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Test Catalog

PMHLH - Overview: Postmortem Primary Hemophagocytic Lymphohistiocytosis (HLH) Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a death attributed to primary hemophagocytic lymphohistiocytosis Identifying a disease-causing variant in the decedent, which may assist with risk assessment and...

PSY - Overview: Psychosine, Blood Spot

Aids in the biochemical detection of Krabbe disease and saposin A cofactor deficiency Second-tier testing or follow up testing after an abnormal newborn screening result in an infant for Krabbe disease This test is not capable of...

SZDIA - Overview: Sezary Diagnostic Flow Cytometry, Blood

Identifying immunophenotypically aberrant T-cell populations with restricted expression of T-cell receptor beta-chain constant in peripheral blood, to roughly assess the circulating tumor burden in cutaneous T-cell lymphomas

CATPA - Overview: Catecholamine, Endocrine Study, Plasma

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in both supine and standing positions, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of...

CATP - Overview: Catecholamine Fractionation, Free, Plasma

Diagnosing pheochromocytoma and paraganglioma, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis follow-up of patients with neuroblastoma and related tumors, as an auxiliary test to urine...

NGTCL - Overview: MayoComplete T-Cell Lymphoma, Next-Generation Sequencing, Varies

Aiding in establishing diagnosis, refining prognosis, and potentially identifying targeted therapies for the optimal management of patients with T-cell lymphomas

NGPCM - Overview: MayoComplete Plasma Cell Myeloma, Next-Generation Sequencing, Varies

Evaluating multiple myeloma at the time of diagnosis and at disease relapse or when changing clinical management to provide prognostic information and determine potential therapeutic implications

MCM24 - Overview: Mast Cell Mediators, 24 Hour, Urine

Evaluating patients at risk for mast cell activation syndrome (eg, systemic mastocytosis) using 24-hour urine collections

MCLBP - Overview: MayoComplete Liquid Biopsy Panel, Next-Generation Sequencing, Cell-Free DNA

As an alternative to invasive tissue biopsies to assist in tumor profiling for diagnosis, predicting prognosis, and identifying targeted therapies for the treatment and management of patients with solid tumors As an alternative to invasive...

MBX - Overview: Muscle Pathology Consultation

Obtaining a rapid, expert opinion on muscle biopsy specimens for diagnosis of acquired or inherited muscle diseases Guiding treatment and genetic testing, as well as investigating relevance of genetic variants of unknown significance

SCOF4 - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2), Influenza Virus Type A and Type B RNA, and Respiratory Syncytial Virus (RSV) Molecular Detection, PCR, Varies

Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, influenza B virus, and respiratory syncytial virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses

SCOF3 - Overview: Severe Acute Respiratory Syndrome Coronavirus 2 (SARS CoV-2) and Influenza Virus Type A and Type B RNA, Molecular Detection, PCR, Varies

Simultaneous detection and differentiation of SARS-CoV-2 (cause of COVID-19), influenza A virus, and influenza B virus in upper or lower respiratory tract specimens from individuals with flu-like illnesses

TLYM - Overview: T-Cell Lymphoma, FISH, Tissue

Detecting common, recurrent chromosome abnormalities in various T-cell lymphomas in paraffin-embedded tissue specimens at diagnosis Providing prognostic information in patients with documented systemic ALK-negative anaplastic large cell...

SEP9Z - Overview: SEPTIN9 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis for patients with hereditary neuralgic amyotrophy Identifying variants within SEPTIN9 known to be associated with hereditary neuralgic amyotrophy, allowing for predictive testing of at-risk family members

PADF - Overview: Prenatal Aneuploidy Detection, FISH

Screening for chromosomal aneuploidies of chromosomes 13, 18, 21, X, and Y in prenatal specimens

MULT - Overview: Zygosity Testing (Multiple Births), Varies

Determining genetic risk for an individual whose twin or triplet is affected with a genetic disorder for which a specific genetic test is not available (or such testing is uninformative) Assessment of risks prenatally when one fetus of...

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

CSFP - Overview: Carrier Screen, Focused Panel, Varies

Expanded carrier screening for reproductive risk assessment purposes This test is not useful for clinical diagnosis of an affected individual.

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...

DPYDQ - Overview: Dihydropyrimidine Dehydrogenase Genotype, Varies

Identifying individuals with genetic variants in DPYD who are at increased risk of toxicity when prescribed 5-fluorouracil (5-FU) or capecitabine chemotherapy treatment

MCKCP - Overview: MayoComplete Kidney Cancer Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma Assessment of microsatellite instability for immunotherapy decisions

EDMDP - Overview: Inherited Emery-Dreifuss Gene Panel, Varies

Establishing a molecular diagnosis for patients with Emery-Dreifuss muscular dystrophy Identifying variants within genes known to be associated with Emery-Dreifuss muscular dystrophy, allowing for predictive testing of at-risk family...

KRABZ - Overview: Krabbe Disease, Full Gene Analysis and Large (30 kb) Deletion, Varies

Second-tier test for confirming a diagnosis of Krabbe disease Carrier testing for individuals with a family history of Krabbe disease in the absence of known sequence variants in the family

DMITO - Overview: Mitochondrial DNA Deletion Heteroplasmy, ddPCR, Varies

Assessing the heteroplasmy level of previously detected large mitochondrial DNA (mtDNA) deletions. Screening family members for previously detected large mtDNA deletions. This test is not recommended for first tier diagnostic testing...

HYPTG - Overview: Hypertriglyceridemia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of hereditary forms of primary hypertriglyceridemia and related conditions.

GBAZ - Overview: Gaucher Disease, Full Gene Analysis, Varies

Confirmation of a diagnosis of Gaucher disease Carrier screening in cases where there is a family history of Gaucher disease, but an affected individual is not available for testing or disease-causing alterations have not been identified

CMSP - Overview: Inherited Congenital Myasthenic Syndrome Gene Panel, Varies

Establishing a molecular diagnosis for patients with congenital myasthenic syndrome Identifying variants within genes known to be associated with congenital myasthenic syndrome, allowing for predictive testing of at-risk family members

COGBL - Overview: Chromosome Analysis, Hematologic Disorders, Children's Oncology Group Enrollment Testing, Blood

Evaluation of pediatric blood specimens for chromosomal abnormalities associated with hematologic malignancies for diagnostic and prognostic purposes in patients being considered for enrollment in Children's Oncology Group clinical trials...

8AINH - Overview: Factor VIII Inhibitor Profile, Professional Interpretation

Interpretation for the detection of the presence and titer of a specific factor inhibitor directed against coagulation factor VIII

CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

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...

FNEOS - Overview: Neopterin

Increased levels of neopterin are found during impaired renal function and viral infection in transplant patients. Elevated levels are also indicators for conditions related to impaired cellular immunity.

PGN - Overview: Pregabalin, Serum

Monitoring serum pregabalin (Lyrica) concentrations, assessing compliance, and adjusting dosage in patients

FROS2 - Overview: Fructose, Qualitative, Semen

Establishing the origin of azoospermia in patients with azoospermia and low volume ejaculates

FNSVG - Overview: Vaginitis (VG), NuSwab

Used to detect the presence of Candida albicans and Candida glabrata DNA in vaginal samples as an aid to the diagnosis of vulvovaginal candidiasis in symptomatic women. Also used in the diagnosis of Trichomonas vaginalis infections.

FDAIP - Overview: Diabetes Autoimmune Profile

Diabetes autoantibodies assessment is helpful in identifying and managing patients at risk for development of type 1 diabetes.

ENC2 - Overview: Encephalopathy, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating new onset encephalopathy (noninfectious or metabolic) comprising confusional states, psychosis, delirium, memory loss, hallucinations, movement disorders, sensory or motor complaints, seizures, dyssomnias, ataxias, nausea,...

APGP - Overview: Acute Porphyria Gene Panel, Varies

Establishing a molecular diagnosis for patients with acute porphyria Identifying variants within genes known to be associated with acute porphyria, allowing for predictive testing of at-risk family members

THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...

SCHPV - Overview: Human Papillomavirus (HPV) Detection and High-Risk Genotyping, Self-Collect, PCR, Vaginal

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...

MDYSP - Overview: Inherited Muscular Dystrophy Gene Panel, Varies

Establishing a molecular diagnosis for patients with muscular dystrophy Identifying variants within genes known to be associated with muscular dystrophy, allowing for predictive testing of at-risk family members

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

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