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Test Catalog
CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies
Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...
F8INV - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A when a variant has not been identified in the family Determining hemophilia A carrier status for at-risk female patients, ie, individuals with a family...
IFG23 - Overview: Intact Fibroblast Growth Factor 23, Serum
Diagnosing and monitoring tumor induced osteomalacia Diagnosing X-linked hypophosphatemia or autosomal dominant hypophosphatemic rickets Diagnosing familial tumoral calcinosis with hyperphosphatemia
F822B - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Known Mutation, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 22 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...
F81B - Overview: Hemophilia A F8 Gene, Intron 1 Inversion Known Mutation, Whole Blood
First-tier molecular testing for male patients affected with severe hemophilia A, when a familial intron 1 inversion has been previously identified Determining hemophilia A carrier status for at-risk female patients, ie, individuals with...
KCSF - Overview: Immunoglobulin Kappa Free Light Chain, Spinal Fluid
Diagnosing multiple sclerosis and other demyelinating conditions Evaluating patients who present with a clinically isolated syndrome in which the patient reports symptoms (headaches, optic neuritis, fatigue, and many others, depending on...
CHIMS - Overview: Chimerism Transplant Sorted Cells, Varies
Determining the relative amounts of donor and recipient cells in a specimen in sorted cell fractions An indicator of bone marrow transplant success
CHIMU - Overview: Chimerism Transplant No Cell Sort, Varies
Determining the relative amounts of donor and recipient cells in a specimen An indicator of bone marrow transplant success
Detection of acute hepatitis C virus (HCV) infection before the appearance of HCV antibodies in serum (ie, <2 months from exposure) in women who are pregnant Detection and confirmation of chronic HCV infection in women who are...
Aiding in the diagnosis of Helicobacter pylori infection and prediction of clarithromycin resistance or susceptibility directly from stool
HBAGQ - Overview: Hepatitis B Virus Surface Antigen, Quantitative, Serum
Monitoring of progression of chronic hepatitis B in individuals who are confirmed to be positive for hepatitis B surface antigen Monitoring of response to antiviral therapy in individuals who have chronic hepatitis B but are negative for...
HBABP - Overview: Hepatitis B Virus Surface Antibody Prenatal, Qualitative/Quantitative, Serum
Identifying previous exposure to hepatitis B virus in pregnant individuals Determining adequate immunity from hepatitis B vaccination during pregnancy
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.
GCLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgG, Serum
The following clinical situations, when used in conjunction with other criterial antiphospholipid antibody tests: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a...
PSF - Overview: Protein S Antigen, Free, Plasma
As part of an investigation of patients with a history of thrombosis
MCLIP - Overview: Phospholipid (Cardiolipin) Antibodies, IgM, Serum
The following clinical situations, when used in conjunction with other criterial antiphospholipid antibody tests: -Unexplained arterial or venous thrombosis -A history of pregnancy morbidity defined as 1 or more unexplained deaths of a...
RAVU - Overview: Ravulizumab, Serum
Assessing the response to ravulizumab therapy Assessing the need for dose escalation Evaluating the potential for dose deescalation or discontinuation of therapy in remission states Monitoring patients who need to be above a certain...
RBCS - Overview: Relative B-Cell Subset Analysis Percentage, Blood
Screening for humoral or combined immunodeficiencies, including common variable immunodeficiency, hyper IgM syndrome, among others, where B-cell subset distribution information is desired Assessing B-cell subset reconstitution after...
TFH - Overview: FH Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the FH gene to assist in tumor diagnosis/classification, including renal cell carcinoma, uterine/cutaneous leiomyoma, and pheochromocytoma/paraganglioma
FLARP - Overview: Free-Living Amebae, Molecular Detection, PCR, Varies
Aids in the diagnosis of primary amebic meningoencephalitis and granulomatous amebic encephalitis in spinal fluid and tissue in conjunction with clinical and radiologic findings This test should not be used to screen asymptomatic patients.
LCMAL - Overview: Malaria, Molecular Detection, PCR, Varies
Detection of Plasmodium DNA and identification of the infecting species An adjunct to conventional microscopy of Giemsa-stained films, particularly in cases of low percent parasitemia or suboptimal parasite morphology Detection and...
LMALP - Overview: Malaria PCR with Parasitemia Reflex, Varies
Detection of Plasmodium DNA and identification of the infecting species, with reflex percent parasitemia calculated using thin blood films for positive cases An adjunct to conventional microscopy of Giemsa-stained films Detection and...
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
MYODT - Overview: MYOD1 Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the MYOD1 gene to assist in tumor diagnosis/classification Assisting in the clinical management of patients with spindle cell and sclerosing rhabdomyosarcoma
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)...
SERWB - Overview: Serotonin, Blood
In conjunction with, or as an alternative to, first-order tests in the differential diagnosis of isolated symptoms suggestive of carcinoid syndrome, in particular flushing (5-hydroxyindoleacetic acid or serum chromogranin A measurements are...
TAB - Overview: Thyroid Autoantibodies Profile, Serum
As an adjunct in the diagnosis of autoimmune thyroid diseases: Hashimoto disease, postpartum thyroiditis, neonatal hypothyroidism, and Graves disease Differentiating thyroid autoimmune disorders from nonautoimmune goiter or...
HTG2 - Overview: Thyroglobulin, Tumor Marker, Serum
Follow-up of patients with differentiated thyroid cancers after thyroidectomy and radioactive iodine ablation
TLPDF - Overview: T-Cell Lymphoma, Diagnostic FISH, Varies
Detecting, at diagnosis, common chromosome abnormalities associated with specific T-cell lymphoma subtypes using a laboratory-designated probe set algorithm
SLL - Overview: Small Lymphocytic Lymphoma, FISH, Tissue
Recurrent common chromosome abnormalities in patients with small lymphocytic lymphoma (SLL) Distinguishing patients with 11;14 translocations who have mantle cell lymphoma (MCL) from patients who have SLL Detecting patients with atypical...
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
CHRCB - Overview: Chromosome Analysis, Congenital Disorders, Blood
Diagnosis of congenital chromosome abnormalities, including aneuploidy, structural abnormalities, and balanced rearrangements
C9ORF - Overview: C9orf72 Hexanucleotide Repeat, Molecular Analysis, Varies
Molecular confirmation of clinically suspected cases of c9FTD/ALS, frontotemporal dementia (FTD), or amyotrophic lateral sclerosis (ALS) Presymptomatic testing for individuals with a family history of c9FTD/ALS and a documented expansion...
GAAZ - Overview: Pompe Disease, Full Gene Analysis, Varies
Confirmation of diagnosis of Pompe disease (as a follow-up to biochemical analyses)
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
Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...
IDTRT - Overview: IDH1, IDH2, and TERT Mutation Analysis, Next-Generation Sequencing, Tumor
Identifying specific mutations within the IDH1 and IDH2 genes and the TERT promoter to assist in tumor diagnosis/classification
GALMP - Overview: Galactosemia, GALT Gene, Variant Panel, Varies
Second-tier test for confirming a diagnosis of galactosemia as indicated by enzymatic testing or newborn screening Carrier testing family members of an affected individual of known genotype (has variants included in the panel) Resolution...
POXP - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Plasma
Evaluating patients with possible peroxisomal disorders, including peroxisomal biogenesis disorders, X-linked adrenoleukodystrophy, and Refsum disease using plasma specimens Aiding in the assessment of peroxisomal function
POX - Overview: Fatty Acid Profile, Peroxisomal (C22-C26), Serum
Evaluating patients with possible peroxisomal disorders, single-enzyme defects of peroxisomal metabolism, such as X-linked adrenoleukodystrophy or peroxisomal biogenesis disorders (Zellweger syndrome spectrum) using serum specimens Aiding...
CRDPP - Overview: Creatine Disorders Panel, Plasma
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency, guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using plasma specimens
CRDPS - Overview: Creatine Disorders Panel, Serum
Evaluating patients with a clinical suspicion of arginine:glycine amidinotransferase deficiency,guanidinoacetate methyltransferase deficiency, and creatine transporter deficiency using serum specimens
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...
BHDZ - Overview: Birt-Hogg-Dube Syndrome, FLCN, Full Gene Analysis, Varies
Evaluating patients with a personal or family history suggestive of Birt-Hogg-Dube (BHD) syndrome Establishing a diagnosis of BHD syndrome allowing for targeted cancer surveillance based on associated risks Identifying variants within...
B2GMG - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG and IgM, Serum
Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM and IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies...
ATPCO - Overview: Anal ThinPrep Cytology with Human Papillomavirus (HPV) Co-Test, Varies
Detection of malignant and premalignant changes Detection of high-risk (HR) genotypes associated with the development of anal cancer Individual genotyping of human papillomavirus (HPV)-16 and HPV-18, if present May aid in triaging men...
HBAGP - Overview: Hepatitis B Virus Surface Antigen Prenatal, Serum
Diagnosis of acute, recent, or chronic hepatitis B Determination of chronic hepatitis B status Screening pregnant women for evidence of chronic hepatitis B (or hepatitis B carrier state) to identify neonates who are at high risk of...
F8INP - Overview: Hemophilia A F8 Gene, Intron 1 and 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a variant has not been identified in the family
F822P - Overview: Hemophilia A F8 Gene, Intron 22 Inversion Mutation Analysis, Prenatal
Prenatal testing for hemophilia A when a F8 intron 22 inversion has been identified in a family member
CHSBP - Overview: Chronic Hepatitis B Monitoring Profile, Serum
Evaluating and monitoring individuals with known chronic hepatitis B Monitoring hepatitis B viral infectivity after resolution of acute hepatitis B
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vitamin_b12_deficiency_evaluation.pdf
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, Serum Testing...
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_mucopolysaccharidosis_type_i.pdf
rights reserved. 03/2024 Newborn screen result: decreased alpha-L-iduronidase (IDUA) Order 1 from each of the following groups: ■ IDUAW / Alpha-L-Iduronidase, Leukocytes AND ■ MPSBS / Mucop......
Algorithms - Mayo Clinic Laboratories
F G H I J K L M ...
lysosomal_storage_disorders_diagnostic_algorithm__part_1.pdf
Order: IDUAW / Alpha-L-Iduronidase, Leukocytes Order 1 of the following: ■ BGA / Beta-Galactosidase, Leukocytes ■ MPS4B ■ MPS4W Order: FUCW / Alpha-Fucosidase, Leukocytes Order 1 of the following: MPS4W...