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Test Catalog

IL1B - Overview: Interleukin-1 Beta, Plasma

Measuring the concentration of interleukin-1 beta in plasma Evaluating patients experiencing inflammatory conditions, autoinflammatory disorders, and infection

POU - Overview: Phosphorus, 24 Hour, Urine

Evaluation of hypo- or hyper-phosphatemic states Evaluation of patients with nephrolithiasis

VITE - Overview: Vitamin E, Serum

Monitoring of Vitamin E supplementation/treatment Potentially detecting Vitamin E overdoses

ROC - Overview: Rubeola (Measles) Antibodies, IgG and IgM, Spinal Fluid

Diagnosing central nervous system rubeola (measles) virus infection and/or subacute sclerosing panencephalitis

PA - Overview: Procainamide and N-Acetylprocainamide, Serum

Monitoring therapy with procainamide Assessing compliance Evaluating procainamide toxicity

DWPAN - Overview: Comprehensive Distal Weakness Gene Panel, Varies

Establishing a molecular diagnosis for patients with distal weakness Identifying variants within genes known to be associated with distal weakness, allowing for predictive testing of at-risk family members

GNANG - Overview: Hereditary Angioedema Focused Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary angioedema (HAE) with normal C1 inhibitor (C1INH) in patients with a suggestive personal or family history Confirming a diagnosis of HAE with normal C1INH with the identification of a known or suspected...

GID2 - Overview: Gastrointestinal Dysmotility, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating unexplained weight loss, early satiety, anorexia, nausea, vomiting, constipation, or diarrhea in a patient with a past or family history of cancer or autoimmunity Directing a focused search for cancer Investigating...

SUP24 - Overview: Supersaturation Profile, 24 Hour, Urine

Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available -May aid in designing a treatment program...

AMLAF - Overview: Acute Myeloid Leukemia (AML), FISH, Adult, Varies

This test should not be used to screen for residual acute myeloid leukemia (AML). Useful at diagnosis for detecting recurrent common chromosome abnormalities in adult patients with AML An adjunct to chromosome studies in patients with...

DHR - Overview: Dihydrorhodamine Flow Cytometric Test, Blood

Evaluation of chronic granulomatous disease (CGD), X-linked and autosomal recessive forms, Rac2 deficiency, complete myeloperoxidase deficiency Monitoring chimerism and nicotinamide adenine dinucleotide phosphate oxidase (NOX) function...

DYS2 - Overview: Dysautonomia, Autoimmune/Paraneoplastic Evaluation, Serum

Investigating idiopathic dysautonomic symptoms Directing a focused search for cancer in patients with idiopathic dysautonomia Investigating autonomic symptoms that appear in the course or wake of cancer therapy and are not explainable by...

GALZ - Overview: Galactosemia, GALT Gene, Full Gene Analysis, Varies

Identifying variants in individuals who test negative for the common variants and who have a biochemical diagnosis of galactosemia or galactose-1-phosphate uridyltransferase activity levels indicative of carrier status

MSUDP - Overview: Maple Syrup Urine Disease Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of maple syrup urine disease (MSUD) Establishing a molecular diagnosis for patients with MSUD Identifying variants within genes known to be associated with MSUD, allowing for...

OIBFG - Overview: Osteogenesis Imperfecta and Bone Fragility Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive osteogenesis imperfecta and other hereditary conditions associated with bone fragility

SUPRA - Overview: Supersaturation Profile, Random, Urine

Diagnosis and management of patients with renal lithiasis: -Predicting the likely composition of the stone, in patients who have a radiopaque stone, for whom stone analysis is not available which may help in designing a treatment...

BTK - Overview: Bruton Tyrosine Kinase, Protein Expression, Flow Cytometry, Blood

Preliminary screening for X-linked agammaglobulinemia, primarily in male patients (<65 years) or female carriers (child-bearing age: <45 years)

MB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgM, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgM antibodies First-line test when antiphospholipid syndrome is strongly suspected in conjunction with cardiolipin antibodies (IgG...

GB2GP - Overview: Beta-2 Glycoprotein 1 Antibodies, IgG, Serum

Evaluating patients with suspected antiphospholipid syndrome by identification of beta-2 glycoprotein 1 IgG antibodies First-line test when antiphospholipid syndrome is strongly suspected, in conjunction with cardiolipin antibodies (IgG...

2C19R - Overview: Cytochrome P450 2C19 Genotype, Varies

Identifying patients who may be at risk for altered metabolism of drugs that are modified by cytochrome P450 2C19 Predicting anticoagulation response to clopidogrel

MPS2Z - Overview: Hunter Syndrome, Full Gene Analysis, Varies

Confirmation of a diagnosis of mucopolysaccharidosis type II (Hunter syndrome) Carrier testing when there is a family history of mucopolysaccharidosis type II (Hunter syndrome), but disease-causing variants have not been previously...

QHV6P - Overview: Human Herpesvirus-6 A and B DNA Detection and Quantification, PCR, Plasma

As an adjunct in the rapid diagnosis of human herpesvirus-6 infection using plasma specimens This test should not be used to screen asymptomatic patients

FAPM - Overview: Fatty Acid Profile, Mitochondrial (C8-C18), Serum

Biochemical diagnosis of inborn errors of mitochondrial fatty acid oxidation, including deficiencies of medium-chain acyl-Co-A dehydrogenase, long-chain 3-hydroxyacyl-Co-A dehydrogenase, very long-chain acyl-Co-A dehydrogenase, and glutaric...

HCVRP - Overview: Hepatitis C Virus (HCV) RNA Detection and Quantification, Real-Time Reverse Transcription-PCR, Prenatal, Serum

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...

XL2T - Overview: FOXL2 Mutation Analysis, Next-Generation Sequencing, Tumor

Assisting in the clinical diagnosis of adult granulosa cell tumor by assessing gene targets with in the FOXL2 gene

MESOF - Overview: Mesothelioma, CDKN2A FISH, Tissue

Supporting the diagnosis of mesothelioma when used in conjunction with an anatomic pathology consultation

PBORB - Overview: Lyme Disease, Molecular Detection, PCR, Blood

Supporting the diagnosis of Lyme disease in conjunction with serologic testing This test should not be used to screen asymptomatic patients.

LMPP - Overview: Lipoprotein Metabolism Profile, Serum

Diagnosing dyslipoproteinemia Quantifying cholesterol and triglycerides in very-low-density lipoprotein, low-density lipoprotein (LDL), high-density lipoproteins (HDL), and chylomicrons Identifying lipoprotein-X Classifying...

17PRN - Overview: Pregnenolone and 17-Hydroxypregnenolone, Serum

An ancillary test for congenital adrenal hyperplasia (CAH), particularly in situations in which a diagnosis of both 21- and 11-hydroxylase deficiency have been ruled out Confirming a diagnosis of 3-beta-hydroxysteroid dehydrogenase...

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...

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

ALLOI - Overview: Allo-isoleucine, Blood Spot

Evaluation of newborn screening specimens that test positive for branched-chain amino acids elevations Follow-up of patients with maple syrup urine disease

BETV2 - Overview: BET v2 (Profilin), IgE, Serum

Evaluation of patients suspected birch pollen allergy Evaluation of patients with suspected peanut allergy Evaluation of patients with oral allergy syndrome to other pollens or plant-based foods Testing for IgE antibodies is not useful...

BNZU - Overview: Benzodiazepines Confirmation, Random, Urine

Detecting drug use involving benzodiazepines such as alprazolam, chlordiazepoxide, clonazepam, diazepam, midazolam, oxazepam, temazepam, clobazam, flunitrazepam, flurazepam, lorazepam, prazepam, triazolam, and zolpidem

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

DOCK8 - Overview: Dedicator of Cytokinesis 8 (DOCK8) Deficiency, Blood

Aiding in the diagnosis of dedicator of cytokinesis 8 (DOCK8) deficiency This test is not useful for assessing DOCK8 carrier status.

IN16Q - Overview: CBFB::MYH11 Inversion(16), Quantitative Detection and Minimal Disease Risk Monitoring, qRT-PCR, Varies

Detection of CBFB::MYH11 gene fusion in patients recently diagnosed with acute myeloid leukemia (AML) Minimal residual disease monitoring during the clinical and therapeutic course of patients with AML

199PT - Overview: Carbohydrate Antigen 19-9 (CA 19-9), Peritoneal Fluid

An adjunct to cytology to differentiate between malignancy-related ascites and benign causes of ascites formation

SFIG - Overview: Cerebrospinal Fluid IgG Index Profile, Serum and Spinal Fluid

Aiding in the diagnosis of multiple sclerosis and other central nervous system inflammatory conditions

LKM - Overview: Liver/Kidney Microsome Type 1 Antibodies, Serum

Evaluation of patients with liver disease of unknown etiology Evaluation of patients with suspected autoimmune hepatitis

LYME - Overview: Lyme Disease Serology, Serum

Diagnosing Lyme disease This test should not be used as a screening procedure for the general population. This test should not be used for treatment monitoring.

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

PKUSC - Overview: Phenylalanine and Tyrosine, Self-Collect, Blood Spot

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

PR3 - Overview: Proteinase 3 Antibodies, IgG, Serum

Evaluating patients with clinical features of anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, specifically granulomatosis with polyangiitis (GPA), microscopic polyangiitis, and eosinophilic granulomatosis with...

PSAU - Overview: Prostate-Specific Antigen (PSA) Ultrasensitive, Serum

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

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The Region 4 Stork (R4S) Collaborative Project - Insights

describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....

The Region 4 Stork (R4S) Collaborative Project - Insights

describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....

The Region 4 Stork (R4S) Collaborative Project - Insights

describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....

The Region 4 Stork (R4S) Collaborative Project - Insights

describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....

The Region 4 Stork (R4S) Collaborative Project - Insights

describing the products and clinical tools of a laboratory quality improvement project called Region 4 Stork, or R4S....