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Test Catalog
SYPH1 - Overview: Syphilis IgG with Reflex, Enzyme Immunoassay, Serum
Aid for the diagnosis of infection with Treponema pallidum using an algorithmic approach Routine prenatal screening This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful for...
GAST - Overview: Gastrin, Serum
Investigation of patients with achlorhydria or pernicious anemia Investigation of patients suspected of having Zollinger-Ellison syndrome Diagnosis of gastrinoma
CHBVS - Overview: Chronic Hepatitis B Screen, Serum
Diagnosis and evaluation of patients at risk for or suspected of having chronic hepatitis B This test is not offered as a screening or confirmatory test for blood donor specimens. This test is not useful during the "window period" of...
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...
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
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...
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
RETB - Overview: Reticulocyte Profile, Blood
Assessing erythropoietic bone marrow activity in anemia and other hematologic conditions Assessment of acute iron deficiency Monitoring early response to iron therapy or erythropoiesis-stimulating agents Early monitoring of therapy for...
PFAPE - Overview: Fatty Acid Profile, Essential, Plasma
Evaluating the nutritional intake and intestinal absorption of essential fatty acids using plasma specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...
FAPEP - Overview: Fatty Acid Profile, Essential, Serum
Evaluating the nutritional intake and intestinal absorption of essential fatty acids using serum specimens Identifying deficiency of essential and other nutritionally beneficial fatty acids Monitoring treatment of patients with essential...
AAQP - Overview: Amino Acids, Quantitative, Plasma
Evaluating patients with possible inborn errors of metabolism using plasma specimens May aid in evaluation of endocrine disorders, liver diseases, muscle diseases, neoplastic diseases, neurological disorders, nutritional disturbances,...
ACRN - Overview: Acylcarnitines, Quantitative, Plasma
Diagnosis of fatty acid oxidation disorders and several organic acidurias using plasma specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
ACRNS - Overview: Acylcarnitines, Quantitative, Serum
Diagnosis of fatty acid oxidation disorders and several organic acidurias using serum specimens Evaluating treatment during follow-up of patients with fatty acid beta-oxidation disorders and several organic acidurias
HPCUT - Overview: Hematopathology Consultation, Client Embed
Obtaining a rapid, expert opinion for diagnosis of hematologic and nonhematologic diseases using bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally
HPWET - Overview: Hematopathology Consultation, MCL Embed
Obtaining a rapid, expert opinion for diagnosis of hematologic and non-hematologic diseases using unprocessed bone marrow biopsy specimens referred by the primary pathologist Obtaining special studies that are not available locally
HCVDR - Overview: Hepatitis C Virus Genotypic Antiviral Drug Resistance, Serum
Detecting and identifying codon substitutions in the hepatitis C virus (HCV) NS3, NS5A, and NS5B genomic regions that confer resistance to current direct-acting antiviral drugs used for treatment of chronic hepatitis C infection due to HCV...
PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies
Establishing a molecular diagnosis for patients with Parkinson disease Identifying variants within genes known to be associated with Parkinson disease, allowing for predictive testing of at-risk family members
JIP - Overview: Joint Infection Panel, PCR, Synovial Fluid
Rapid detection of synovial fluid infections caused by the following: Anaerococcus prevotii/vaginalis Finegoldia magna Streptococcus species Clostridium perfringens Parvimonas micra Streptococcus agalactiae Cutibacterium...
CTRNA - Overview: Chlamydia trachomatis, Nucleic Acid Amplification, Varies
Detecting Chlamydia trachomatis This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.
GCRNA - Overview: Neisseria gonorrhoeae, Nucleic Acid Amplification, Varies
Detecting Neisseria gonorrhoeae This test is not intended for use in medico-legal applications.
Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance Establishing a diagnosis for a variety of hereditary...
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
PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue
Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation
FIBRO - Overview: FibroTest-ActiTest, Serum
Evaluating hepatic fibrosis in chronic hepatitis C patients Diagnosing fibrosis in carriers of chronic hepatitis B virus Evaluating hepatic fibrosis in co-infected HIV carriers Providing access to new-generation non-interferon...
WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies
Confirming the diagnosis of Wilson disease
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
Establishing a molecular diagnosis for patients with limb-girdle muscular dystrophy or congenital myasthenic syndrome Identifying variants within genes known to be associated with limb-girdle muscular dystrophy or congenital myasthenic...
ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary spastic paraplegia Identifying variants within genes known to be associated with hereditary spastic paraplegia, allowing for predictive testing of at-risk family members
ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...
IMNP - Overview: Inherited Motor Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with distal hereditary motor neuropathy (dHMN) Identifying variants within genes known to be associated with dHMN, allowing for predictive testing of at-risk family members
CRHEP - Overview: Chronic Viral Hepatitis (Unknown Type), Serum
Diagnosis and evaluation of patients with symptoms of hepatitis lasting more than 6 months Distinguishing between chronic hepatitis B and C
ATAXP - Overview: Inherited Ataxia Gene Panel, Varies
Establishing a molecular diagnosis for patients with ataxia Identifying variants within genes known to be associated with ataxia, allowing for predictive testing of at-risk family members
Detecting Chlamydia trachomatis and/or Neisseria gonorrhoeae This test is not intended for use in medico-legal applications. This test is not useful for the detection of other Chlamydia species.
GNPRS - Overview: Protein S Deficiency, PROS1 Gene, Next-Generation Sequencing, Varies
Evaluating protein S deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein S deficiency with the identification of a known or suspected...
GNPRC - Overview: Protein C Deficiency, PROC Gene, Next-Generation Sequencing, Varies
Evaluating protein C deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming a diagnosis of autosomal dominant protein C deficiency with the identification of a known or suspected...
PHEPU - Overview: Previous Viral Hepatitis (Unknown Type), Serum
Determining if an individual has been infected following exposure to an unknown type of viral hepatitis virus Obtaining baseline serologic markers of an individual exposed to a source with an unknown type of hepatitis Determining...
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...
TIKLB - Overview: Tick-Borne Panel, Molecular Detection, PCR, Blood
Evaluating patients with suspected human monocytic ehrlichiosis, human granulocytic anaplasmosis, babesiosis, or Borrelia miyamotoi infection Evaluating patients with a history of, or suspected, tick exposure who are presenting with...
HFAOP - Overview: Fatty Acid Oxidation Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of a fatty acid oxidation disorder Establishing a molecular diagnosis for patients with a fatty acid oxidation disorder Identifying variants within genes known to be associated with a...
Detecting drug use involving stimulants, benzodiazepines, and opioids This test is not intended for use in employment-related testing.
HBEL1 - Overview: Hemoglobin Electrophoresis Evaluation, Blood
Diagnosis and classification of hemoglobin disorders, including thalassemias and hemoglobin variants
PEPAN - Overview: Comprehensive Peripheral Neuropathy Gene Panel, Varies
Establishing a molecular diagnosis for patients with peripheral neuropathy Identifying variants within genes known to be associated with peripheral neuropathy, allowing for predictive testing of at-risk family members
MUPAN - Overview: Comprehensive Neuromuscular Gene Panel, Varies
Establishing a molecular diagnosis for patients with a neuromuscular disorder Identifying variants within genes known to be associated with neuromuscular disorders allowing for predictive testing of at-risk family members
Screening for infection with high-risk human papillomavirus (HPV) associated with the development of cervical cancer Individual genotyping of HPV-16 and/or HPV-18 if present This testing is intended for use in clinical monitoring and...
GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies
Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...
PCGP - Overview: Porphyria Comprehensive Gene Panel, Varies
Follow up for abnormal biochemical results suggestive of porphyria Establishing a molecular diagnosis for patients with porphyria Identifying variants within genes known to be associated with porphyria, allowing for predictive testing of...
CDGGP - Overview: Congenital Disorders of Glycosylation Gene Panel, Varies
Establishing a molecular diagnosis for patients with congenital disorders of glycosylation Identifying variants within genes known to be associated with congenital disorders of glycosylation, allowing for predictive testing of at-risk...
CGPH - Overview: Custom Gene Panel, Hereditary, Next-Generation Sequencing, Varies
Customization of existing next-generation sequencing panels offered through Mayo Clinic Laboratories Detection single nucleotide and copy number variants in a custom gene panel Identification of a pathogenic variant may assist with...
MEV1 - Overview: Methemoglobinemia Evaluation, Blood
Diagnosis of methemoglobinemia and sulfhemoglobinemia and possible hereditary (congenital) causes Differentiation of methemoglobinemia and sulfhemoglobinemia from other causes of cyanosis (eg, congenital heart disease)
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helps in diagnosis, treatment, and prognosis of ALS and MS - Insights
neurofilament light chain (Nfl) proteins in blood, clinicians can better diagnose devastating diseases like ALS and MS, help predict disease progression, and better assess efficacy of existing drugs and trial therapies...
Frontotemporal dementia and ALS - Insights
Learn more about how detection of amyotrophic lateral sclerosis and frontotemporal dementia paved the way for gene-targeted therapies for patients.
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1939: Lou Gehrig Comes to Mayo Clinic #ThrowbackThursday - Insights
June 1939, his name became associated with an illness called amyotrophic lateral sclerosis (ALS). Today, ALS is known as Lou Gehrig’s Disease....
Hereditary Alzheimer's disease and dementia - Insights
Learn about our genetic testing for Alzheimer’s disease, amyotrophic lateral sclerosis (ALS), frontotemporal dementia, and CADASIL....