Search Results

Test Catalog

PLP - Overview: Pyridoxal 5-Phosphate, Plasma

Determining vitamin B6 status, including in persons who present with progressive nerve compression disorders, such as carpal tunnel and tarsal tunnel syndromes Determining the overall success of a vitamin B6 supplementation...

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,...

SCIDP - Overview: Severe Combined Immunodeficiency (SCID) Gene Panel, Varies

Establishing a diagnosis of a severe combined immunodeficiency (SCID) associated with known causal genes Identifying variants within genes known to be associated with SCID, allowing for predictive testing of at-risk family members and/or...

LRCCZ - Overview: Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome, FH, Full Gene Analysis, Varies

Evaluating patients with a personal or family history suggestive of hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome or fumarate hydratase deficiency (FHD) Establishing a diagnosis of HLRCC or FHD allowing for targeted...

GUSBB - Overview: Beta-Glucuronidase, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis VII (MPS VII, Sly syndrome) This test is not useful for determining carrier status for MPS VII.

BA48F - Overview: Bile Acids, Bowel Dysfunction, 48 Hour, Feces

Aids in evaluation of patients suspected of having irritable bowel syndrome-diarrhea symptoms due to bile acid malabsorption

BMIPB - Overview: Borrelia miyamotoi Detection, PCR, Blood

Aiding in the diagnosis of Borrelia miyamotoi infection in conjunction with clinical findings Preferred method for detection of B miyamotoi using blood specimens

ALAD - Overview: Aminolevulinic Acid Dehydratase, Whole Blood

Preferred confirmation test for the diagnosis of aminolevulinic acid dehydratase deficiency porphyria This test is not useful for detecting lead intoxication.

A124 - Overview: Alpha-1-Microglobulin, 24 Hour, Urine

Assessment of renal tubular injury or dysfunction using 24-hour urine collections Screening for tubular abnormalities Detecting chronic asymptomatic renal tubular dysfunction(2)

AFPSF - Overview: Alpha-Fetoprotein (AFP), Spinal Fluid

An adjunct in the diagnosis of central nervous system (CNS) germinomas and meningeal carcinomatosis Evaluating the presence of germ-cell tumors in the CNS, in conjunction with cerebrospinal fluid (CSF) beta-human chorionic gonadotropin...

AN3TS - Overview: Antineuronal Nuclear Antibody Type 3 (ANNA-3) Titer, Serum

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for primary lung carcinoma Reporting an end titer result from serum specimens

AN2TS - Overview: Antineuronal Nuclear Antibody Type 2 (ANNA-2) Titer, Serum

Investigating middle-aged or older patients who present with unexplainable signs of midbrain/cerebellar/brain stem disorder and/or myelopathy, especially women with a previous history of breast cancer, and both sexes if there is a history...

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.

HRTVS - Overview: Heartland Virus, RNA, Molecular Detection, PCR, Serum

Aiding in the diagnosis of central nervous system infection caused by Heartland virus using serum specimens

HER2I - Overview: HER2 Immunostain, Technical Component Only

Qualitative detection of HER2 protein overexpression in a diagnostic setting in formalin-fixed paraffin-embedded tissue sections

JAK2B - Overview: JAK2 V617F Mutation Detection, Blood

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using peripheral blood specimens

JAK2M - Overview: JAK2 V617F Mutation Detection, Bone Marrow

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using bone marrow specimens

JAK2V - Overview: JAK2 V617F Mutation Detection, Varies

Aiding in the distinction between a reactive blood cytosis and a chronic myeloproliferative disorder using extracted DNA specimens

CHRTI - Overview: Chromosome Analysis, Skin Biopsy

Diagnosis of mosaic congenital chromosome abnormalities, including mosaic aneuploidy and mosaic structural abnormalities Subsequent chromosome analysis when results from peripheral blood are inconclusive

C2 - Overview: C2 Complement, Functional, with Reflex, Serum

Investigation of a patient with a low (absent) hemolytic complement, with reflex testing to C3 and C4, if appropriate

HEX4 - Overview: Glucotetrasaccharides, Random, Urine

Diagnosing Pompe disease, when used in conjunction with acid alpha-glucosidase enzyme activity assays and molecular genetic analysis of the GAA gene Monitoring patients with Pompe disease on enzyme replacement therapy May support the...

HPFH - Overview: Hemoglobin F Distribution, Blood

Distinguishing large deletional hereditary persistence of fetal hemoglobin from other conditions with increased percentage of fetal hemoglobin (Hb F) Determining the distribution of Hb F within red blood cells

HBRP - Overview: Histoplasma capsulatum/Blastomyces species, Molecular Detection, PCR, Varies

Rapid detection of Histoplasma capsulatum and Blastomyces dermatitidis DNA Aiding in the rapid diagnosis of histoplasmosis and blastomycosis

NMH1D - Overview: N-Methylhistamine, 24 Hour, Urine

Screening for and monitoring of mastocytosis and disorders of systemic mast-cell activation, such as anaphylaxis and other forms of severe systemic allergic reactions as a part of a profile Monitoring therapeutic progress in conditions...

OPTU - Overview: Orthostatic Protein, Timed Collection, Urine

Diagnosis of orthostatic proteinuria As a second-order test for additional characterization of proteinuria of less than 3 grams/24 hours, particularly in children or adolescents

LNORO - Overview: Norovirus PCR, Molecular Detection, Feces

Diagnosing gastrointestinal disease (diarrhea or vomiting) caused by norovirus genogroups 1 and 2 This test should not be used as a test-of-cure.

PMLR - Overview: PML::RARA Quantitative, PCR, Varies

Diagnosis of acute promyelocytic leukemia (APL) Detection of residual or recurrent APL Monitoring the level of PML::RARA (promyelocytic leukemia/retinoic acid receptor alpha) in APL patients

PLPMA - Overview: Prolactin, Pituitary Macroadenoma, Serum

Quantifying prolactin in serum specimens where the high-dose hook effect is suspected (eg, presence of pituitary tumor with symptoms of prolactinoma, and lower than expected serum prolactin concentration)

PKUBS - Overview: Phenylalanine and Tyrosine, Blood Spot

Monitoring effectiveness of therapy in patients with hyperphenylalaninemia This test is not sufficient for follow-up for abnormal newborn screening results or for establishing a diagnosis of a specific cause of hyperphenylalaninemia

PPFE - Overview: Protoporphyrins, Fractionation, Whole Blood

Evaluating patients with possible diagnoses of erythropoietic protoporphyria or X-linked dominant protoporphyria Establishing a biochemical diagnosis of erythropoietic protoporphyria and X-linked dominant protoporphyria

PC1TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Serum

Identifying female patients whose subacute cerebellar degeneration or peripheral neuropathy is due to a remote (autoimmune) effect of gynecologic or breast carcinoma Reporting an end titer result from serum specimens

PC2TS - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Serum

Evaluating patients who present with a subacute neurological disorder of undetermined etiology and have risk factors for lung cancer Reporting an end titer result from serum specimens

PIPU - Overview: Pipecolic Acid, Random, Urine

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in urine

PRSSZ - Overview: PRSS1 Gene, Full Gene Analysis, Varies

Confirmation of suspected clinical diagnosis of hereditary pancreatitis (HP) in patients with chronic pancreatitis Identification of familial PRSSI mutation to allow for predictive and diagnostic testing in family members

PIPA - Overview: Pipecolic Acid, Serum

Differentiating between disorders of peroxisomal biogenesis (eg, Zellweger syndrome) and disorders with loss of a single peroxisomal function Detecting abnormal elevations of pipecolic acid in serum

SHIGC - Overview: Shigella Culture, Feces

Determining whether Shigella species may be the cause of diarrhea Reflexive testing for Shigella species from nucleic acid amplification test-positive stool This test is generally not useful for patients hospitalized more than 3 days...

EMA - Overview: Endomysial Antibodies, IgA, Serum

Analysis of IgA-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease

EMAIG - Overview: Endomysial Antibodies, IgG, Serum

Analysis of IgG-endomysial antibodies for the diagnosis of dermatitis herpetiformis and celiac disease Monitoring adherence to gluten-free diet in patients with dermatitis herpetiformis and celiac disease

EAEBV - Overview: Epstein-Barr Virus Early Antigen, IgG, Serum

Diagnosis of Epstein Barr virus (EBV) infectious mononucleosis in cases when heterophile antibody test results are negative and EBV-specific serologic testing is inconclusive Aiding in the diagnosis of type 2 or type 3 nasopharyngeal...

CARBI - Overview: Carbapenem Resistance Genes, Molecular Detection, PCR, Varies

Detecting and differentiating blaKPC, blaNDM, blaVIM, blaOXA-48, and blaIMP gene sequences associated with carbapenem intermediate or resistant results Aiding in infection control in the detection of gastrointestinal colonization of...

TULM - Overview: Francisella tularensis Antibody, IgM, ELISA, Serum

Evaluating the presence of IgM antibodies in patients with suspected tularemia caused by Francisella tularensis This test should not be used as a test of cure as it is not quantitative. Patients may remain seropositive for months to years...

TULG - Overview: Francisella tularensis Antibody, IgG, ELISA, Serum

Evaluating the presence of IgG antibodies in patients with suspected tularemia caused by Francisella tularensis This test should not be used as a test of cure as it is not quantitative. Patients may remain seropositive for months to years...

KI67B - Overview: Ki-67(MIB-1), Breast, Quantitative Immunohistochemistry, Automated

Determining proliferation of tumor cells in paraffin-embedded tissue blocks from patients diagnosed with breast carcinoma

KKRP - Overview: Kingella kingae, Molecular Detection, PCR, Varies

Aiding in the diagnosis of Kingella kingae infection using tissue or synovial fluid specimens

Site Search

mdazl-rhode-island-certification.pdf

0 Q £ IS l -t1 .,. ... ';.� +"'" ¾liNT 0� State of Rhode Island DEPARTMENT OF HEALTH Center for Health Facilities Regulation This is to certify that MAYO CLINIC MOLECULAR...

newborn_screen_follow-up_for_x-linked_adrenoleukodystrophy.pdf

(MFMER). All rights reserved. 03/2023 Newborn screen result: Elevated lysophosphatidylcholines C24:0, C26:0 Order POX / Fatty Acid Profile, Peroxisomal (C22-C26), Serum Elevated very long chain fatty a....

galactosemia_testing_algorithm.pdf

07/2024 GALT <24.5 nmol/h/mg of hemoglobin GALT ≥24.5 nmol/h/mg of hemoglobin 2 variants identified 0–1 variants identified and discordant enzyme results 1 variant identif......

critical-values-semi-urgent-results-list.pdf

High Units Activated Partial Thromboplastin Time, Plasma Any – ≥ 150 sec Fibrinogen Any ≤ 60 – mg/dL 0 – 7 weeks ≤ 6.0 ≥ 24.0 g/dL > 7 weeks ≤ 6.0 ≥ 20.0 g/dL INR (International Normalizing Ratio......

vitamin_b12_deficiency_evaluation.pdf

© Mayo Foundation for Medical Education and Research (MFMER). All rights reserved. 03/2022 Vitamin B12 Deficiency Evaluation <150 ng/L>400 ng/L 150-400 ng/L ≤0.4 nmol/mL >0.4 nmol/mL INDETERMINATE ACASM / Pernicious Anemia Cascade,...