For many years, our laboratory has been helping to assess the state of the patient’s blood clotting system and determine the presence of its disorders associated with genetic pathologies. Blood clotting disorder is the process of disruption of the body’s ability to control the process of blood clot formation, resulting in a tendency to either bleeding (insufficient clotting) or thrombosis (excessive clotting).

Monitoring anticoagulants

Currently, the number of direct oral anticoagulants and direct thrombin inhibitors on the pharmacological market is growing. The growth of clinical use contributes to the need for monitoring anticoagulant therapy. Some drugs require constant monitoring, while others – only in certain clinical cases. Our laboratory can already offer some tests and will continue to expand the list.

Tests:

• APIXA | Apixaban, anti-Xa, plasma
• RIVAR | Rivaroxaban, anti-Xa, plasma

Next-generation gene sequencing

This method allows to detect the presence of nucleotide substitutions in genes, combined mutations in several genes simultaneously. The value of molecular genetic profile assessment is growing every year and provides the necessary data to clarify the prognosis of the disease and choose the optimal treatment regimen.

Tests:

• GNF7 | Factor VII deficiency, F7 gene, next-generation sequencing, varies
• GNF11 | Hemophilia C (factor XI deficiency), F11 gene, next-generation sequencing, varies
• GNF13 | Factor XIII deficiency, F13A1 and F13B genes, next-generation sequencing, varies
• GNFIB | Congenital fibrinogen disorders, FGA, FGB, and FGG genes, next-generation sequencing, varies
• GNHMA | Hemophilia A, F8 gene, next-generation sequencing, varies
• GNHMB | Hemophilia B, F9 gene, next-generation sequencing, varies
• GNANG | Hereditary angioedema-focused gene panel, next-generation sequencing, varies
• GNBLF | Bleeding disorders, targeted gene panel, next-generation sequencing, varies
• GNVWD | Von Willebrand disease, VWF and GP1BA genes, next-generation sequencing, varies
• GNBLC | Bleeding disorders, comprehensive gene panel, next-generation sequencing, varies
• GNADM | Hereditary thrombotic thrombocytopenic purpura, ADAMTS13 gene, next-generation sequencing, varies
• GNANT | Antithrombin deficiency, SERPINC1 gene, next-generation sequencing, varies
• GNPRC | Protein C deficiency, PROC gene, next-generation sequencing, varies
• GNPRS | Protein S deficiency, PROS1 gene, next-generation sequencing, varies
• GNTHR | Thrombotic disorders, comprehensive gene panel, next-generation sequencing, varies
• GNMY9 | MYH9-related disorders, MYH9 gene, next-generation sequencing, varies
• GNMTC | Macro/microthrombocytopenia gene panel, next-generation sequencing, varies
• GNHTC | Hereditary thrombocytopenia gene panel, next-generation sequencing, varies
• GNPFD | Platelet function defects gene panel, next-generation sequencing, varies
• GNSPD | Platelet storage pool deficiency gene panel, next-generation sequencing, varies
• GNPLT | Platelet disorders, comprehensive gene panel, next-generation sequencing, varies

Serotonin Release Assay

Platelets store and transport serotonin in high concentrations and release it upon activation. Abnormal serotonin release by platelets contributes to the development of thrombosis, myocardial infarction and stroke. This indicator is also the gold standard in the diagnosis of heparin-induced thrombocytopenia, as it has specificity and high sensitivity.

Tests:

• SRAU | Serotonin Release Assay, Unfractionated Heparin, Mass Spectrometry

Serum Blood Diseases

Our laboratory offers a systematic approach to diagnostics, regardless of whether the patient has an inherited or acquired blood disorder. We perform testing for factor deficiencies, von Willebrand disease profiles, platelet function assessments and inhibitor analysis. Research is carried out in the following areas: interference profiles, chromogenic factor tests, coagulation factor inhibitor profiles and next-generation gene sequencing.

Tests:

• ADIC | Disseminated Intravascular Coagulation/Intravascular Coagulation and Fibrinolysis (DIC/IVCF) Profile, Plasma
• ALBLD | Hemorrhagic Diathesis Profile, Limited, Plasma
• APROL | Prolonged Clotting Time Profile, Plasma
• AVWPR | Von Willebrand Disease Profile, Plasma
• CHF8 | Chromogenic Factor VIII Activity Assay, Plasma
• CH9 | Chromogenic Factor IX Activity Assay, Plasma
• INHE2 | Factor II Inhibitor Score, Plasma
• INHE5 | Factor V Inhibitor Score, Plasma
• INHE7 | Factor VII Inhibitor Score, Plasma
• INHE8 | Factor VIII Inhibitor Score, Plasma
• INHE9 | Factor IX Inhibitor Score, Plasma
• INE10 | Factor X inhibitor assessment, plasma
• INE11 | Factor XI inhibitor assessment, plasma

Platelet test

Platelets can’t divide, they are nuclear-free cells. So they are extremely important for stopping bleeding. Hereditary or acquired disorders of their functions usually manifest as hemorrhagic diathesis. Timely detection of deviations and timely treatment significantly affects the prognosis and life of the patient, and possibly his family members.

Tests:

• PTEM | Electron microscopic examination of platelet transfer, whole blood
• PLAFL | Platelet surface glycoprotein by flow cytometry, blood

Thrombophilia (hypercoagulation of blood)

A pathological condition characterized by a disorder of the blood coagulation system and an increased risk of thrombosis. It can be both hereditary and acquired. The causes are quite varied: from congenital hemostasis disorders to surgical interventions and prolonged immobilization. Algorithms developed by our laboratory staff together with hematologists and geneticists allow us to quickly and correctly diagnose and determine the etiological factors, on the basis of which an individual treatment regimen will be selected.

Tests:

• AATHR | Thrombophilia profile, plasma and whole blood
• APCRR | Activated protein C resistance V with factor V Leiden reflex, blood and plasma
• ALUPP | Lupus anticoagulant profile, plasma
• ADM13 | ADAMTS13 activity and inhibitor profile, plasma

Thrombotic microangiopathy

A group of diseases characterized by microangiopathic hemolytic anemia, thrombocytopenia and ischemic damage to target organs, most often the renal apparatus and central nervous system. The outcome and effectiveness of the selected therapy depend on the disease and its causes, which can be determined using a genetic panel.

Types of diseases that can be diagnosed in our laboratory:

• Congenital thrombotic thrombocytopenic purpura.
• Idiopathic thrombotic thrombocytopenic purpura.
• Gasser’s disease (hemolytic uremic syndrome).
• Transplant-associated thrombotic microangiopathy.
• Thrombotic microangiopathy against the background of other diseases (oncology, hypertension, systemic lupus erythematosus, antiphospholipid syndrome) or pregnancy.
• Atypical hemolytic uremic syndrome (aHUS). 

This panel can be used to monitor and assess eculizumab treatment if needed.

Tests:

• ADM13 | ADAMTS13 activity and inhibitor profile, plasma
• STFRP | Shiga toxin, molecular detection, PCR, faeces
• ECUMP | Eculizumab monitoring panel, serum
• AHUSD | Atypical hemolytic uremic syndrome complement panel, serum and plasma
• ECULI | Eculizumab, serum

This is a large and diverse group of diseases that are accompanied by some kind of dysfunction or structure of erythrocytes – red blood cells. With various pathologies, it is possible to change the number, color of cells, their shape, size. Since the variety of pathologies is quite large, hematologists and geneticists of our laboratory will tell you which tests to choose for optimal diagnostics.

Tests and their advantages:

• EEEV1 | Evaluation of erythrocyte enzymes, blood

Targeted diagnostics of hemolytic anemia caused by defects in erythrocyte enzymes.

• HAEV1 | Evaluation of hemolytic anemia, blood

A genetic panel that includes all tests for the presence of non-immune (Coombs-negative) hemolytic anemia, including pathologies of the functions and membranes of erythrocytes, as well as changes in hemoglobin.

• HBEL1 | Hemoglobin Electrophoresis Assessment, Blood

A diagnostic test for thalassemias and hemoglobinopathies characterized by structural abnormalities of hemoglobin.

• HGBCE | Hemoglobin Variant Assessment, A2 and F Quantification,

Blood Monitoring of patients with sickle cell disease who have received hydroxyurea or transfusion therapy.

• MEV1 | Methemoglobinemia Assessment,

Blood Diagnosis of methemoglobinemia and sulfhemoglobinemia and their possible hereditary causes. Makes it possible to separate these diseases from other similar ones  (e.g., congenital heart disease).

• RBCME | Red Blood Cell Membrane Assessment, Blood 

Investigation of suspected red blood cell membrane disorders such as hereditary spherocytosis or hereditary pyropoikilocytosis. This test is not useful in hereditary elliptocytosis.

• THEV1 | Thalassemia and Hemoglobinopathies Assessment, 

Blood and Serum Microcytosis assessment (hemoglobin E or Lepore). It is a diagnostic method that allows to anderstand how  hemoglobinopathies or thalassemia can be  classifies. It is comprehensive and economical method

Diagnosis of hereditary persistence of hemoglobin.

• NHHA | Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Variable

This study is being used to determine single nucleotide variants and copy number in 37 genes by DNA sequencing because it is associated with hereditary hemolytic anemia.

Perform a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red cell membrane/hydration disorders, red cell enzymopathies, and congenital dyserythropoietic anemia.

Comprehensive testing of patients who have previously tested negative for a specific hereditary hemolytic anemia on targeted gene variants.

Establishing a diagnosis of hereditary hemolytic anemia or a related disorder, allowing appropriate treatment and monitoring for signs of pathology based on the gene involved, especially if splenectomy is being considered.

Additional Next Generation Tests:

• NCDA | Congenital Dyserythropoietic Anemia Gene Panel, Next Generation Sequencing, Variable
• NCYB | Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next Generation Sequencing, Variable
• NENZ | Red Blood Cell Enzyme Disorders Gene Panel, Next Generation Sequencing, Variable
• NHEM | Hereditary Erythrocytosis Focused Gene Panel, Next Generation Sequencing, Variable
• NHEP | Hereditary Erythrocytosis Gene Panel, Next Generation Sequencing, Variable
• NMEM | Red Blood Cell Membrane Disorders Gene Panel, Next Generation Sequencing, Variable

Lymphoid Neoplasms

These are a heterogeneous group of malignancies that arise from different cell types in the lymphoid tissue. They are considered challenging to diagnose and recognize.

Diffuse B-cell lymphoma

Different types have different degrees of malignancy, prognosis and symptoms vary greatly. It is with the help of genetic tests that it is possible to clarify the tumor subtype and prognosis for the patient, as well as select an individual treatment regimen.

Lymph3Cx (PM3CX) test is a gene expression analysis performed on RNA isolated from biopsy material, fixed or filled with formalin, using digital counting of fluorescent barcoded probes. It is intended for patients with large B-cell lymphoma to differentiate its subtype: primary mediastinal or diffuse.

Benefits of the test:

• Molecular gene expression provides a reliable and accurate diagnosis.
• Helps differentiate tumor subtypes.
• Gene expression analysis occurs without an additional step of DNA synthesis.
• High accuracy and reduced time for manual processing of results.
• Consultation with a highly specialized pathologist.

Tests:

BLPMF | B-cell lymphoma determined by FISH

BLYM | B-cell lymphoma, FISH, tissue

CD273 | Immunohistochemical staining of CD273 (PD-L2), technical component only

MALI | Immunohistochemical staining of MAL, technical component only

PATHC | Consultation with a pathologist

PM3CX | Lymph3Cx analysis, primary mediastinal large B-cell lymphoma and diffuse large B-cell lymphoma, mRNA gene expression, NanoString, tissue

Acute lymphoblastic leukemia

This is the most common form of childhood cancer – 70% of all cases of leukemia in children aged 0 to 19 years. The debut of the disease is most often observed at the age of 2 to 5 years. The second peak is in adults aged 50-55 years. There is such a thing as leukemia with a positive Philadelphia chromosome (abnormal chromosome 22). A gene alteration is characterized by uncontrolled cell division that provokes growth. Caused by the hybrid gene BCR-ABL1 Due to these features, tyrosine kinase causes genetic rearrangements in a number of gene regions. Identification of such rearrangements allows you to select targeted therapy that will give a positive response.

Tests and their advantages:

• BALAF | B-cell acute lymphoblastic leukemia/lymphoma, FISH, adult, varies

Performed on patients 31 years and older with B-cell acute lymphoblastic leukemia/lymphoma.

• BALPF | B-cell acute lymphoblastic leukemia/lymphoma, pediatric, FISH, varies

Performed on patients 30 years and younger with B-cell acute lymphoblastic leukemia/lymphoma.

• BALMF | B-cell acute lymphoblastic leukemia/lymphoma, FISH, vary

Any set of tests from the BALAF, BALPF, or PHLDF panels.

• BLBLF | B-cell lymphoblastic leukemia/lymphoma, FISH, tissue 

The biomaterial is paraffin-embedded tissue. The panel is determined by the patient’s age.

• PHLDF | Acute Lymphoblastic Leukemia Philadelphia Chromosome-Like FISH Varies

Detection of a neoplastic clone associated with acute lymphoblastic leukemia Philadelphia chromosome-like, particularly when the classic abnormality is not detected on the initial panel. If the diagnosis does not require the application of the entire panel, patient can select the necessary ones from  BALMF

• TALAF | T-Cell Acute Lymphoblastic Leukemia/Lymphoma FISH Adult Varies

Performed in patients 31 years and older with T-cell acute lymphoblastic leukemia/lymphoma.

• TALPF | T-Cell Acute Lymphoblastic Leukemia/Lymphoma FISH Pediatric

Varies Performed in patients 30 years and younger with T-cell acute lymphoblastic leukemia/lymphoma.

• TALMF | T-cell acute lymphoblastic leukemia/lymphoma, FISH, variable

Any test set from the TALAF or TALPF panels.

• CILPF | Congenital childhood leukemia, FISH, tissue

Detection of a neoplastic clone associated with common chromosomal abnormalities and classic rearrangements seen in infants with leukemia, using tissue samples.

• CHRBM | Chromosomal analysis, hematological disorders, bone marrow

Diagnosis and classification of selected hematological malignancies in bone marrow samples. Monitoring treatment. Assessing prognosis. Following up on patients in remission.

Chronic lymphocytic leukemia

This is a group of lymphoid tumors that most often occur in adulthood. The pathology may not give symptoms for a long time, so genetic testing will be very useful. Testing is based on the determination of biomarkers of chronic lymphocytic leukemia, including IGHV and TP53 mutations.

Tests:

• SLL | Small lymphocytic lymphoma, FISH, tissue
• BCLL | Somatic hypermutation analysis of IGH, B-cell chronic lymphocytic leukemia, varies
• P53CA | Hematological neoplasms, somatic mutation TP53, DNA sequencing of exons 4-9, varies
• CLLMD | Chronic lymphocytic leukemia monitoring, detection of minimal residual disease, flow cytometry, varies

T-cell lymphoma

It is an aggressive lesion of the immune system. This is a type of non-Hodgkin’s lymphoma that belongs to the group of peripheral T-cell lymphomas. Diagnosis can be difficult, as there are more than 30 known subtypes of the disease. Our team of hematopathologists has extensive experience in working with these patients and has been consulting with them for many years all over the world.

Benefits of the test:

• You can order any set of tests from each offered panel or the entire TLP panel at once.
• Paraffin-embedded tissue is used as biomaterial.
• Receive advice from a highly specialized pathologist.

Tests:

• TLPDF | T-cell lymphoma, diagnostic FISH, varies
• TLPMF | T-cell lymphoma, specific FISH, varies
• TLYM | T-cell lymphoma, FISH, tissue
• PATHC | Pathologist consultation

Eosinophilia

Lymphoid and myeloid tumors accompanied by eosinophilia are rare and diverse in their manifestations hematological malignancies, which are characterized by the rearrangement of a number of genes causing the formation of tyrosine kinase.

Test advantages:

• You can order any set of tests from each offered panel or the entire EOS panel at once.
• Receive a consultation with a highly specialized pathologist.

Tests:

• EOSDF | Chronic eosinophilia, diagnostic FISH, varies
• EOSMF | Chronic eosinophilia, specific FISH, varies

Plasma cell neoplasms

Generally plasma cell neoplasms represent a whole group of pathologies. This group includes various diagnoses: from multiple myeloma to amyloidosis and monoclonal gammopathy. 

Amyloidosis

Test that allow to identificate amyloid protein most often used in case of suspicion of this disease.

Test advantages:

• It has 100% specificity and 98% sensitivity. • It uses histological staining/liquid chromatography methods. Tandem mass spectrometry. All types of amyloids are identified in one test.

Tests:

• AMPIP | Amyloid protein identification, paraffin, mass spectrometry

MASS-FIX (MALDI-TOF MS)

Early detection of diseases in patients with plasma cell pathologies contributes to better treatment outcome and prognosis. Our laboratory uses matrix-assisted laser desorption/ionization time-of-flight mass spectrometry MASS-FIX, which is a major breakthrough in multiple myeloma testing.

Tests and their advantages:

• DMOGA | Monoclonal gammopathy, diagnostic, serum

Test time: 2 days. Evaluation of the possibility of monoclonal gammopathy of unknown etiology transforming into multiple myeloma.

• SPEP | Electrophoresis, protein, serum

Test time: 2-5 days. Diagnostics of monoclonal gammopathy using MALDI-TOF MS and free light chain analysis.

• MSMRT | Mayo Algorithmic Approach to Myeloma 

Stratification and Risk-Adapted Therapy Report, Bone Marrow

Risk stratification in patients with previously treated first diagnosed multiple myeloma to guide treatment and follow-up decisions. 

• MFCDF | Myeloma, high risk with reflex probes, FISH diagnostic evaluation, fixed-cell sediment

Any high-risk MFC panel is performed.

• PCPDS | Plasma Cell Proliferative Disease, high risk with reflex probes, FISH diagnostic evaluation, bone marrow

Any high-risk PCPD panel is performed.

• SMPU | Monoclonal Protein Assay, 24-hour, urine

Test time: 4-6 days. Monitoring of patients with monoclonal gammopathies. Using mass fixation, the laboratory is faced with the task of evaluating the urine for M-proteins presence. If the result is positive, it will be necessary to conduct protein electrophoresis. This costs extra, but allows to determine the result completely and in a short time.

• RSMPU | Monoclonal Protein Screening, Random, Urine

Test time: 4-6 days. Using mass fixation, the laboratory is faced with the task of evaluating the urine for M-proteins presence. If the result is positive, it will be necessary to conduct protein electrophoresis. This costs extra, but allows to determine the result completely and in a short time.

 A random urine sample is collected.

• TMOGA | Monoclonal Gammopathy, Monitoring, Serum

Test time: same day/1 day. To determine whether changes in IgG kappa chain mass are due to monoclonal treatment or residual disease.

• MALD | M-protein isotype, matrix-assisted laser desorption ionization time-of-flight mass spectrometry, serum

Date: same day/1 day. Protein electrophoresis and free light chain testing with MASS-FIX.

• MRDMM | Multiple myeloma, minimal residual disease, flow cytometry, bone marrow

Flow cytometry test for detection of minimal residual myeloma cells after therapy.

Diagnosis and treatment of this disease are quite complex and before starting treatment it is necessary to have a complete picture. Our laboratory offers an extensive panel of molecular genetic tests based on the following methods: cytometry, chromosome, ELISA, etc. Patients receive not only diagnostic results, but also expert advice from highly specialized specialists.

We provide the following services:

• comprehensive panel;
• oncogenes of myeloid neoplasms;
• two subpanels dedicated to acute myeloid leukemia;
• ELISA panels;
• molecular analysis combining reverse transcription, real-time PCR (RT-PCR) technology and DNA-based fragment analysis to assess minimal residual disease.

Acute myeloid leukemia

Is a malignant tumor of the myeloid blood lineage, in which altered leukocytes rapidly multiply. Determining the presence and nature of gene mutations in patients with this pathology helps doctors choose the right treatment and make prognoses. Some myeloid tumors have a normal karyotype, but can be differentiated by a comprehensive gene mutation profile.

Test advantages:

• Performed on patients 30 years and younger with acute myeloid leukemia.
• ​Any of the assays in the AMLAF or AMLPF panels can be ordered through the AMLMF.
• Performed on patient samples 18 months and younger patient samples.

Tests:

• AMLPF | Pediatric FISH Panel
• AMLMF | Specific FISH Panel
• CILPF | Congenital Infantile Leukemia, FISH, Tissue
• CHRBM | Chromosomal Analysis, Hematological Diseases, Bone Marrow
• MYEFL | Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow
• NGSHM | Complete Myeloid Neoplasms, Comprehensive Next-Generation Oncoheme Sequencing, Varies

Minimal Residual Disease

Characterized by a small number of leukemia cells that remain in the body after remission has been achieved.

Test advantages:

• Is a specific monitoring marker.
• Ability to make a prognosis for patients with newly diagnosed acute myeloid leukemia with a normal karyotype and no FLT3-ITD.
• Tests are performed on both RNA and DNA.
• High-quality DNA-based analysis of NPM1 exon 11 mutations using fragment analysis that identifies virtually all variant forms of acute myeloid leukemia, including rare forms.

Tests:

• NPM1Q | Nucleophosmin (NPM1) mutation analysis, Varies
• IN16Q | CBFB:MYH11 Inversion(16), Quantitative Minimal Disease Risk Detection and Monitoring, qRT-PCR, Varies
• T821Q | RUNX1-RUNX1T1 Translocation (8;21), Minimal Residual Disease Monitoring, Quantitative, Varies

Specialty Tests

• NGSHM | MayoComplete, Myeloid Neoplasms, Comprehensive Next-Generation Oncoheme Sequencing, Varies

Scores 47 genes to provide insight into myeloid malignancies for diagnosis or to predict potential relapse. Helps determine diagnostic classification. Evaluates patients with suspected VEXAS syndrome.

• NGAML | MayoComplete, Acute Myeloid Leukemia, 11-Gene Panel, Varies

Scores acute myeloid leukemia using an 11-gene panel at diagnosis or at relapse to classify and guide therapeutic approaches.

• NGAMT | MayoComplete, Acute Myeloid Leukemia, Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next Generation Sequencing, Varies

Assessment of acute myeloid leukemia using a 4-gene panel at diagnosis or at relapse to classify and guide therapeutic approaches.

• NGSFX | Acute Myeloid Leukemia 4- or 11-Gene Panel Reanalysis, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel has been previously performed in this lab.

Additional Tests:

• CHRBM | Chromosomal Analysis, Hematological Diseases, Bone Marrow • FLT | FLT3 Mutation Analysis, Varies
• IDHQ | IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies
• MYEFL | Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow

Eosinophilia

Lymphoid and myeloid tumors with eosinophilia are rare and diverse hematological malignancies characterized by rearrangement of several genes that cause the formation of tyrosine kinase.

Test Benefits:

• You can order any set of tests from each offered panel or the entire EOS panel at once.
• Receive advice from a highly specialized pathologist.

Tests:

EOSDF | Chronic eosinophilia, diagnostic FISH, varies

EOSMF | Chronic eosinophilia, specific FISH, varies

Myelodysplastic syndrome

It is considered one of the most challenging problems in hematology today. It is a group of heterogeneous clonal diseases accompanied by cytopenia in the peripheral blood, dysplasia in the bone marrow and a high risk of transition to acute leukemia. Such patients are diagnosed at regular intervals.

Tests:

• MDSDF | Myelodysplastic syndrome, diagnostic FISH, varies
• MDSMF | Myelodysplastic syndrome, specific FISH, varies
• IDHQ | Quantitative detection of IDH1 (R132) and IDH2 (R140 and R172), droplet digital PCR, varies NGSHM | MayoComplete, myeloid neoplasms, comprehensive next-generation oncogene sequencing, varies 

Myeloproliferative neoplasms

Rare neoplasms of the blood system that manifest themselves in abnormal production of blood cells by stem cells in the bone marrow. They are classified as tumor processes, but can be both benign and malignant. This group includes chronic myelogenous leukemia, true polycythemia, essential thrombocythemia, and primary myelofibrosis.

Chronic myelogenous leukemia is characterized by the formation of a hybrid gene BCR-ABL1. At the chromosomal level, this anomaly is called the Philadelphia chromosome (abnormal chromosome 22). In this case, the BCR-ABL1 test is a valuable diagnostic indicator. Our specific BCRFX panel is used, which detects rare forms of gene fusion.

Tests:

• BCRFX | BCR/ABL1 qualitative diagnostic assay with reflex to BCR/ABL1 p190 quantitative assay or BCR/ABL1 p210 quantitative assay, varies
• BADX | BCR/ABL1, qualitative, diagnostic assay, varies
• BCRAB | BCR/ABL1, p210, mRNA detection, reverse transcription-PCR (RT-PCR), quantitative, chronic myeloid leukemia monitoring, varies
• BA190 | BCR/ABL1, p190, mRNA detection, reverse transcription-PCR (RT-PCR), quantitative, monitoring assay, varies
• BAKDM | BCR/ABL1, tyrosine kinase inhibitor resistance, kinase domain mutation screening, Sanger sequencing, varies
• MPNR | Myeloproliferative neoplasm, JAK2 V617F with reflex to CALR and MPL, varies
• MPNCM | Myeloproliferative neoplasm, CALR with reflex to MPL, varies
• PVJAK | Polycythemia vera, JAK2 V617F with reflex to JAK2 exons 12-15, sequencing for erythrocytosis, varies
• JAKXB | Detection of JAK2 exon 12 and other mutations other than V617F, blood
• JAKXM | Detection of JAK2 exon 12 and other mutations other than V617F, bone marrow

Our molecular genetic testing panels provide the highest quality answers available today. Next generation sequencing provides the best technical resolution of clinical variants, providing accurate information for diagnosis, treatment selection, and prognosis. MayoComplete – a comprehensive 47-gene model and its targeted subpanels allow you to select the exact tests needed for each individual case.

• NGSHM | MayoComplete, Myeloid Neoplasms, Comprehensive Oncoheme Next Generation Sequencing, Variable

Evaluation of 47 genes to provide insight into myeloid malignancies for diagnosis or prediction of possible relapse. Assistance in determining diagnostic classification. Evaluation of patients with suspected VEXAS syndrome. We can also perform independent FLT and IDHQ testing upon recommendation.

• NGAML | MayoComplete Acute Myeloid Leukemia 11-Gene Panel, Varies

Assessment of acute myeloid leukemia using an 11-gene panel at diagnosis or at relapse to classify and guide therapeutic approaches.

• NGAMT | MayoComplete Acute Myeloid Leukemia Therapeutic Gene Mutation Panel (FLT3, IDH1, IDH2, TP53), Next-Generation Sequencing, Varies

Assessment of acute myeloid leukemia using a 4-gene panel at diagnosis or at relapse to classify and guide therapeutic approaches.

• NGSFX | Acute Myeloid Leukemia 4- or 11-Gene Panel Reanalysis, Additional Genes

Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel has been previously performed in this laboratory.

Additional Tests:

• CHRBM | Chromosomal Analysis, Hematological Disorders, Bone Marrow • FLT | FLT3 Mutation Analysis, Varies
• IDHQ | IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies
• MYEFL | Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow