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Test Catalog

C3FX - Overview: C3 Complement, Functional, Serum

Diagnosis of C3 deficiency Investigation of a patient with undetectable total complement level

COM - Overview: Complement, Total, Serum

Detection of individuals with an ongoing immune process First-tier screening test for congenital complement deficiencies

CYTH1 - Overview: T-Helper Cell Type 1 Cytokine Panel, Plasma

Assessment of plasma cytokine levels to understand the etiology of autoimmune and proinflammatory conditions when used in conjunction with clinical information and other laboratory testing

PAS3 - Overview: Pediatric Allergy Screen <3 Years, Serum

Establishing a diagnosis of an allergy to egg whites, milk, wheat, soybeans, and house dust mites Defining the allergen responsible for eliciting signs and symptoms Identifying allergens: -Responsible for allergic response and/or...

PNEFC - Overview: Neuroimmunology Antibody Follow-up, Spinal Fluid

Monitoring patients who have previously tested positive for 1 or more antibodies within the past 5 years in a Mayo Clinic Neuroimmunology Laboratory spinal fluid evaluation

SPPS - Overview: Stiff-Person Spectrum Disorders Evaluation, including Progressive Encephalomyelitis with Rigidity and Myoclonus, Serum

Evaluating patients with suspected stiff-person syndrome (classical or focal forms, such as stiff-limb or stiff-trunk) and progressive encephalomyelitis with rigidity and myoclonus using serum specimens

HIESG - Overview: Hyper-IgE Syndrome Gene Panel, Varies

Providing a comprehensive genetic evaluation for patients with a personal or family history suggestive of hyper-IgE syndrome (HIES) Establishing a diagnosis of HIES, allowing for appropriate management and surveillance for disease features...

HMEP - Overview: Hemiplegic Migraine With or Without Epilepsy Gene Panel, Varies

Establishing a molecular diagnosis in individuals with hemiplegic migraine Identifying disease-causing variants within genes known to be associated with hemiplegic migraine, allowing for predictive testing of at-risk family members

GA2P - Overview: Glutaric Aciduria Type II Gene Panel, Varies

Follow up for abnormal biochemical results suggestive of glutaric acidemia type II Establishing a molecular diagnosis for patients with glutaric acidemia type II Identifying variants within genes known to be associated with glutaric...

ISPP - Overview: Inherited Spastic Paraplegia Gene Panel, Varies

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

MNDP - Overview: Inherited Motor Neuron Disease Gene Panel, Varies

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

MFRGG - Overview: Marfan, Loeys-Dietz, and Aortopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of Marfan syndrome and related conditions Establishing a diagnosis for Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome,...

GNANT - Overview: Antithrombin Deficiency, SERPINC1 Gene, Next-Generation Sequencing, Varies

Evaluating antithrombin AT deficiency in patients with a personal or family history suggestive of this hereditary thrombophilia Confirming an AT deficiency diagnosis with the identification of a known or suspected disease-causing...

CGAK - Overview: Chromogranin A, Serum

Aiding in monitoring disease progression during the course of disease and treatment in patients with gastroenteropancreatic neuroendocrine tumors (grade 1 and grade 2) when used in conjunction with other clinical methods This test is not...

CDIFS - Overview: Clostridioides difficile Culture with Antimicrobial Susceptibilities, Varies

Providing an isolate suitable for antimicrobial susceptibility testing to direct antimicrobial therapy of extraluminal infections and in cases of treatment failure

RABMP - Overview: Inherited Rhabdomyolysis and Metabolic Myopathy Panel, Varies

Establishing a molecular diagnosis for patients with rhabdomyolysis and metabolic myopathy Identifying variants within genes known to be associated with rhabdomyolysis and metabolic myopathy, allowing for predictive testing of at-risk...

RFSGS - Overview: Focal Segmental Glomerulosclerosis (FSGS) and Nephrotic Syndrome Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history of steroid resistant nephrotic syndrome (SRNS) Establishing a diagnosis of hereditary SRNS Guiding treatment decisions in individuals with nephrotic syndrome

OHPG - Overview: 17-Hydroxyprogesterone, Serum

Screening test for congenital adrenal hyperplasia (CAH), caused by either 11- or 21-hydroxylase deficiency, when used in combination with testing for cortisol and androstenedione As part of a battery of tests to evaluate women with...

CTP10 - Overview: Catecholamine Fractionation, Standing, Plasma, Free

Diagnosis of pheochromocytoma and paraganglioma in specimens collected from individuals in a standing position, as an auxiliary test to fractionated plasma and urine metanephrine measurements Diagnosis and follow-up of patients with...

FQPPS - Overview: Porphyrins, Feces

Evaluation of patients who present with signs or symptoms suggestive of porphyria cutanea tarda, hereditary coproporphyria, variegate porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, or X-linked dominant...

MYEFL - Overview: Myelodysplastic Syndrome by Flow Cytometry, Bone Marrow

Detecting increased blasts Characterizing blast phenotypes Identifying abnormal patterns of myeloid maturation as seen in myelodysplastic syndromes and other clonal myeloid neoplasms Providing additional adjunct diagnostic information in...

LNBAI - Overview: Lyme Central Nervous System Infection IgG, Antibody Index, Spinal Fluid

Providing antibody index information to aid in the diagnosis of neuroinvasive Lyme disease or neuroborreliosis due to Borrelia species associated with Lyme disease (eg, Borrelia burgdorferi, Borrelia garinii, Borrelia afzelli)

BAKDM - Overview: BCR/ABL1, Tyrosine Kinase Inhibitor Resistance, Kinase Domain Mutation Screen, Sanger Sequencing, Varies

Evaluating patients with chronic myelogenous leukemia and Philadelphia chromosome positive B-cell acute lymphoblastic leukemia receiving tyrosine kinase inhibitor (TKI) therapy, who are apparently failing treatment Preferred initial test...

MAMLF - Overview: MAML2 (11q21) Rearrangement, Mucoepidermoid Carcinoma (MEC), FISH, Tissue

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

PEWE - Overview: Porphyrins Evaluation, Washed Erythrocytes

Preferred test for analysis of erythrocyte porphyrins Establishing a biochemical diagnosis of erythropoietic protoporphyria, and X-linked dominant protoporphyria

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

CSTCE - Overview: Cystatin C with Estimated Glomerular Filtration Rate (eGFR), Serum

Assessing kidney function in patients suspected of having kidney disease Monitoring treatment response in patients with kidney disease An index of glomerular filtration rate (GFR), especially in patients where serum creatinine may be...

CHRCV - Overview: Chromosome Analysis, Chorionic Villus Sampling

Prenatal diagnosis of chromosome abnormalities, including aneuploidy (ie, trisomy or monosomy) and balanced rearrangements This test is not appropriate as a first-tier test for detecting gains or losses of chromosomal material in...

LDALD - Overview: Lysosomal and Peroxisomal Disorders Newborn Screen, Blood Spot

First-tier newborn screen for the lysosomal disorders: Fabry, Gaucher, Krabbe, mucopolysaccharidosis I (MPS I) and II (MPS II), infantile neurovisceral or chronic visceral acid sphingomyelinase deficiency, and Pompe (glycogen storage...

GNMTC - Overview: Macro/Microthrombocytopenia Gene Panel, Next-Generation Sequencing, Varies

Evaluating hereditary macro- or microthrombocytopenia disorders in patients with a personal or family history suggestive of a hereditary macro- or microthrombocytopenia disorder Diagnosing hereditary macro- or microthrombocytopenia...

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

PRL - Overview: Prolactin, Serum

Aiding in evaluation of pituitary tumors, amenorrhea, galactorrhea, infertility, and hypogonadism Monitoring therapy of prolactin-producing tumors

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

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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....