PGRBC - Overview: Plasmalogens, Blood

Diagnosing patients with possible peroxisomal disorders, such as peroxisomal biogenesis disorders (Zellweger syndrome spectrum) and rhizomelic chondrodysplasia punctata (RCDP), including fatty acyl-CoA reductase 1 (FAR1) deficiency...

PD2T - Overview: Pompe Disease Second-Tier Newborn Screening, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for Pompe disease (decreased acid alpha-glucosidase enzyme activity) Follow-up testing for evaluation of an abnormal newborn screening result for Pompe disease

RPR17 - Overview: Respiratory Profile, Region 17, Pacific Northwest (Northwestern CA, Western OR, WA), Serum

Assessing sensitization to various inhalant allergens commonly found in the Pacific Northwest including the region of Northwestern California, Western Oregon and Washington Defining the allergen responsible for eliciting signs and...

SHBG1 - Overview: Sex Hormone-Binding Globulin, Serum

Diagnosis and follow-up of women with signs or symptoms of androgen excess (eg, polycystic ovarian syndrome and idiopathic hirsutism) An adjunct in monitoring sex-steroid and antiandrogen therapy An adjunct in the diagnosis of disorders...

SS18F - Overview: Synovial Sarcoma (SS), 18q11.2 (SS18 or SYT) Rearrangement, FISH, Tissue

Supporting the diagnosis of synovial sarcoma when used in conjunction with an anatomic pathology consultation

LPCBS - Overview: Lysophosphatidylcholines, LC MS/MS, Blood Spot

Second-tier newborn screen for X-linked adrenoleukodystrophy This test is not intended for metabolic screening of symptomatic patients. This test is supplemental and not intended to replace state mandated newborn screening.

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...

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

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

NAGR - Overview: Hexosaminidase A and Total, Leukocytes/Molecular Reflex, Whole Blood

Carrier detection and diagnosis of Tay-Sachs disease Carrier detection and diagnosis of Sandhoff disease

RENCP - Overview: Hereditary Renal Cancer Panel, Varies

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

INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.

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

MCP2Z - Overview: MECP2 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of Rett syndrome and MECP2-related disorders Identifying pathogenic variants within the MECP2 gene known to be associated with Rett syndrome and MECP2-related disorders,...

PSTF - Overview: Protein S Antigen, Plasma

Investigation of patients with a history of thrombosis

NTC3Z - Overview: NOTCH3 Gene, Full Gene Analysis, Varies

Establishing a molecular diagnosis in individuals with features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and NOTCH3-related disorders Identifying disease-causing variants...

PLASF - Overview: Plasma Cell Proliferative Disorder, FISH, Tissue

Supporting the diagnosis of plasmacytoma or myeloma when coordinated with a surgical pathology consultation

PHLDF - Overview: Philadelphia Chromosome-like Acute Lymphoblastic Leukemia (Ph-like ALL), Diagnostic FISH, Varies

Detecting a neoplastic clone associated with Philadelphia chromosome-like acute lymphoblastic leukemia (ALL), particularly when a classic abnormality is not detected with the initial panel An adjunct to conventional chromosome studies in...

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

SMNDX - Overview: Spinal Muscular Atrophy Diagnostic Assay, Deletion/Duplication Analysis, Varies

First-tier newborn screening for spinal muscular atrophy (SMA) Prenatal testing for SMA Diagnostic testing to confirm a suspected diagnosis of SMA

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...

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...

BRBPS - Overview: Broad Range Bacterial PCR and Sequencing, Varies

Detecting and identifying bacteria (including mycobacteria) from normally sterile sources, including synovial fluid; body fluids such as pleural, peritoneal, and pericardial fluids, cerebrospinal fluid; and both fresh and formalin-fixed...

CFTRN - Overview: Cystic Fibrosis Transmembrane Conductance Regulator, CFTR, Full Gene Analysis, Varies

Follow-up testing to identify variants in individuals with a clinical diagnosis of cystic fibrosis (CF) Identifying genetic variants in individuals with atypical presentations of CF (eg, congenital bilateral absence of the vas deferens or...

CHLGP - Overview: Cholestasis Gene Panel, Varies

Establishing a molecular diagnosis for patients with monogenic cholestasis Identifying variants within genes known to be associated with primary, monogenic cholestasis, allowing for predictive testing of at-risk family members This panel...

GNF7 - Overview: Factor VII Deficiency, F7 Gene, Next-Generation Sequencing, Varies

Evaluating factor VII deficiency (FVIID) in patients with a personal or family history suggestive of FVIID Confirming an FVIID diagnosis with the identification of known or suspected disease-causing alterations in the F7 gene...

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

LSDGP - Overview: Lysosomal Storage Disease Gene Panel, Varies

Follow up for abnormal biochemical results and confirmation of suspected lysosomal storage disease (LSD) Establishing a molecular diagnosis for patients with LSD Identifying variants within genes known to be associated with LSD, allowing...

IMMAU - Overview: Inborn Errors of Immunity with Immune Dysregulation and Autoimmunity Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of an inborn error of immunity (IEI) associated with immune dysregulation or autoimmunity Establishing a diagnosis of an IEI, allowing...

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)

PMAOG - Overview: Postmortem Aortopathy Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death attributed to thoracic aortic dissection or with a personal or family history suggestive of Marfan syndrome, Loeys-Dietz syndrome, thoracic aortic...

SCCNP - Overview: Severe Congenital and Cyclic Neutropenia Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of severe congenital neutropenia and/or cyclic neutropenia Establishing a diagnosis of an inherited congenital neutropenia and, in some cases,...

UCDP - Overview: Urea Cycle Disorders Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of a urea cycle disorder (UCD) Establishing a molecular diagnosis for patients with a UCD Identifying variants within genes known to be associated with UCD, allowing for predictive...

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 Clinic Laboratories serum evaluation

LUCHM - Overview: LiquidHALLMARK ctDNA and ctRNA

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 a solid tumor This test is not useful for...

CSU - Overview: Chyluria Screen, Random, Urine

Aiding in the diagnosis of chyluria (galacturia)

8INHT - Overview: Factor VIII Inhibitor Profile, Technical Interpretation

Technical interpretation of inhibitor to factor VIII testing This test is not useful for the detection of a lupus-like circulating anticoagulant inhibitor, a nonspecific circulating anticoagulant, or other inhibitors that are not specific...

GLSF - Overview: Glucose, Spinal Fluid

Investigating possible central nervous system infection

FNEU - Overview: Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

Neurotransmitter Metabolites (5HIAA, HVA, 3OMD) (CSF)

AAUCD - Overview: Amino Acids, Urea Cycle Disorders Panel, Plasma

Follow-up of patients with urea cycle disorders

A1AFS - Overview: Alpha-1-Antitrypsin Clearance, Feces and Serum

Diagnosing protein-losing enteropathies

ARSBW - Overview: Arylsulfatase B, Leukocytes

Supporting the biochemical diagnosis of mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome) in whole blood specimens This test is not useful for carrier detection.

L3AFP - Overview: Alpha-Fetoprotein (AFP) L3% and Total, Hepatocellular Carcinoma Tumor Marker, Serum

Distinguishing between hepatocellular carcinoma and chronic liver disease Monitoring individuals with hepatic cirrhosis from any etiology for progression to hepatocellular carcinoma Surveillance for development of hepatocellular...

BPAB - Overview: Bullous Pemphigoid, BP180 and BP230, IgG Antibodies, Serum

Initial screening test in the diagnosis of bullous pemphigoid and its variants Complementing the standard serum test of indirect immunofluorescence utilizing primate esophagus substrate and primate salt-split skin substrate (CIFS /...

FBL - Overview: Fungal Culture, Blood

Diagnosis and treatment of the etiologic agents of fungemia

THCCR - Overview: Delta 9-Carboxy-Tetrahydrocannabinol (THC-COOH) Confirmation and Creatinine Ratio, Random, Urine

Measuring the delta-9 carboxy-tetrahydrocannabinol to creatinine ratio to detect use of tetrahydrocannabinol

DCP - Overview: Des-Gamma-Carboxy Prothrombin, Serum

Risk assessment of patients with chronic liver disease for development of hepatocellular carcinoma (HCC) Aiding in the monitoring of HCC patients post therapy if the des-gamma-carboxy prothrombin level was elevated prior to therapy

DASM5 - Overview: Drugs of Abuse Screen, Meconium 5

Identifying amphetamines (and methamphetamines), opiates, phencyclidine, as well as metabolites of cocaine and marijuana in meconium specimens

ERPR - Overview: Estrogen/Progesterone Receptor, Semi-Quantitative Immunohistochemistry, Manual

Guiding decisions on hormonal therapy in patients with breast carcinomas This test is not useful for cases of lobular carcinoma in situ.

CMVLR - Overview: Cytomegalovirus (CMV) Molecular Detection, PCR, Lower Respiratory

Rapid qualitative detection of cytomegalovirus (CMV) DNA in lower respiratory specimens This test is not intended for the monitoring of CMV disease progression or response to therapy.