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Test Catalog
NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies
Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...
PRKSG - Overview: PRKAR1A Full Gene Sequencing with Deletion/Duplication, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Carney Complex (CNC) or acrodysostosis-1 with hormone resistance Establishing a diagnosis of CNC or acrodysostosis-1 with hormone resistance
GNSPD - Overview: Platelet Storage Pool Deficiency Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary platelet storage pool deficiencies in patients with a personal or family history suggestive of a hereditary platelet storage pool deficiency Diagnosing hereditary platelet storage pool deficiencies for patients in...
GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies
Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...
ESTF - Overview: Estrogens, Estrone (E1) and Estradiol (E2), Fractionated, Serum
Simultaneous high-sensitivity determination of serum estrone and estradiol levels Situations requiring either higher sensitivity estradiol measurement, estrone measurement, or both, including -As part of the diagnosis and workup of...
GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies
Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...
A second-level test after lymphocyte proliferation to mitogens (specifically phytohemagglutinin) has been assessed Evaluating patients suspected of having impairment in cellular immunity Evaluation of T-cell function in patients with...
TALMF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), Specified FISH, Varies
Detecting recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) using client-specified probes An adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...
WESR - Overview: Whole Exome Sequencing Reanalysis, Varies
Identifying a diagnosis or additional variants associated with the phenotype in patients who previously have had a negative or inconclusive whole exome sequencing test Reanalyzing whole exome sequencing data when a patient (proband)...
PCDEC - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Spinal Fluid
Evaluating children with autoimmune central nervous system disorders using spinal fluid specimens
SQTSG - Overview: Short QT Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of short QT syndrome Establishing a diagnosis of short QT syndrome
EPPAN - Overview: Comprehensive Epilepsy With or Without Encephalopathy Gene Panel, Varies
Establishing a diagnosis of an epilepsy or seizure disorder associated with known causal genes Identifying disease-causing variants within genes known to be associated with inherited epilepsy or seizure disorders, allowing for predictive...
CSMPU - Overview: Controlled Substance Monitoring Panel, Random, Urine
Detecting drug use involving stimulants, barbiturates, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.
Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.
LCMS - Overview: Leukemia/Lymphoma Immunophenotyping, Flow Cytometry, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia (ALL) from acute myeloid leukemia (AML) Immunologic...
BALAF - Overview: B-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with B-cell acute lymphoblastic leukemia/lymphoma (B-ALL/LBL) and Philadelphia chromosome-like acute lymphoblastic leukemia (Ph-like ALL) in adult patients As...
GNBLF - Overview: Bleeding Disorders, Focused Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary bleeding in patients with a personal or family history suggestive of a hereditary bleeding disorder and initial laboratory testing results are suggestive for factors VII, VIII, IX, or XI deficiency, or a von Willebrand...
ACC - Overview: Adrenal Mass Panel, 24 Hour, Urine
Aiding in assessing malignancy in adrenal masses May aid in improving diagnostic and prognostic prediction and dissect disease mechanisms for the following applications: -Diagnostic assessment and follow up of adrenal cortical...
GNHTC - Overview: Hereditary Thrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary thrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary thrombocytopenia disorder Diagnosing hereditary thrombocytopenia disorders for patients in whom phenotypic testing is...
GNHMA - Overview: Hemophilia A, F8 Gene, Next-Generation Sequencing, Varies
Confirming a clinical diagnosis of hemophilia A in affected male patients with the identification of a disease-causing variant in the F8 gene Determining the disease-causing alteration within the F8 gene to delineate the underlying...
Evaluating congenital fibrinogen disorders (CFD) in patients with a personal or family history suggestive of a fibrinogen disorder Confirming a CFD diagnosis with the identification of known or suspected disease-causing alterations in the...
NEPHP - Overview: Comprehensive Nephrology Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary kidney disease Establishing a diagnosis for a variety of hereditary kidney conditions including focal segmental glomerulosclerosis,...
GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...
LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot
First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...
TTFB - Overview: Testosterone, Total, Bioavailable, and Free, Serum
Second- or third-order test for evaluating testosterone status (eg, when abnormalities of sex hormone-binding globulin are present)
SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies
Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...
Screening for cervical carcinoma or intraepithelial lesions and the presence or absence of high-risk human papillomavirus (HR-HPV) when screening women aged 30 to 65 years for possible cervical neoplasia Aiding in triaging women with...
TALPF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Pediatric, Varies
Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in pediatric/young adult patients As an adjunct to conventional chromosome studies in pediatric/young...
GNVWD - Overview: von Willebrand Disease, VWF and GP1BA Genes, Next-Generation Sequencing, Varies
Evaluating von Willebrand disease and platelet-type von Willebrand disease in patients with a personal or family history suggestive of von Willebrand disease Confirming von Willebrand disease or platelet-type von Willebrand disease...
ALAGP - Overview: Alagille Syndrome Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of Alagille syndrome Establishing a diagnosis of Alagille syndrome
CARGG - Overview: Comprehensive Arrhythmia Gene Panel, Varies
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Establishing a diagnosis of a hereditary form of cardiac arrhythmia
Evaluation of pediatric bone marrow and peripheral blood specimens by fluorescence in situ hybridization probe analysis for classic rearrangements and chromosomal copy number changes associated with B-cell acute lymphoblastic...
CYPZ - Overview: 21-Hydroxylase Gene, CYP21A2, Full Gene Analysis, Varies
Carrier screening and diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia (CAH) in individuals with a personal or family history of 21-hydroxylase deficiency, or as follow-up to positive CAH newborn screens and/or...
PCDES - Overview: Pediatric Autoimmune Encephalopathy/CNS Disorder Evaluation, Serum
Evaluating children with autoimmune central nervous system disorders using serum specimens
CMITO - Overview: Combined Mitochondrial Full Genome and Nuclear Gene Panel, Varies
Diagnosing mitochondrial disease that results from variants in either nuclear-encoded genes or the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial...
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of Epstein-Barr virus (EBV) susceptibility or a heritable predisposition to lymphoproliferative disease Establishing a diagnosis of a...
Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, tetrahydrocannabinol, and alcohol This test is not intended for use in employment-related testing.
Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary hemorrhagic telangiectasia (HHT), cerebral cavernous malformation (CCM), capillary malformation-arteriovenous malformation syndrome...
Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...
DMDZ - Overview: DMD Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with Duchenne muscular dystrophy and Becker muscular dystrophy Identifying variants within DMD known to be associated with Duchenne muscular dystrophy or Becker muscular dystrophy, allowing...
DHCRZ - Overview: Smith Lemli Opitz Syndrome, DHCR7 Gene, Full Gene Analysis, Varies
Follow up for abnormal biochemical results suggestive of Smith-Lemli-Opitz syndrome Establishing a molecular diagnosis for patients with Smith-Lemli-Opitz syndrome Identifying alterations within DHCR7 allowing for predictive testing of...
SOD1Z - Overview: SOD1 Gene, Full Gene Analysis, Varies
Establishing a molecular diagnosis for patients with amyotrophic lateral sclerosis (ALS) Identifying variants within SOD1 known to be associated with ALS, allowing for predictive testing of at-risk family members
HLLFH - Overview: Hematologic Disorders, Leukemia/Lymphoma; Flow Hold, Varies
Evaluating lymphocytoses of undetermined etiology Identifying B- and T-cell lymphoproliferative disorders involving blood and bone marrow Distinguishing acute lymphoblastic leukemia from acute myeloid leukemia (AML) Immunologic...
ALBLD - Overview: Bleeding Diathesis Profile, Limited, Plasma
Detection of the more common potential causes of abnormal bleeding (eg, factor deficiencies/hemophilia, von Willebrand disease, factor-specific inhibitors) and a simple screen to evaluate for an inhibitor or severe deficiency of factor XIII...
CBC - Overview: Complete Blood Cell Count (CBC) with Differential, Blood
Screening tool to confirm a hematologic disorder, to establish or rule out a diagnosis, to detect an unsuspected hematologic disorder, or to monitor effects of radiation or chemotherapy
AUTOG - Overview: Autoinflammatory Disorders Gene Panel, Varies
Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inherited autoinflammatory disorder Establishing a diagnosis of a monogenic autoinflammatory disorder, allowing for appropriate...
CILPF - Overview: Congenital Infantile Leukemia, FISH, Tissue
Detecting a neoplastic clone associated with the common chromosome abnormalities and classic rearrangements seen in infant patients with leukemia using tissue specimens
GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces
Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...
MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a methylmalonic acidemia (MMA) Establishing a molecular diagnosis for patients with MMA Identifying variants within genes known to be associated with MMA, allowing for predictive...
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Problem-Solving Thinking: An Overview of DMAIC, A3, and PDSA - Insights
PACE/State of FL - What problem-solving thinking is, as well as an overview of what DMAIC, A3, and PDSA problem-solving approaches are to support your quality and continuous improvement journey....
MayoLINK Overview Video - Mayo Clinic Laboratories
MayoLINK Overview Video - Mayo Clinic Laboratories Share Print
FISH probe & panel project: An overview - Insights
In this month's "Hot Topic," Jess Peterson, M.D., discusses changes to Mayo Clinic Laboratories’ hematology FISH menu to increase awareness, provide reasoning, and highlight some of the great things that are coming.
Lab Billing, Coding, and Compliance: A 2025 Overview - Insights
PACE/State of FL - Critical topics essential for laboratory billing, coding, and compliance.
MGLE - Overview: Myasthenia Gravis/Lambert-Eaton Myasthenic Syndrome Evaluation, Serum
Confirming the autoimmune basis of a defect in neuromuscular transmission (eg, myasthenia gravis [MG], Lambert-Eaton myasthenic syndrome [LEMS]) Distinguishing LEMS from autoimmune forms of MG Providing a quantitative autoantibody...