Search Results

Test Catalog

LPALD - Overview: Lipoprotein (a) and Low-Density Lipoprotein Cholesterol, Serum

Evaluation of the contribution of lipoprotein (a) (Lp[a])-cholesterol within measured low-density lipoprotein cholesterol Evaluation of increased risk for cardiovascular disease and events: -Most appropriately measured in individuals at...

SSCTU - Overview: S-Sulfocysteine Panel, Urine

Diagnosis of molybdenum cofactor deficiency, isolated sulfite oxidase deficiency, and hereditary xanthinuria Monitoring patients with molybdenum cofactor deficiency or isolated sulfite oxidase deficiency who are on treatment

TOXB - Overview: Toxoplasma gondii, Molecular Detection, PCR, Blood

Supporting the diagnosis of active toxoplasmosis, particularly in immunocompromised individuals

TGABI - Overview: Thyroglobulin Antibody, Serum

Initial testing as a part of evaluating suspected interference from heterophile antibodies causing a falsely elevated thyroglobulin result

SBULB - Overview: Spinobulbar Muscular Atrophy (Kennedy Disease), Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of sporadic or familial spinobulbar muscular atrophy (SBMA) Presymptomatic testing for individuals with a family history of SBMA and a documented expansion in the androgen receptor (AR)...

TSTIM - Overview: Targeted Stimulant Screen, Random, Urine

Aiding in the determination of compliance or identify illicit stimulant drug use This test is not intended for use in employment-related testing.

VWFMP - Overview: von Willebrand Factor Multimer Analysis, Plasma

As a reflex component of several coagulation consultation unit codes, when indicated When results of complementary laboratory tests are abnormally low or discordant (eg, F8A / Coagulation Factor VIII Activity Assay, Plasma; VWACT / von...

HMGCR - Overview: 3-Hydroxy-3-Methylglutaryl Coenzyme-A (HMG-CoA) Reductase, Serum

Evaluating patients with suspected necrotizing autoimmune myopathy Measuring 3-hydroxy-3-methylglutaryl-CoA reductase antibodies

23BPR - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, Random, Urine

Screening for mast cell activation disorders including systemic mastocytosis using random urine specimens

SFUNG - Overview: 1,3-Beta-D-Glucan (Fungitell), Serum

Aiding in the diagnosis of invasive fungal infections caused by various fungi, including Aspergillus species, Fusarium species, Candida species, and Pneumocystis jirovecii, among others

YMCRO - Overview: Y Chromosome Microdeletions, Molecular Detection, Varies

Evaluating men with azoospermia, severe oligozoospermia, or otherwise unexplained male factor infertility

GLP - Overview: Glucagon, Plasma

Diagnosis and follow-up of glucagonomas and other glucagon-producing tumors Assessing diabetic patients with problematic hyper- or hypoglycemic episodes (extremely limited utility)

HL58R - Overview: HLA-B*5801 Genotype, Allopurinol Hypersensitivity, Varies

Identifying individuals with an increased risk of severe cutaneous adverse reactions to allopurinol based on the presence of the human leukocyte antigen HLA-B*58:01 allele

B6PRO - Overview: Vitamin B6 Profile (Pyridoxal 5-Phosphate and Pyridoxic Acid), 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 program...

CASRG - Overview: CASR Full Gene Sequencing with Deletion/Duplication, Varies

Providing a genetic evaluation of individuals with a personal or family history of familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, or autosomal dominant hypoparathyroidism (autosomal dominant...

MMAGP - Overview: Methylmalonic Aciduria Gene Panel, Varies

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

FMTT - Overview: Familial Variant, Targeted Testing, Varies

Diagnostic or predictive testing for specific conditions when a DNA variant of interest has been previously identified in a family member and follow-up testing for this specific variant in other family members is desired Carrier screening...

MSCSF - Overview: Bacteria, Virus, Fungus, and Parasite Metagenomic Sequencing, Spinal Fluid

Detecting and identifying pathogenic organisms including bacteria, fungi, DNA viruses, RNA viruses, and parasites in cerebrospinal fluid This test is not recommended as a test of cure because nucleic acids may persist after successful...

ASMW - Overview: Acid Sphingomyelinase, Leukocytes

Investigation of possible diagnosis of Niemann-Pick disease types A and B This test is not recommended for carrier detection because of the wide range of enzymatic activities observed in carriers and noncarriers.

AATTA - Overview: Antithrombin Summary Interpretation

Diagnosis of antithrombin deficiency, acquired or congenital Monitoring treatment of antithrombin deficiency disorders, including infusion of antithrombin therapeutic concentrate

AH50 - Overview: Alternative Complement Pathway, Functional, Serum

Investigation of suspected alternative pathway complement deficiency, atypical hemolytic uremic syndrome, C3 glomerulonephritis, and dense-deposit disease

WAGDR - Overview: Alpha Globin Cluster Locus Deletion/Duplication, Blood

Diagnosis of alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia This test is not useful for diagnosis or confirmation of beta-thalassemia or hemoglobinopathies.

AGNTS - Overview: Anti-Glial/Neuronal Nuclear Antibody-Type 1 (AGNA-1) Titer, Serum

Reporting an end titer result from serum specimens Serological evaluation using serum specimens from patients who present with a subacute neurological disorder of undetermined etiology, especially those with risk factors for primary lung...

AN1TS - Overview: Antineuronal Nuclear Antibody-Type 1 (ANNA-1) Titer, Serum

Diagnosis of paraneoplastic autoimmune neuropathies, encephalomyeloradiculopathies, related neurologic disorders, and intestinal pseudo-obstruction/dysmotility associated with small-cell lung carcinoma Reporting an end titer result from...

AL - Overview: Aluminum, Serum

Preferred monitoring for aluminum toxicity in patients undergoing dialysis Preferred test for routine aluminum screening Monitoring metallic prosthetic implant wear

IL6DX - Overview: Interleukin-6, Serum

Evaluating patients with suspected chronic inflammatory disorders, such as rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, or inflammatory bowel disease Evaluating patients with Castleman disease Evaluating...

CMAT - Overview: Chromosomal Microarray, Tumor, Fresh or Frozen

Genomic characterization of tumor for copy number imbalances and loss of heterozygosity Assisting in the diagnosis and classification of malignant neoplasms, including hematolymphoid malignancies Evaluating the prognosis for patients with...

CRAV - Overview: Cortisol, Right Adrenal Vein, Serum

Testing cortisol levels in the right adrenal vein Second-order testing when cortisol measurement by immunoassay gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous...

CIVC - Overview: Cortisol, Inferior Vena Cava, Serum

Testing cortisol levels in the inferior vena cava Second-order testing wen cortisol measurement by immunoassay gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous...

CLAV - Overview: Cortisol, Left Adrenal Vein, Serum

Testing cortisol levels in the left adrenal vein Second-order testing wen cortisol measurement by immunoassay gives results that are not consistent with clinical symptoms, or if patients are known to, or suspected of, taking exogenous...

CRMTS - Overview: Collapsin Response-Mediator Protein-5 (CRMP-5) Neuronal IgG Titer, Serum

Evaluation of neurological autoimmunity particularly that associated with small-cell lung carcinoma and thymoma Reporting an end titer result from serum specimens

NTRK - Overview: NTRK Gene Fusion Panel, Tumor

Identifying solid tumors that may respond to targeted therapies by simultaneously assessing for fusions involving targeted regions of the NTRK1, NTRK2, and NTRK3 genes resulting in fusion transcripts. This test is not useful for...

OAPNS - Overview: Ova and Parasite, Microscopy, Varies

Detecting and identifying parasitic protozoa and eggs and larvae of parasitic helminths

MAL - Overview: Rapid Malaria/Babesia Smear, Varies

Rapid and accurate detection and species identification of Plasmodium Detection of Babesia, trypanosomes, and some species of microfilariae

CRITH - Overview: DNA Double-Stranded (dsDNA) Antibodies by Crithidia luciliae IFA, IgG, Serum

Confirmation testing for dsDNA IgG antibodies in patients with clinical features of systemic lupus erythematosus or at-risk for disease This test should not be used independently for monitoring treatment response or establishing...

C341Q - Overview: Complement C3 and C4 with Anti-C1q Antibodies, Serum

Evaluating patients with suspected anti-C1q vasculitis Predicting renal involvement in patients with systemic lupus erythematosus

C1INF - Overview: C1 Esterase Inhibitor, Functional, Serum

Diagnosing hereditary angioedema Monitoring response to C1 esterase inhibitor replacement therapy

LAD1 - Overview: Leukocyte Adhesion Deficiency Type 1, CD11a/CD18 and CD11b/CD18 Complex Immunophenotyping, Blood

Aiding in the diagnosis of leukocyte adhesion deficiency syndrome type 1, primarily in patients younger than 18 years CD11a, CD11b, and CD18 phenotyping

MBLF - Overview: Mannan Binding Lectin Complement Pathway, Functional, Serum

Investigating recurrent meningococcal disease in young children Investigating recurrent or severe infections in adults Investigating glomerular kidney diseases Additionally, deficiencies or dysregulation within the complement system may...

SERPZ - Overview: SERPINA1 Gene, Full Gene Analysis, Varies

Identification of causative mutations when a deficient serum level of alpha-1-antitrypsin is not explained by routine testing, such as proteotyping, genotyping, or isoelectric focusing phenotyping. Determining the specific allelic variant...

WNVBL - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Blood

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset), with blood specimens potentially providing a greater...

VLCZ - Overview: Very Long Chain Acyl-CoA Dehydrogenase Deficiency, Full Gene Analysis, Varies

Confirmation of a diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency Carrier screening in cases where there is a family history of VLCAD deficiency, but an affected individual is not available for testing or...

VHLE - Overview: VHL Gene, Erythrocytosis, Mutation Analysis, Varies

Diagnosis of suspected JAK2-negative VHL-related erythrocytosis associated with lifelong sustained increased RBC mass, elevated RBC count, hemoglobin, or hematocrit

7AC4 - Overview: 7AC4, Bile Acid Synthesis, Serum

Screening for bile acid malabsorption in patients with irritable bowel syndrome with diarrhea

23BPT - Overview: 2,3-Dinor 11 Beta-Prostaglandin F2 Alpha, 24 Hour, Urine

Screening for mast cell activation disorders including systemic mastocytosis using 24-hour urine specimens

2425D - Overview: 25-Hydroxyvitamin D:24,25-Dihydroxyvitamin D Ratio, Serum

As a screening test for inactivating CYP24A1 variants in patients with symptoms, signs, or biochemical findings of parathyroid hormone-independent hypercalcemia or hypercalciuria

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,...