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Test Catalog
RBCME - Overview: Red Blood Cell Membrane Evaluation, Blood
Investigation of suspected red cell membrane disorders, such as hereditary spherocytosis or hereditary pyropoikilocytosis This test is not useful for hereditary elliptocytosis.
TTGG - Overview: Tissue Transglutaminase Antibody, IgG, Serum
Individuals with IgA deficiency Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous...
TTGA - Overview: Tissue Transglutaminase Antibody, IgA, Serum
Assessment of tissue transglutaminase IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...
TSTGP - Overview: Tissue Transglutaminase Antibodies, IgA and IgG Profile, Serum
Evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family history, previous diagnosis with associated disease,...
DHES1 - Overview: Dehydroepiandrosterone Sulfate, Serum
Diagnosis and differential diagnosis of hyperandrogenism (in conjunction with measurements of other sex steroids) An adjunct in the diagnosis of congenital adrenal hyperplasia Diagnosis and differential diagnosis of premature adrenarche
RFAMA - Overview: Renal Function Panel, Serum
Aiding in diagnosis and management of conditions affecting kidney function General health screening Screening patients at risk of developing kidney disease Management of patients with known kidney disease
RBART - Overview: Bartter Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Bartter syndrome Establishing a diagnosis of Bartter syndrome
Diagnostic workup of patients with high probability of BCR::ABL1-positive hematopoietic neoplasms, predominantly chronic myeloid/myelogenous leukemia and acute lymphoblastic leukemia
BAP1Z - Overview: BAP1-Tumor Predisposition Syndrome, BAP1 Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of BAP1-tumor predisposition syndrome (BAP1-TPDS) Establishing a diagnosis of BAP1-TPDS allowing for targeted cancer surveillance based on associated risks Identifying...
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid
Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia
Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...
PKLRZ - Overview: PKLR Full Gene Analysis, Varies
Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...
NGSFX - Overview: Reanalysis of Acute Myeloid Leukemia 4- or 11- Gene Panels, Additional Genes
Comprehensive reanalysis of a larger set of genes/gene regions when a more targeted gene panel was previously performed in this laboratory Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute...
SMN1Z - Overview: SMN1 Gene, Full Gene Analysis, Varies
Confirming a diagnosis of spinal muscular atrophy due to nucleotide variants in SMN1 gene Second-tier carrier screening when there is a family history of spinal muscular atrophy, but an affected individual is not available for testing, or...
CMPRE - Overview: Family Member Comparator Specimen for Exome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole exome sequencing
CPVTG - Overview: Catecholaminergic Polymorphic Ventricular Tachycardia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of catecholaminergic polymorphic ventricular tachycardia (CPVT) Establishing a diagnosis of CPVT
EDSGG - Overview: Ehlers-Danlos Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Ehlers-Danlos syndrome and related conditions Establishing a diagnosis for Ehlers-Danlos syndrome, X-linked occipital horn syndrome, X-linked...
AHUSD - Overview: Atypical Hemolytic Uremic Syndrome Complement Panel, Serum and Plasma
Detecting deficiencies in the alternative pathway that can cause atypical-hemolytic uremic syndrome, dense deposit disease, and C3 glomerulonephritis A second-tier test that aids in the differential diagnosis of thrombotic...
INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.
PHI11 - Overview: Prostate Health Index Reflex, Serum
As an aid in distinguishing prostate cancer from benign prostatic conditions in men aged 50 years and older with total PSA between 4.0 and 10.0 ng/mL and digital rectal examination findings that are not suspicious for cancer
CMAMA - Overview: Comprehensive Metabolic Panel, Serum
Routine health monitoring Patient monitoring while hospitalized for information regarding metabolism, including the current kidney status, electrolyte and acid/base balance, and blood glucose
Human papillomavirus (HPV) screening for average-risk, asymptomatic individuals who are eligible for primary HPV testing, have barriers to a speculum exam for a clinician-collected cervical sample for screening, and who are able to...
MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with motor neuron disease Identifying variants within genes known to be associated with motor neuron disease, allowing for predictive testing of at-risk family members
Detection of high-risk (HR) genotypes associated with the development of cervical cancer Aids in triaging women with abnormal Pap smear results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results of...
Detecting high-risk (HR) genotypes associated with the development of cervical cancer Aiding in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18 if present Results...
PBCPN - Overview: Primary Biliary Cholangitis Antibody Panel, Serum
Evaluation of at-risk or previously diagnosed primary biliary cholangitis patients with new features of other liver diseases or systemic autoimmune diseases
DHRP - Overview: Dihydrorhodamine Flow Cytometric Phorbol Myristate Acetate Test, Blood
Evaluating chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function post-hematopoietic cell...
Only indicated for formalin-fixed paraffin-embedded specimens from patients diagnosed with large B-cell lymphoma
MSAES - Overview: Myositis Specific Antibody Evaluation, Serum
Accurately diagnosing, classifying, and managing idiopathic inflammatory myopathies (IIM) by identifying subtype-specific biomarkers that guide prognosis and treatment Enabling early detection of IIM, particularly in atypical or severe...
VHLZZ - Overview: Von Hippel Lindau Syndrome, VHL, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Von Hippel-Lindau (VHL) syndrome Establishing a diagnosis of a VHL allowing for targeted cancer surveillance based on associated risks Identifying genetic variants...
DD22F - Overview: 22q11.2 Deletion/Duplication, FISH, Varies
Establishing a diagnosis of 22q deletion/duplication syndromes Detecting cryptic rearrangements involving 22q11.2 or 22q11.3 that are not demonstrated by conventional chromosome studies
SSCP - Overview: Systemic Sclerosis Criteria Panel, Serum
Evaluating patients with antinuclear antibody-associated connective tissue disease, specifically systemic sclerosis
HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies
Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members
CMPRG - Overview: Family Member Comparator Specimen for Genome Sequencing, Varies
Submitting a biological family member's specimen to be used as a comparator for affected patients (probands) undergoing whole genome sequencing
INFXP - Overview: Infliximab Quantitation with Antibodies to Infliximab, Serum
Trough level quantitation for evaluation of patients undergoing therapy with infliximab for proactive or reactive therapeutic drug monitoring.
PHEGP - Overview: Phenylalanine Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a phenylalanine disorder Establishing a molecular diagnosis for patients with phenylalanine disorders Identifying variants within genes known to be associated with phenylalanine...
PDGP - Overview: Peroxisomal Disorder Gene Panel, Varies
Follow up of abnormal biochemical result, usually very long-chain fatty acid test consistent with peroxisomal disorder Establishing a molecular diagnosis for patients with peroxisomal disorders Identifying variants within genes known to...
TRECS - Overview: T-Cell Receptor Excision Circles Analysis, Blood
Measuring T-cell output or reconstitution (thymopoiesis) following hematopoietic cell transplantation or highly active antiretroviral therapy Evaluating thymic function in patients with cellular or combined inborn errors of immunity...
KETGP - Overview: Ketone Disorders Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a ketone disorder Establishing a molecular diagnosis for patients with ketone disorders Identifying variants within genes known to be associated with ketone disorders, allowing for...
AVWPR - Overview: von Willebrand Disease Profile, Plasma
Detection of deficiency or abnormality of von Willebrand factor (VWF) and related deficiency of factor VIII coagulant activity Subtyping von Willebrand disease (VWD) as type 1 (most common), type 2 variants (less common), or type 3...
GSDGP - Overview: Glycogen Storage Disease Gene Panel, Varies
Follow up of abnormal biochemical results consistent with glycogen storage disease (GSD) Establishing a molecular diagnosis for patients with GSD Identifying variants within genes known to be associated with GSD allowing for predictive...
CFSMN - Overview: Cystic Fibrosis and Spinal Muscular Atrophy Carrier Screen Panel, Varies
Reproductive risk refinement via carrier screening for individuals in the general population for cystic fibrosis (CF) and spinal muscular atrophy (SMA). Reproductive risk refinement via carrier screening for individuals with a family...
RPDE - Overview: Rapidly Progressive Dementia Evaluation, Spinal Fluid
Evaluation of individuals presenting with rapidly progressive dementia of uncertain disease etiology and a differential diagnosis of Creutzfeldt-Jakob disease and rapidly progressive Alzheimer disease
DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood
Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...
Evaluation of known or suspected hematologic neoplasms, specifically of myeloid origin (eg, acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasm, myelodysplastic/myeloproliferative neoplasm, unexplained cytopenias)...
TSCP - Overview: Tuberous Sclerosis Gene Panel, Varies
Establishing a molecular diagnosis in individuals with features of tuberous sclerosis complex (TSC). Identifying pathogenic variants within the TSC1 and TSC2 genes known to be associated with TSC, allowing for predictive testing of at-risk...
GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies
Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status
HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...
IMSNP - Overview: Inherited Motor and Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary motor and sensory neuropathy (HMSN) or Charcot-Marie-Tooth (CMT) disease Identifying variants within genes known to be associated with HMSN or CMT disease, allowing for...
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Alpha-gal testing [Test in Focus] - Insights
allergy to the alpha-gal molecule, and he describes a new allergen antibody test that can be used to detect it. Dr. Bornhorst also reviews other tests that should be used in conjunction with alpha-gal testing...
MCL Second Trimester Maternal Screening AlphaFetoprotein Quad Screen Patient Information MC1235123
AlphaFetoprotein Quad Screen Patient Information Complete print Reset Form Trimester Maternal Screening Alpha Fetoprotein Quad Screen Patient Information Patient Information required Patient...
Alpha1 Antitrypsin—A Comprehensive Testing Algorithm A1AT serum level and proteotype Order A1ALC / Alpha-1-Antitrypsin Proteotype S/Z by LC-MS/MS, Serum incl......
Neuroimmunology: Updates and antibody test utilization - Insights
In this month’s “Hot Topic,” Andrew McKeon, M.B., B.Ch., M.D., reviews the use of neurological phenotype-based evaluations, the move away from the paraneoplastic evaluation, and upcoming changes to test...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...