Specimen Type

Laboratory assay overview

This test is used for confirmation/identification of cancer-related alteration in non-small-cell lung cancer. This is a test for the identification of NSCLC patients who may be eligible for treatment.

Laboratory assay overview

This test is used for confirmation/identification of non-small-cell lung cancer (this is a test for the identification of NSCLC patients who may be eligible for treatment) and qualitative/quantitative evaluation of ALK rearrangement.

Laboratory assay overview

This test is used for prenatal detection of chromosome abnormalities in at-risk pregnant women. AFP analysis of midtrimester amniotic fluid for detection of open neural tube and ventral wall defects. This test reflexes to AChE and fetal hemoglobin if AF-AFP is abnormal. While chromosome analysis is being performed, additional biochemical or molecular analysis can be performed.

Laboratory assay overview

This test detects microscopically visible chromosomal abnormalities and, if normal, SNP array reflex will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies.It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent.

Laboratory assay overview

This test is used to determine fetal karyotype, prenatal diagnosis of Down syndrome or other chromosomal abnormalities; and analysis of midtrimester amniotic fluid for detection of open neural tube and ventral wall defects.

Laboratory assay overview

The test determines fetal karyotype. The test allows prenatal detection of chromosomal rearrangements, aneuploidy, or mosaicism. Such groups include women who: • are age 35 years of age or older • have a previous child having chromosome abnormality or multiple congenital abnormalities • have had two or more previous spontaneous abortions • have a family history of a chromosome abnormality • are known carriers of an X-linked disorder • are 31 years of age or older with twin pregnancies • have abnormal fetal ultrasound findings • have a positive maternal serum marker screen Additional biochemical or molecular tests may be performed on the cultured amniocytes.

Laboratory assay overview

The chromosome analysis determines fetal karyotype. A normal chromosome analysis will reflex to a high-resolution SNP microarray analysis targeting 2.8 million copy-number and allele-specific genome sites. The SNP assay will detect chromosomal imbalances that could be associated with developmental delay/congenital anomalies. It provides possible detection of uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent.

Laboratory assay overview

This test is used to evaluate possible chromosomal abnormalities as cause of miscarriage. The SNP assay will detect chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. It will also allow the detection of complete or partial molar pregnancies.

Laboratory assay overview

This test is used to evaluate possible chromosomal abnormalities as the cause of miscarriage, as well as an extended study of mosaicism found in blood chromosome analysis.

Laboratory assay overview

VENTANA FOLR1 RxDx Assay is an immunohistochemical assay using mouse monoclonal anti-FOLR1-2.1, intended for use in the assessment of folate receptor alpha (FOLR1) protein in formalin-fixed, paraffin-embedded epithelial ovarian, fallopian tube, or primary peritoneal cancer tissue specimens by light microscopy.

Laboratory assay overview

The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells. The CALR (Calreticulin) gene encodes for a multifunctional calcium-binding protein involved in many cellular activities such as growth, proliferation, adhesion and programmed cell death. Among patients with JAK2- negative MPNs, CALR mutations are found in approximately 70% of patients with JAK2 -negative essential thrombocythemia (ET) and 60-88% of patients with JAK2 -negative primary myelofibrosis (PMF). Only a minority of patients (approximately 8%) with myelodysplasia have mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia or solid tumors. CALR mutations are not detected in polycythemia and generally appear to be mutually exclusive with JAK2 mutations and MPL mutations. The majority of mutational changes involve a variety of insertion or deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). Other mutations (non-type 1 or type 2) are seen in a small minority of cases. CALR mutations in PMF tend to be associated with a favorable prognosis compared to JAK2V617F mutations, whereas primary myelofibrosis negative for CALR, JAK2V617F and MPL mutations (so-called triple negative) is associated with a poor prognosis and shorter survival. The MPL (myeloproliferative leukemia virus oncogene) gene encodes the thrombopoietin receptor, which regulates hematopoiesis and megakaryopoiesis. Activating MPL mutations are associated with a subset of myeloproliferative neoplasms and acute megakaryoblastic leukemia. MPL W515 mutations are present in approximately 5-8% of patients with primary myelofibrosis (PMF) and 1-4% of patients with essential thrombocythemia (ET). The S505 mutation is detected in patients with hereditary thrombocythemia.

Laboratory assay overview

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess mutations in JAK2 exons 12, 13, 14 and 15. The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 mutation allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.

Laboratory assay overview

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). Mutations in the JAK2, MPL and CALR genes are present in virtually all MPNs and their presence help distinguish benign reactive processes from clonal neoplasms. These mutations are generally considered mutually exclusive, although concurrent clones have been reported in rare patients. The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. JAK2 mutation allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells. The CALR (Calreticulin) gene encodes for a multifunctional calcium-binding protein involved in many cellular activities such as growth, proliferation, adhesion and programmed cell death. Among patients with JAK2- negative MPNs, CALR mutations are found in approximately 70% of patients with JAK2-negative essential thrombocythemia (ET) and 60-88% of patients with JAK2-negative primary myelofibrosis(PMF). Only a minority of patients (approximately 8%) with myelodysplasia have mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia or solid tumors. CALR mutations are not detected in polycythemia and generally appear to be mutually exclusive with JAK2 mutations and MPL mutations. The majority of mutational changes involve a variety of insertion or deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). Other mutations (non-type 1 or type 2) are seen in a small minority of cases. CALR mutations in PMF tend to be associated with a favorable prognosis compared to JAK2V617F mutations, whereas primary myelofibrosis negative for CALR , JAK2V617F and MPL mutations (so-called triple negative) is associated with a poor prognosis and shorter survival. The MPL (myeloproliferative leukemia virus oncogene) gene encodes the thrombopoietin receptor, which regulates hematopoiesis and megakaryopoiesis. Activating MPL mutations are associated with a subset of myeloproliferative neoplasms and acute megakaryoblastic leukemia. MPL W515 mutations are present in approximately 5-8% of patients with primary myelofibrosis (PMF) and 1-4% of patients with essential thrombocythemia (ET). The S505 mutation is detected in patients with hereditary thrombocythemia.

Laboratory assay overview

The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3% to 5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. JAK2 mutation allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.

Laboratory assay overview

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). Mutations in the JAK2 , MPL and CALR genes are present in virtually all MPNs and their presence help distinguish benign reactive processes from clonal neoplasms. These mutations are generally considered mutually exclusive, although concurrent clones have been reported in rare patients. This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis, MPL mutation analysis, and JAK2 exon 12 to 15 mutation analysis if the JAK2V617F mutation is negative. The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells. The CALR (Calreticulin) gene encodes for a multifunctional calcium-binding protein involved in many cellular activities such as growth, proliferation, adhesion and programmed cell death. Among patients with JAK2- negative MPNs, CALR mutations are found in approximately 70% of patients with JAK2 -negative essential thrombocythemia (ET) and 60-88% of patients with JAK2 -negative primary myelofibrosis(PMF). Only a minority of patients (approximately 8%) with myelodysplasia have mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia or solid tumors. CALR mutations are not detected in polycythemia and generally appear to be mutually exclusive with JAK2 mutations and MPL mutations. The majority of mutational changes involve a variety of insertion deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). Other mutations (non-type 1 or type 2) are seen in a small minority of cases. CALR mutations in PMF tend to be associated with a favorable prognosis compared to JAK2V617F mutations, whereas primary myelofibrosis negative for CALR, JAK2V617F and MPL mutations (so-called triple negative) is associated with a poor prognosis and shorter survival. The MPL (myeloproliferative leukemia virus oncogene) gene encodes the thrombopoietin receptor, which regulates hematopoiesis and megakaryopoiesis. Activating MPL mutations are associated with a subset of myeloproliferative neoplasms and acute megakaryoblastic leukemia. MPL W515 mutations are present in approximately 5-8% of patients with primary myelofibrosis (PMF) and 1-4% of patients with essential thrombocythemia (ET). The S505 mutation is detected in patients with hereditary thrombocythemia.

Laboratory assay overview

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). Mutations in the JAK2 , MPL and CALR genes are present in virtually all MPNs and their presence help distinguish benign reactive processes from clonal neoplasms. These mutations are generally considered mutually exclusive, although concurrent clones have been reported in rare patients. This test will assess for the JAK2V617F (exon 14) mutation first and will reflex to CALR mutation analysis and MPL mutation analysis if the JAK2V617F mutation is negative. The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosis (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. JAK2 mutation allele burden correlates with clinical phenotype, with low levels of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells. The CALR (Calreticulin) gene encodes for a multifunctional calcium-binding protein involved in many cellular activities such as growth, proliferation, adhesion, and programmed cell death. Among patients with JAK2- negative MPNs, CALR mutations are found in approximately 70% of patients with JAK2 -negative essential thrombocythemia (ET) and 60-88% of patients with JAK2 -negative primary myelofibrosis (PMF). Only a minority of patients (approximately 8%) with myelodysplasia have mutations in the CALR gene. CALR mutations are rarely detected in patients with de novo acute myeloid leukemia, chronic myelogenous leukemia, lymphoid leukemia or solid tumors. CALR mutations are not detected in polycythemia and generally appear to be mutually exclusive with JAK2 mutations and MPL mutations. The majority of mutational changes involve a variety of insertion or deletion mutations in exon 9 of the calreticulin gene: approximately 53% of all CALR mutations are a 52 bp deletion (type-1) while the second most prevalent mutation (approximately 32%) contains a 5 bp insertion (type-2). Other mutations (non-type 1 or type 2) are seen in a small minority of cases. CALR mutations in PMF tend to be associated with a favorable prognosis compared to JAK2V617F mutations, whereas primary myelofibrosis negative for CALR , JAK2V617F and MPL mutations (so-called triple negative) is associated with a poor prognosis and shorter survival. The MPL (myeloproliferative leukemia virus oncogene) gene encodes the thrombopoietin receptor, which regulates hematopoiesis and megakaryopoiesis. Activating MPL mutations are associated with a subset of myeloproliferative neoplasms and acute megakaryoblastic leukemia. MPL W515 mutations are present in approximately 5-8% of patients with primary myelofibrosis (PMF) and 1-4% of patients with essential thrombocythemia (ET). The S505 mutation is detected in patients with hereditary thrombocythemia.

Laboratory assay overview

Molecular testing of blood or bone marrow is useful in the evaluation of suspected myeloproliferative neoplasms (MPN). This test will assess for the JAK2V617F (exon 14) mutation first and will reflex JAK2 exon 12 to 15 mutation analysis if the JAK2V617F mutation is negative. The JAK2 (Janus kinase 2) gene encodes for a non-receptor protein tyrosine kinase that activates cytokine and growth factor signaling. The V617F (c.1849 G>T) mutation results in constitutive activation of JAK2 and downstream STAT5 and ERK signaling. The V617F mutation is observed in approximately 95% of polycythemia vera (PV), 60% of essential thrombocythemia (ET) and primary myelofibrosismia (PMF). It is also infrequently present (3-5%) in myelodysplastic syndrome, chronic myelomonocytic leukemia and other atypical chronic myeloid disorders. A small percentage of JAK2 mutation-positive patients (3.3%) contain other non-V617F mutations within exons 12 to 15. In particular, mutations in exon 12 of JAK2 have been described in approximately 3% of patients with PV. JAK2 mutation allele of mutant allele characterized by thrombocytosis, intermediate levels with erythrocytosis and high mutant allele burden, correlating with enhanced myelopoiesis of the BM, leukocytosis, increasing spleen size and circulating CD34-positive cells.

Laboratory assay overview

Systemic mastocytosis (SM) is a hematopoietic neoplasm characterized by an abnormal growth of clonal mast cells in bone marrow and other extracutaneous organs. Tyrosine kinase inhibitors, such as imatinib and avapritinib, have been evaluated to treat systemic mastocytosis.

Laboratory assay overview

This test is used to aid diagnosis, prognostic risk assessment and therapeutic selection in lymphoid malignancies, including CLL (chronic lymphocytic leukemia), DLBCL, mantle cell lymphoma, follicular lymphoma, T cell lymphoma, hairy cell leukemia, lymphoblastic leukemias (B-ALL/T-ALL) and other lymphoma subtypes.

Laboratory assay overview

This test is used to aid diagnosis, prognostic risk assessment and therapeutic selection in hematologic malignancies.

Laboratory assay overview

This test is used to evaluate exposure to lead.

Laboratory assay overview

This test will detect chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. It will also allow the detection of complete or partial molar pregnancies.

Laboratory assay overview

For products of conception samples, this test will detect chromosomal imbalance that could be associated with developmental delay/congenital anomalies. It provides detection of possible uniparental disomy of any chromosome, the percent and location of homozygosity, including the degree of identity by descent. For oncology samples, this test will detect chromosomal imbalances that may be present in neoplastic disorders and clonal evolution. It provides detection of copy-neutral loss of heterozygosity of any chromosome, and the percent and location of homozygosity, that may be associated with cancer gene mutation.

Laboratory assay overview

This test is used for diagnostic testing and presymptomatic testing for family members.

Laboratory assay overview

The PD-L1 (SP263) is a qualitative assay intended for use in the detection of PD-L1 in formalin-fixed, paraffin embedded (FFPE) in non-small-cell lung cancer tissue samples using the Ventana BenchMark Ultra Platform.

Laboratory assay overview

The Dako PD-L1 22C3 pharmDx™ kit is a qualitative assay intended for use in the detection of PD-L1 in formalin-fixed, paraffin-embedded (FFPE) in epithelial ovarian, fallopian tube or primary peritoneal cancer tissues using the Dako Automated Link 48 platform.

Laboratory assay overview

PD-L1 overexpression is associated with adverse prognosis in solid tumors, though specific prognosis varies among different tumor types. The utility of this PD-L1 (22C3) assay in predicting the response to therapy has not been determined for all tumor types, and standardized scoring methods do not exist for all tumor types.

Laboratory assay overview

This profile is used to rule out chromosome abnormalities as a cause of miscarriage.

Laboratory assay overview

This test is used for diagnostic testing and presymptomatic testing for family members.

Laboratory assay overview

Telomerase reverse transcriptase (TERT) is the rate-limiting catalytic subunit of telomerase, which maintains telomere length. The two most commonly impacted sites for TERT promoter mutations are located 124 and 146 base pairs upstream from the translational start site, and generate C to T transitions (-124C>T and -146C>T). These two hotspots comprise 100% of the mutations reported in glioma, and >98% of the mutations detected in the TERT promoter across all tumor types. TERT promoter mutations create novel binding sites for ETS/TCF family of transcription factors such as GA Binding Protein Transcription Factor Subunit Alpha (GABPA) and increase TERT expression ~2-6 fold. The -146C>T mutation also creates a binding site for non-canonical NF-KB subunit p52 and ETS1/2. Somatic mutations in the TERT promoter have been shown to cause TERT upregulation in a wide range of solid cancers, including central nervous system tumors, melanoma, urothelial carcinoma, poorly differentiated and anaplastic thyroid carcinomas, cutaneous basal cell and squamous cell carcinomas, and hepatocellular carcinoma. In glioma and glioblastoma multiforme (GBM), the frequency of TERT promoter mutations varies by WHO grade. Assessment of TERT promoter mutation status, in addition to IDH mutations and 1p/19q co-deletion, could help refine the WHO 2016 classification of gliomas in diagnosis and allow for precise clinical management of the patients.

Laboratory assay overview

This test is used for prenatal diagnosis for pregnancies at risk for alpha-thalassemia. This analysis includes seven common alpha-thalassemia deletions (a-3.7, a-4.2, SEA, MED, THAI, FIL, and alpha-(20.5)), as well as the Constant Spring variant and the HS-40 regulatory region.