PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid

Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation

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...

PWAS - Overview: Prader-Willi/Angelman Syndrome, Molecular Analysis, Varies

Confirmation of diagnosis in patients suspected of having either Prader-Willi syndrome (PWS) or Angelman syndrome (AS) based on clinical assessment or previous laboratory analysis Prenatal diagnosis in families at risk for PWS or AS

HPANP - Overview: Hereditary Pancreatitis Gene Panel, Varies

Confirming a suspected clinical diagnosis of familial or hereditary pancreatitis in patients with chronic pancreatitis Identifying gene variants contributing to pancreatitis in an individual or family Identifying gene variants to allow...

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

CMAPC - Overview: Chromosomal Microarray, Autopsy, Products of Conception, or Stillbirth

Prenatal diagnosis of copy number changes (gains or losses) across the entire genome Diagnosing chromosomal causes for fetal death Determining recurrence risk of future pregnancy losses Determining the size, precise breakpoints, gene...

NCYB - Overview: Recessive Congenital Methemoglobinemia, CYB5 and CYB5 Reductase Genetic Analysis, Next-Generation Sequencing, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of recessive congenital methemoglobinemia Genotype confirmation of borderline cytochrome b5 reductase (methemoglobin reductase: METR) enzyme activity...

ALUPP - Overview: Lupus Anticoagulant Profile, Plasma

Confirming or excluding the presence of lupus anticoagulant (LA), distinguishing LA from specific coagulation factor inhibitors and nonspecific inhibitors Investigating a prolonged activated thromboplastin time, especially when combined...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

HIQDR - Overview: HIV-1 RNA Quantification with Reflex to Genotypic Drug Resistance to Reverse Transcriptase, Protease, and Integrase Inhibitors, Plasma

Quantifying plasma HIV-1 RNA levels (viral load) in individuals (including children) with known HIV-1 infection, followed by identification of HIV-1 genotypic mutations associated with resistance to nucleotide and non-nucleoside...

AGDD - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Varies

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

MITOP - Overview: Mitochondrial Full Genome Analysis, Next-Generation Sequencing (NGS), Varies

Diagnosis of the subset of mitochondrial diseases that results from variants in the mitochondrial genome A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

RP - Overview: Respiratory Panel, PCR, Nasopharyngeal

Rapid detection of respiratory infections caused by the following: -Adenovirus -Coronavirus serotypes HKU1, NL63, 229E, OC43 - SARS-CoV-2, the causative agent of COVID-19 -Human metapneumovirus -Human rhinovirus/enterovirus -Influenza A...

PNEFS - Overview: Neuroimmunology Antibody Follow-up, Serum

Monitoring patients who have previously tested positive for one or more antibodies within the past 5 years in a Mayo Neuroimmunology Laboratory serum evaluation

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...

FMTT - Overview: Familial Variant, Targeted Testing, Varies

Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired Carrier screening...

BCLL - Overview: IGH Somatic Hypermutation Analysis, B-Cell Chronic Lymphocytic Leukemia (B-CLL), Varies

Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.