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

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...

CDA7X - Overview: Drug Abuse Survey with Confirmation, Panel 9, Chain of Custody, Random, Urine

Detecting drug abuse involving alcohol, amphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, phencyclidine, and tetrahydrocannabinol This chain-of-custody test is intended to be used in a setting where the test results...

CDAU7 - Overview: Drug Abuse Survey with Confirmation, Panel 9, Random, Urine

Detecting drug abuse involving, amphetamines, barbiturates, benzodiazepines, cocaine, ethanol, methadone, opiates, phencyclidine, and tetrahydrocannabinol This test is intended to be used in a setting where the test results can be used...

MCTGC - Overview: Chlamydia trachomatis and Neisseria gonorrhoeae, Miscellaneous Sites, Nucleic Acid Amplification, Varies

Detecting Chlamydia trachomatis and Neisseria gonorrhoeae in non-US Food and Drug Administration-approved specimen types This test is not intended for use in medico-legal applications. This test is not useful for the detection of...

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

UBA1Q - Overview: UBA1 Mutation Quantitative Detection, VEXAS syndrome, Droplet Digital PCR, Varies

Identification of pathogenic variant(s) in the UBA1 gene in patients presenting with symptoms concerning for or consistent with VEXAS syndrome

SAU - Overview: Sialic Acid, Free and Total, Random, Urine

Screening for sialic acid disorders

ALKT - Overview: ALK Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying mutations within the ALK gene that predict resistance to ALK-inhibitors

HIAAR - Overview: 5-Hydroxyindoleacetic Acid, Random, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using random urine specimens

PTH2 - Overview: Parathyroid Hormone, Serum

Diagnosis and differential diagnosis of hypercalcemia Diagnosis of primary, secondary, and tertiary hyperparathyroidism Diagnosis of hypoparathyroidism Monitoring kidney failure patients for possible renal osteodystrophy

EPCRB - Overview: Ehrlichia/Anaplasma, Molecular Detection, PCR, Blood

Evaluating patients suspected of acute anaplasmosis or ehrlichiosis This test should not be used for screening asymptomatic individuals.

DPYDZ - Overview: Dihydropyrimidine Dehydrogenase, DPYD Full Gene Sequencing, Varies

Identifying individuals at increased risk of toxicity when considering 5-fluorouracil and capecitabine chemotherapy treatment Identifying common and rare variants associated with decreased or absent dihydropyrimidine dehydrogenase (DPD)...

AGAW - Overview: Alpha-Galactosidase, Leukocytes

Diagnosis of Fabry disease in male patients Verifying abnormal serum alpha-galactosidase results in male patients with a clinical presentation suggestive of Fabry disease This test is not useful for patients undergoing a work-up for a...

ARBOP - Overview: Arbovirus Antibody Panel, IgG and IgM, Serum

Aiding the diagnosis of arboviral encephalitis (California [LaCrosse], St. Louis, Eastern equine, and Western equine encephalitis)

INHAB - Overview: Inhibin A and B, Tumor Marker, Serum

Aiding in the diagnosis of granulosa cell tumors and mucinous epithelial ovarian tumors Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin A or overexpress inhibin B

HCVQN - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification by Real-Time Reverse Transcription-PCR, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection Quantification of HCV RNA in serum of patients with...

QHV6C - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Spinal Fluid

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using cerebrospinal fluid specimens This test should not be used to screen asymptomatic patients.

OXYBS - Overview: Oxysterols, Blood Spot

Investigating a possible diagnosis of Niemann-Pick disease types A, B, or C using blood spot specimens Monitoring of individuals with Niemann-Pick disease type C This test is not useful for the identification of carriers.

PANOX - Overview: Pain Clinic Survey 10, Chain of Custody, Random, Urine

Detecting drug use involving amphetamines, barbiturates, benzodiazepines, cocaine, methadone, opiates, phencyclidine, and tetrahydrocannabinol This chain-of-custody test is intended to be used in a setting where the test results can be...

PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes

Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria

RAVMP - Overview: Ravulizumab Monitoring Panel, Serum

Monitoring of complement blockage by ravulizumab Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission...

DRVI3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation Ratio, Plasma

Confirming the presence or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

DRVI2 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Mix Ratio, Plasma

Detecting the presence or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

MCLNR - Overview: MayoComplete Lung Rearrangements, Rapid Test, Tumor

Identifying lung tumors that may respond to targeted therapies by simultaneously assessing multiple genes involved in rearrangements resulting in fusion transcripts Diagnosing and managing patients with lung cancer

RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue

Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...

HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum

Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation

SDHMP - Overview: SDH Genes Mutation Analysis, Next-Generation Sequencing, Tumor

Identifying specific mutations within the SDHA, SDHB, SDHC, and SDHD genes to assist in tumor diagnosis/classification, including pheochromocytoma/paraganglioma, renal cell carcinoma, and pituitary adenoma

HIAA - Overview: 5-Hydroxyindoleacetic Acid, 24 Hour, Urine

Biochemical diagnosis and monitoring of intestinal carcinoid syndrome using 24-hour urine specimens

25HDN - Overview: 25-Hydroxyvitamin D2 and D3, Serum

Diagnosis of vitamin D deficiency Differential diagnosis of causes of rickets and osteomalacia Monitoring vitamin D replacement therapy Diagnosis of hypervitaminosis D

ACASM - Overview: Pernicious Anemia Cascade, Serum

Diagnosis of pernicious anemia Diagnosis of vitamin B12 deficiency-associated neuropathy

MCGST - Overview: MayoComplete Gastrointestinal Stromal Tumor (GIST) Panel, Next-Generation Sequencing, Tumor

Establishing diagnosis and identifying targeted therapies for patients with gastrointestinal stromal tumors Assessing microsatellite instability

MCFRC - Overview: MayoComplete Renal Cell Carcinoma with Fibromyomatous Stroma Panel, Next-Generation Sequencing, Tumor

Identifying specific mutations within the ELOC (TCEB1), TSC1, TSC2, and VHL genes to assist in tumor diagnosis/classification Assisting in the clinical management of patients with renal cell carcinoma

AMYR - Overview: Beta-Amyloid Ratio (1-42/1-40), Spinal Fluid

Assisting in the evaluation of adult patients, aged 55 years and older, presenting with cognitive impairment and are being assessed for Alzheimer disease and other causes of cognitive decline This test is not intended as a screening or...

BHCG - Overview: Beta-Human Chorionic Gonadotropin, Quantitative, Serum

Monitoring patients for retained products of conception Aiding in the diagnosis of gestational trophoblastic disease (GTD), testicular tumors, ovarian germ cell tumors, teratomas, and, rarely, other human chorionic gonadotropin...

HCVQG - Overview: Hepatitis C Virus (HCV) RNA Quantification with Reflex to HCV Genotype, Serum

Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) Detection and confirmation of chronic HCV infection and determining HCV genotype (1 to 5) to guide...

CJDE - Overview: Creutzfeldt-Jakob Disease Evaluation, Spinal Fluid

Assessment of Creutzfeldt-Jakob disease or other human prion disease in patients with rapidly progressive dementia

DAGL - Overview: Gliadin (Deamidated) Antibody, IgA, Serum

Assessment of deaminated gliadin IgA antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

DGGL - Overview: Gliadin (Deamidated) Antibody, IgG, Serum

Assessment of deaminated gliadin IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk (family...

DGLDN - Overview: Gliadin (Deamidated) Antibodies Evaluation, IgG and IgA, Serum

Assessment of deaminated gliadin IgA and IgG antibodies for evaluating patients suspected of having celiac disease, including patients with compatible clinical symptoms, patients with atypical symptoms, and individuals at increased risk...

HMUOE - Overview: Heavy Metal Occupational Exposure, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead due to occupational exposure using random urine specimens

HMUCR - Overview: Heavy Metal/Creatinine Ratio, with Reflex, Random, Urine

Preferred screening test for detection of arsenic, cadmium, mercury, and lead in random urine specimens

HCVDX - Overview: Hepatitis C Virus (HCV) Antibody with Reflex to HCV RNA, PCR, Symptomatic, Serum

Diagnosis of recent or chronic hepatitis C virus (HCV) infection in symptomatic patients This test should not be used as a screening or confirmatory test for hepatitis C in blood or human cells/tissue donors. This test profile is not...

SHPV - Overview: Human Papillomavirus (HPV) DNA Detection with Genotyping, High-Risk Types by PCR, SurePath, Varies

Detection of high-risk (HR) genotypes associated with the development of cervical cancer An aid in triaging women with abnormal Pap smear test results Individual genotyping of human papillomavirus (HPV)-16 and/or HPV-18, if present...

NFLP - Overview: Neurofilament Light Chain, Plasma

Assessing neuronal damage related to various neurodegenerative diseases

PKLRZ - Overview: PKLR Full Gene Analysis, Varies

Aiding in the diagnosis of pyruvate kinase (PK) deficiency Ascertaining a causative variant in the PKLR gene of patients with low or relatively low levels of erythrocytic PK enzymatic activity Ascertaining carrier status of family members...

PMARG - Overview: Postmortem Arrhythmia Gene Panel, Tissue

Providing a comprehensive postmortem genetic evaluation in the setting of a sudden death suspicious for cardiac arrhythmia or with a personal or family history suggestive of a hereditary form of cardiac arrhythmia Identifying a...

PGDBS - Overview: Plasmalogens, Blood Spot

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)...

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...

DRV3 - Overview: Dilute Russell's Viper Venom Time (DRVVT) Confirmation, Plasma

Confirming the presence or absence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin time clotting tests...