Search Results

Test Catalog

ZONI - Overview: Zonisamide, Serum

Monitoring zonisamide therapy; recommended for all patients to ensure appropriate dosing Assessing medication compliance

TB2LN - Overview: Susceptibility, Mycobacterium tuberculosis Complex, Second Line, Varies

Determination of Mycobacterium tuberculosis complex minimal inhibitory concentrations to second-line antimicrobial agents

HAD - Overview: Huntington Disease, Molecular Analysis, Varies

Molecular confirmation of clinically suspected cases of Huntington disease (HD) Presymptomatic testing for individuals with a family history of HD and a documented expansion in the HTT gene

OSM24 - Overview: Osmolality, 24 Hour, Urine

Assessing the concentrating and diluting ability of the kidney using a 24-hour urine collection

TRYPP - Overview: Tryptophan, Plasma

Investigating inadequate tryptophan intake and monitoring dietary treatment

DMC2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Investigating new onset dementia and cognitive impairment plus 1 or more of the following accompaniments using cerebrospinal fluid specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis,...

MDC2 - Overview: Movement Disorder, Autoimmune/Paraneoplastic Evaluation, Spinal Fluid

Evaluating patients with suspected paraneoplastic or other autoimmune movement disorders including patients with ataxia, brainstem encephalitis, chorea, dyskinesias, myoclonus, and parkinsonism using spinal fluid specimens

EPS2 - Overview: Epilepsy, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset cryptogenic epilepsy with incomplete seizure control and duration of less than 2 years, using serum specimens Investigating new onset cryptogenic epilepsy plus 1 or more of the following accompaniments: -Psychiatric...

DMS2 - Overview: Dementia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating new onset dementia and cognitive impairment plus 1 or more of the following using serum specimens: -Rapid onset and progression -Fluctuating course -Psychiatric accompaniments (psychosis, hallucinations) -Movement disorder...

GNHMB - Overview: Hemophilia B, F9 Gene, Next-Generation Sequencing, Varies

Confirming a clinical diagnosis of hemophilia B in affected male patients with the identification of a disease-causing variant in the F9 gene Determining the disease-causing alteration within the F9 gene to delineate the underlying...

GNF13 - Overview: Factor XIII Deficiency, F13A1 and F13B Genes, Next-Generation Sequencing, Varies

Evaluating factor XIII deficiency (FXIIID) in patients with a personal or family history suggestive of FXIIID Confirming an FXIIID diagnosis with the identification of known or suspected disease-causing alterations in the F13A1 or F13B...

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

PAVAL - Overview: Paraneoplastic, Autoantibody Evaluation, Serum

Serological evaluation of patients who present with a subacute neurological disorder of undetermined etiology, especially those with known risk factors for cancer Directing a focused search for cancer Investigating neurological symptoms...

CSMPU - Overview: Controlled Substance Monitoring Panel, Random, Urine

Detecting drug use involving stimulants, barbiturates, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.

CSMHU - Overview: Controlled Substance Monitoring Hybrid Drug Profile, 20 Drug Classes, High-Resolution Mass Spectrometry and Immunoassay Screen, Random, Urine

Detecting drug use involving stimulants, barbiturate, benzodiazepines, cocaine, opioids, and tetrahydrocannabinol This test is not intended for use in employment-related testing.

B2M - Overview: Beta-2-Microglobulin, Serum

Prognosis assessment of multiple myeloma Evaluation of renal tubular disorders

MANN - Overview: Alpha-Mannosidase, Leukocytes

Diagnosis of alpha-mannosidosis This test is not useful for establishing carrier status for alpha-mannosidosis.

AMBF - Overview: Amylase, Body Fluid

Evaluation of patients with a pathological accumulation of fluid to determine whether pancreatic inflammation, pancreatic fistula, or esophageal rupture may be contributing Aiding in the diagnosis of pancreatitis

APHTS - Overview: Amphiphysin Antibody Titer Assay, Serum

Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...

APHTC - Overview: Amphiphysin Antibody Titer Assay, Spinal Fluid

Evaluating patients with recent onset of a subacute neurological disorder for which a paraneoplastic basis might be suspected, particularly if the patient has a previous history, risk factors, or family history of cancer, especially lung or...

CCMVS - Overview: Congenital Cytomegalovirus (cCMV), Molecular Detection, PCR, Saliva

Aiding in the rapid diagnosis of cytomegalovirus (CMV) infections in neonates 21 days of age or younger using saliva specimens

CCMVU - Overview: Congenital Cytomegalovirus (cCMV), Molecular Detection, PCR, Urine

Aiding in the rapid diagnosis of cytomegalovirus infections in neonates 21 days of age or younger using urine specimens

SALCT - Overview: Cortisol, Saliva

Screening for Cushing syndrome Diagnosis of Cushing syndrome in patients presenting with symptoms or signs suggestive of the disease

C1QFX - Overview: C1q Complement, Functional, Serum

Diagnosis of C1 deficiency Investigation of a patient with an absent total complement level

C8FX - Overview: C8 Complement, Functional, Serum

Diagnosis of C8 deficiency Investigation of a patient with an undetectable total hemolytic complement level

C9FX - Overview: C9 Complement, Functional, Serum

Diagnosis of C9 deficiency Investigation of a patient with a low total (hemolytic) complement level

CTSK - Overview: Cathepsin K Immunostain, Technical Component Only

Evaluation for perivascular epithelioid cell neoplasms (PEComas), alveolar soft part sarcoma, and translocation-associated renal cell carcinomas

HMHA - Overview: Heavy Metals, Hair

Detection of nonacute arsenic, mercury, and lead exposure using hair specimens

CARNU - Overview: Carnitine, Random, Urine

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias and fatty acid oxidation disorders Monitoring carnitine treatment

CRS - Overview: Chromium, Serum

Screening for occupational exposure Monitoring metallic prosthetic implant wear

HE4 - Overview: Human Epididymis Protein 4, Serum

Aiding in monitoring patients with treated epithelial ovarian cancer for recurrence or progression This test should not be used as a screening test for ovarian cancer.

HAEVI - Overview: Hemolytic Anemia Interpretation

Interpretation of the results for the evaluation of hemolytic anemia Evaluation of lifelong or inherited hemolytic anemias, including red cell membrane disorders, unstable or abnormal hemoglobin variants, and red cell enzyme disorders

GATA3 - Overview: GATA Binding Protein 3 Immunostain, Technical Component Only

Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors

HCQ - Overview: Hydroxychloroquine, Serum

Monitoring serum hydroxychloroquine concentrations, assessing compliance, and adjusting dosage in patients

GATAB - Overview: GATA-Binding Protein 3 Immunostain, Technical Component Only, Bone Marrow,

Characterizing carcinomas, including primary bladder and breast carcinomas, and some types of mesenchymal and neuroectodermal tumors

FRAG - Overview: Osmotic Fragility, Erythrocytes

Evaluating suspected hereditary spherocytosis-associated hemolytic anemia Confirming or detecting mild spherocytosis

OXU - Overview: Oxalate, 24 Hour, Urine

Monitoring therapy for kidney stones using 24-hour urine collections Identifying increased urinary oxalate as a risk factor for stone formation Diagnosis of primary or secondary hyperoxaluria

PTHRP - Overview: Parathyroid Hormone-Related Peptide, Plasma

Aiding in the evaluation of individuals with hypercalcemia of unknown origin Aiding in the evaluation of individuals with suspected humoral hypercalcemia of malignancy The test should not be used to exclude cancer or screen individuals...

Site Search

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......

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...