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...

LSDS - Overview: Lysosomal Disorders Screen, Random, Urine

Screening patients suspected of having a lysosomal disorder

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...

TCRB - Overview: T-Cell Receptor V-Beta Repertoire Analysis, Spectratyping, Blood

Assessment of T-cell receptor diversity in various clinical contexts including inborn errors of immunity (formerly primary immunodeficiencies), monitoring immune reconstitution post-hematopoietic stem cell transplantation, and temporal...

SRYF - Overview: Sex-Determining Region Y, Yp11.3 Deletion, FISH

Detecting the deletion or addition of the SRY gene in conjunction with conventional chromosome studies

SCARA - Overview: Spinocerebellar Ataxia Type 1, 2, 3, 6, or 7, Repeat Expansion Analysis, Varies

Diagnostic or predictive testing when clinical symptoms or a family history are specific to only one type of spinocerebellar ataxia

TTST - Overview: Testosterone, Total, Mass Spectrometry, Serum

Evaluating men with symptoms or signs of possible hypogonadism, such as loss of libido, erectile dysfunction, gynecomastia, osteoporosis, or infertility Evaluating boys with delayed or precocious puberty Monitoring testosterone...

TYRGP - Overview: Tyrosine Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a tyrosine disorder Establishing a molecular diagnosis for patients with tyrosine disorders Identifying variants within genes known to be associated with tyrosine disorders,...

STICK - Overview: Tick-Borne Antibodies, Modified 2-Tier, ELISA, Serum

Evaluation of the most common tick-borne diseases found in the United States, including Lyme disease, human monocytic and granulocytic ehrlichiosis, and babesiosis using the modified 2-tier testing algorithm approach Evaluation of patients...

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...

WNDZ - Overview: Wilson Disease, ATP7B Full Gene Sequencing with Deletion/Duplication, Varies

Confirming the diagnosis of Wilson disease

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

DCLNG - Overview: Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...

CLADP - Overview: Congenital Lactic Acidosis Panel, Varies

Follow up for abnormal biochemical results suggestive of congenital lactic acidosis Establishing a molecular diagnosis for patients with congenital lactic acidosis Identifying variants within genes known to be associated with congenital...

HBOCZ - Overview: BRCA1/BRCA2 Genes, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary breast and ovarian cancer (HBOC) syndrome Establishing a diagnosis of HBOC syndrome allowing for targeted cancer surveillance based on associated risks...

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

LYNCP - Overview: Lynch Syndrome Panel, Varies

Establishing a diagnosis of Lynch syndrome or constitutional mismatch repair deficiency allowing for targeted cancer surveillance based on associated risks Identifying MLH1, MSH2, MSH6, PMS2, or EPCAM variants to allow for predictive...

LQTSG - Overview: Long QT Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of long QT syndrome (LQTS) Establishing a diagnosis of LQTS

GLICP - Overview: CD8 T-Cell Immune Competence Panel, Global, Whole Blood

Determining over immunosuppression within the CD8 T-cell compartment, when used on transplant recipients and patients with autoimmune disorders receiving therapy with immunosuppressant agents

3MGAP - Overview: 3-Methylglutaconic Aciduria Panel, Varies

Follow up for abnormal biochemical results suggestive of 3-methylglutaconic aciduria (3-MGA) Establishing a molecular diagnosis for patients with 3-MGA Identifying variants within genes known to be associated with3-MGA, allowing for...

AFXN - Overview: Friedreich Ataxia, Repeat Expansion Analysis, Varies

Molecular confirmation of clinically suspected Friedreich ataxia

GATAS - Overview: GATA-Binding Protein 2, GATA2, Full Gene Analysis, Next-Generation Sequencing, Varies

Comprehensive evaluation of the GATA2 gene in patients with clinical or immunological symptoms suggestive of GATA-binding protein 2 (GATA2) deficiency Screening family members of patients with confirmed GATA2 deficiency

GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...

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

LGCMP - Overview: Inherited Limb-Girdle Muscular Dystrophy and Congenital Myasthenic Syndrome Gene Panel, Varies

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

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...

IGFMS - Overview: Insulin-Like Growth Factor-1, Mass Spectrometry, Serum

Evaluation of growth disorders Evaluation of growth hormone deficiency or excess in children and adults Monitoring of recombinant human growth hormone treatment Follow-up of individuals with acromegaly and gigantism

SPPC - Overview: Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Spinal Fluid

Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using spinal fluid specimens

SSCP - Overview: Systemic Sclerosis Criteria Panel, Serum

Evaluating patients with antinuclear antibody-associated connective tissue disease, specifically systemic sclerosis

SPPS - Overview: Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum

Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens

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

BTKSG - Overview: Bruton Tyrosine Kinase, BTK Full Gene Analysis, Varies

Confirming a diagnosis of X-linked agammaglobulinemia in patients with a history of recurrent sinopulmonary infections, profound hypogammaglobulinemia, and less than 1% peripheral B cells, with or without abnormal Bruton tyrosine kinase...

ADALP - Overview: Adalimumab Quantitative with Antibody, Serum

Therapeutic drug monitoring of adalimumab concentration and antibody levels

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

ANST - Overview: Androstenedione, Serum

Diagnosis and differential diagnosis of hyperandrogenism, in conjunction with measurements of other sex steroids Diagnosis of congenital adrenal hyperplasia (CAH), in conjunction with measurement of other androgenic precursors,...

HMDB - Overview: Heavy Metals Screen with Demographics, Blood

Detecting exposure to arsenic, lead, cadmium, and mercury

XCP - Overview: Hereditary Expanded Cancer Panel, Varies

Evaluating hereditary cancer in patients with a personal or family history suggestive of a hereditary cancer syndrome using a panel of 87 genes Establishing a diagnosis of a hereditary cancer syndrome allowing for targeted cancer...

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.

HMU24 - Overview: Heavy Metals Screen, with Reflex, 24 Hour, Urine

Detecting arsenic, cadmium, mercury, and lead exposure and toxicity using 24-hour urine specimens

RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...

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

CGRNA - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Nucleic Acid Amplification, Varies

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.

CHDGG - Overview: Congenital Heart Disease Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of congenital heart disease Establishing a diagnosis of a genetic condition associated with congenital heart disease

CDS1 - Overview: CNS Demyelinating Disease Evaluation, Serum

Diagnosis of inflammatory demyelinating diseases (IDDs) with similar phenotype to neuromyelitis optica spectrum disorder (NMOSD), including optic neuritis (single or bilateral) and transverse myelitis Diagnosis of autoimmune myelin...

CCMGG - Overview: Comprehensive Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of cardiomyopathy Establishing a diagnosis of a hereditary form of cardiomyopathy

CGAK - Overview: Chromogranin A, Serum

Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...

NHHA - Overview: Hereditary Hemolytic Anemia Gene Panel, Next-Generation Sequencing, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hereditary hemolytic anemias, including red blood cell (RBC) membrane/hydration disorders, RBC enzymopathies, and congenital...