    • Transport fresh samples to the lab within 2 days of draw
    • Store blood/BM/fluid at 4C until ready to transport
    • Ship blood/BM/fluid on wet ice pack. DO NOT FREEZE
    • Ship glass slides or paraffin block in secure carriers with padding

Fluorescent in situ hybridization (fixed tissue)*

  • 1p19q, FISH for CNS tumors
  • 3p/3q, FISH
  • ALK, FISH
  • BCL6 breakapart, FISH for lymphoma
  • CCND1, FISH
  • CHOP, FISH
  • CMET, FISH
  • EGFR, FISH
  • EWSR1, FISH
  • FGFR1, FISH
  • HER2, FISH
  • IGH/BCL2, FISH
  • MALT1 breakapart, FISH for lymphoma
  • MDM2, FISH
  • MYC, FISH
  • RET, FISH
  • ROS1, FISH
  • SYT1, FISH
  • XY FISH


*testing available for cytospin, blood, bone marrow and other unfixed sample available in the cytogenetic laboratory for many probes