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Test Catalog

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

HSVPB - Overview: Herpes Simplex Virus (HSV), Molecular Detection, PCR, Blood

Aiding in the rapid diagnosis of disseminated disease due to herpes simplex virus (HSV) Qualitative detection of HSV DNA This test should not be used to screen asymptomatic patients.

NCLW - Overview: Neuronal Ceroid Lipofuscinosis, Two-Enzyme Panel, Leukocytes

Supporting the biochemical diagnosis of two neuronal ceroid lipofuscinoses, CLN1 and CLN2 in whole blood specimens This test is not useful for carrier detection.

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

PSYCF - Overview: Psychosine, Spinal Fluid

Aiding in the biochemical diagnosis of Krabbe disease using cerebrospinal fluid specimens Follow-up of individuals affected with Krabbe disease Follow-up testing after an abnormal newborn screening result for Krabbe disease Monitoring...

PSA - Overview: Prostate-Specific Antigen (PSA) Diagnostic, Serum

As an aid in the detection of prostate cancer when used in conjunction with a digital rectal exam in men 50 years and older To aid in the prognosis and management of individuals diagnosed with prostate cancer

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.

PC2TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 2 (PCA-2) Titer, Spinal Fluid

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 spinal fluid specimens

PC1TC - Overview: Purkinje Cell Cytoplasmic Antibody Type 1 (PCA-1) Titer, Spinal Fluid

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 spinal fluid specimens

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

PRCAL - Overview: Procalcitonin, Serum

Monitoring antibiotic therapy and all-cause mortality for patients diagnosed with severe sepsis or septic shock in the Intensive Care Unit (ICU) or when obtained in the emergency department or other medical wards prior to ICU admission

RSBV - Overview: Rare Subepithelial Autoimmune Blistering Disease Variants, Serum

Aiding in the diagnosis of rare subepithelial autoimmune blistering diseases, including anti-laminin 332 pemphigoid, anti-p200 pemphigoid, epidermolysis bullosa acquisita, and systemic bullous lupus erythematosus

ROMA - Overview: ROMA Score (Ovarian Malignancy Risk Algorithm), Serum

Risk assessment for finding an ovarian malignancy during surgery in women who present with an adnexal mass The test is not intended as a screening or stand-alone diagnostic assay for ovarian cancer.

DCME - Overview: Dendritic Cell and Monocyte Enumeration, Blood

Aiding in the diagnosis of patients suspected of defects in innate immunity, particularly those involving monocyte and dendritic cell development This test has not been validated for the diagnosis of hematologic malignancies.

DHTS - Overview: Dihydrotestosterone, Serum

Monitoring patients receiving 5-alpha reductase inhibitor therapy or chemotherapy Evaluating patients with possible 5-alpha reductase deficiency

CEE52 - Overview: CD52 Cell Expression Evaluation, Varies

Detecting cell-surface antigens on malignant cells that are potential therapeutic antibody targets, specifically CD52 Determining the eligibility of patients for monoclonal antibody therapies Monitoring response to the therapeutic...

CARN - Overview: Carnitine, Plasma

Evaluation of patients with a clinical suspicion of a wide range of conditions including organic acidemias, fatty acid oxidation disorders, and primary carnitine deficiency using plasma specimens

CARTF - Overview: Carbamazepine Profile, Serum

Monitoring patients exhibiting symptoms of carbamazepine toxicity whose total serum carbamazepine concentration is within the therapeutic range, but who may be producing significant levels of the active metabolite epoxide Free...

FENTX - Overview: Fentanyl with Metabolite Confirmation, Chain of Custody, Random, Urine

Detection and confirmation of illicit drug use involving fentanyl Chain of custody is required whenever the results of testing could be used in a court of law. Its purpose is to protect the rights of the individual contributing the...

MMGEN - Overview: Mycoplasma genitalium, Transcription-Mediated Amplification, Post-Prostatic Massage Fluid/Urine or Peritoneal Fluids

Detecting Mycoplasma genitalium in cases of suspected infection in peritoneal fluid or prostatic secretion (VBIII) fluid/urine This test is not intended for use in medico-legal applications.

MTBXS - Overview: Mycobacterium tuberculosis Complex, Molecular Detection and Rifampin Resistance, PCR, Sputum

Rapid detection of Mycobacterium tuberculosis DNA from respiratory specimens for the diagnosis of pulmonary tuberculosis Presumptive detection of rifampin resistance based on the presence of resistance-associated mutations

LRBA - Overview: Lipopolysaccharide-Responsive Beige-Like Anchor Protein (LRBA) Deficiency, Blood

Aiding in the diagnosis of lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency This test is not useful for identifying a carrier status for LRBA deficiency.

ROPG - Overview: Measles (Rubeola) Antibodies, IgG, Serum

Determining immune status of individuals to the measles virus Documenting previous infection with measles virus in an individual without a previous record of immunization to measles virus

ROM - Overview: Measles (Rubeola) Antibodies, IgM, Serum

Determining acute-phase infection with rubeola (measles) virus using IgM antibody testing Aiding in the identification of nonimmune individuals through IgM antibody testing

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

T3 - Overview: T3 (Triiodothyronine), Total, Serum

Second-order testing for hyperthyroidism in patients with low thyroid-stimulating hormone values and normal thyroxine levels Diagnosing triiodothyronine (T3) toxicosis This test is not useful for general screening of the population...

SUAC - Overview: Succinylacetone, Blood Spot

Second-tier newborn screen for tyrosinemia type 1 (HT-1) when primary screen showed nonspecific elevations of tyrosine Diagnosing HT-1 when used in conjunction with testing for urine organic acids, liver function, alpha-fetoprotein, and...

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)...

T4BPE - Overview: Thyroxine-Binding Protein Electrophoresis, Serum

Explaining unusual thyroxine (T4), free T4, and thyroxine-binding globulin test results that do not correlate with the patient's clinical presentation Detecting the presence of aberrant thyroxine-binding proteins, such as abnormal forms...

ALBFL - Overview: Albumin, Body Fluid

Aiding in identifying the cause of ascites Aiding in differentiating exudative and transudative pleural effusions

AFP - Overview: Alpha-Fetoprotein (AFP) Tumor Marker, Serum

Follow-up management of patients undergoing cancer therapy, especially for testicular and ovarian tumors and for hepatocellular carcinoma Often used in conjunction with human chorionic gonadotropin.(2) This test is not recommended as a...

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

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

PKU - Overview: Phenylalanine and Tyrosine, Plasma

Monitoring effectiveness of dietary therapy in patients with hyperphenylalaninemia

AIAES - Overview: Axonal Neuropathy, Autoimmune/Paraneoplastic Evaluation, Serum

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 that appear...

WESDX - Overview: Whole Exome Sequencing for Hereditary Disorders, Varies

Serving as a first-tier test to identify a molecular diagnosis in patients with suspected genetic disorders, which can allow for: -Better understanding of the natural history/prognosis -Targeted management (anticipatory guidance, management...

HLHGP - Overview: Primary Hemophagocytic Lymphohistiocytosis Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of familial hemophagocytic lymphohistiocytosis (F-HLH) Establishing a diagnosis of F-HLH, allowing for appropriate management and...

RTQPC - Overview: Abnormal Prion Protein, Real-Time Quaking Induced Conversion, Spinal Fluid

Aiding in diagnosing sporadic Creutzfeldt-Jakob disease or other prion disease in patients with a rapidly progressive dementia

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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......

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...