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NHEP - Overview: Hereditary Erythrocytosis Gene Panel, Next-Generation Sequencing, Varies

Evaluating an individual with JAK2-V617F negative erythrocytosis associated with lifelong sustained increased red blood cell (RBC) mass, elevated RBC count, hemoglobin, or hematocrit Providing an extensive genetic evaluation for patients...

NMITO - Overview: Nuclear Mitochondrial Gene Panel, Next-Generation Sequencing, Varies

Diagnosing the subset of mitochondrial disease that results from variants in the nuclear-encoded genes A second-tier test for patients in whom previous targeted gene variant analyses for specific mitochondrial disease-related genes were...

GNPFD - Overview: Platelet Function Defect Gene Panel, Next-Generation Sequencing, Varies

Diagnosing hereditary platelet function defect disorders for patients who have a distinct platelet function defect pattern, such as Bernard-Soulier syndrome, revealed by laboratory phenotypic testing Confirming a hereditary platelet...

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...

TALAF - Overview: T-Cell Acute Lymphoblastic Leukemia/Lymphoma (ALL), FISH, Adult, Varies

Detecting, at diagnosis, recurrent common chromosome abnormalities associated with T-cell acute lymphoblastic leukemia/lymphoma (T-ALL) in adult patients As an adjunct to conventional chromosome studies in patients with T-ALL Evaluating...

INFXR - Overview: Infliximab Quantitation with Reflex to Antibodies to Infliximab, Serum

Trough level quantitation for evaluation of patients undergoing therapy with infliximab, with signs and symptoms of loss of response to therapy.

THYRP - Overview: Hereditary Thyroid Cancer Panel, Varies

Evaluating patients with a personal or family history suggestive of a hereditary thyroid cancer syndrome Establishing a diagnosis of a hereditary thyroid cancer syndrome, allowing for targeted surveillance based on associated...

PARDP - Overview: Inherited Parkinson Disease Gene Panel, Varies

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

DRVI1 - Overview: Dilute Russell's Viper Venom Time (DRVVT), with Reflex, Plasma

Detecting and confirming or helping to exclude the presence of lupus anticoagulants (LA) Identifying LA that do not prolong the activated partial thromboplastin time (APTT) Evaluating unexplained prolongation of the APTT or prothrombin...

E1 - Overview: Estrone, Serum

As part of the diagnosis and workup of precocious and delayed puberty in females and, to a lesser degree, males As part of the diagnosis and workup of suspected disorders of sex steroid metabolism (eg, aromatase deficiency and 17...

DCLNG - Overview: Dilated Cardiomyopathy and Left Ventricular Noncompaction Cardiomyopathy Gene Panel, Varies

Providing a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of dilated cardiomyopathy or left ventricular noncompaction Establishing a diagnosis of a hereditary form dilated cardiomyopathy...

ISNP - Overview: Inherited Sensory Neuropathy Gene Panel, Varies

Establishing a molecular diagnosis for patients with hereditary sensory (HSN) and autonomic neuropathy (HSAN) Identifying variants within genes known to be associated with HSN and HSAN, allowing for predictive testing of at-risk family...

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...

BTWGS - Overview: Bacterial Typing, Whole Genome Sequencing, Varies

Aiding in the investigation of a potential outbreak by a single bacterial species May assist in identification of recurrent infection in an individual patient

CLLDF - Overview: Chronic Lymphocytic Leukemia, Diagnostic FISH, Varies

Detecting recurrent common chromosome abnormalities in patients with chronic lymphocytic leukemia (CLL) Distinguishing patients with 11;14 translocations who have the leukemic phase of mantle cell lymphoma from patients who have...

H2GE - Overview: HER2 Amplification Associated with Gastroesophageal Cancer, FISH, Tissue

A predictive marker for patients with both node-positive or node-negative primary and metastatic gastroesophageal cancer Guiding therapy for patients with primary or metastatic gastroesophageal tumors, as patients with HER2 amplification...

PQNRU - Overview: Porphyrins, Quantitative, Random, Urine

Preferred test to begin assessment for congenital erythropoietic porphyria and porphyria cutanea tarda and during symptomatic periods for acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria when specimen...

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

EFPO - Overview: Electrolyte and Osmolality Panel, Feces

Workup of cases of chronic diarrhea Diagnosis of factitious diarrhea (where patient adds water to stool to simulate diarrhea)

LMALP - Overview: Malaria PCR with Parasitemia Reflex, Varies

Detection of Plasmodium DNA and identification of the infecting species, with reflex percent parasitemia calculated using thin blood films for positive cases An adjunct to conventional microscopy of Giemsa-stained films Detection and...

RETF - Overview: Lung Cancer, RET (10q11) Rearrangement, FISH, Tissue

Identifying RET gene rearrangements in patients with late-stage, lung adenocarcinomas that are negative for epidermal growth factor receptor mutations and anaplastic lymphoma kinase rearrangements Fluorescence in situ hybridization (FISH)...

MPS4B - Overview: Mucopolysaccharidosis IV Enzyme Panel, Blood Spot

Supporting the biochemical diagnosis of mucopolysaccharidosis type IVA and IVB This test is not useful for carrier detection.

MGMTD - Overview: MGMT Promoter Methylation Analysis, Tumor

Prognostication of newly diagnosed patients with glioblastoma Identification of newly diagnosed glioblastoma patients that may derive benefit from alkylating chemotherapy (ie, temozolomide) Therapy selection for newly diagnosed...

MPS2R - Overview: Endogenous Mucopolysaccharidosis Type II (I2S [Iduronate-2-Sulfatase]) Biomarker Reflex, Blood Spot

Second-tier testing of newborns with an abnormal primary screening result for mucopolysaccharidosis type II (MPS II, decreased iduronate-2-sulfatase) where quantitation of the glycosaminoglycans dermatan and heparan sulfate is desired in...

MDM2F - Overview: MDM2 (12q15) Amplification, Well-Differentiated Liposarcoma/Atypical Lipomatous Tumor, FISH, Tissue

Identifying MDM2 amplification Supporting the diagnosis of many neoplasms, including, but not limited to, well-differentiated liposarcoma, atypical lipomatous tumor, dedifferentiated liposarcoma, parosteal osteosarcoma and central...

GIP - Overview: Gastrointestinal Pathogen Panel, PCR, Feces

Rapid detection of gastrointestinal infections caused by: -Campylobacter species (Campylobacter jejuni/Campylobacter coli/Campylobacter upsaliensis) -Clostridioides difficile toxin A/B -Plesiomonas shigelloides -Salmonella species -Vibrio...

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...

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.

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...

BCLL - Overview: IGH Somatic Hypermutation Analysis, B-Cell Chronic Lymphocytic Leukemia (B-CLL), Varies

Providing prognostic information in patients with newly diagnosed B-cell chronic lymphocytic leukemia This test is not intended for use in providing prognostic information for patient with other B-cell neoplasms or hematopoietic tumors.

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...

INHA - Overview: Inhibin A, Tumor Marker, Serum

Aiding in the diagnosis of patients with granulosa cell tumors of the ovary when used in combination with inhibin B Monitoring of patients with granulosa cell tumors and epithelial mucinous-type tumors of the ovary known to secrete inhibin...

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...

PAI1 - Overview: Plasminogen Activator Inhibitor Antigen, Plasma

Identification of heredity elevation or deficiency of plasminogen activator inhibitor type 1 Determination of risk for veno-occlusive disease associated with bone marrow transplantation Differential diagnosis of impaired fibrinolysis...

RIB - Overview: Ribosome P Antibodies, IgG, Serum

As an adjunct in the diagnostic evaluation of patients with systemic lupus erythematosus (SLE) May be useful in the phenotypic stratification of SLE patients at risk for neuropsychiatric SLE, lupus nephritis and/or hepatitis

PBGDW - Overview: Porphobilinogen Deaminase, Washed Erythrocytes

Confirmation of a diagnosis of acute intermittent porphyria using washed erythrocyte specimens

AFH - Overview: Factor H Autoantibody, Serum

Detection and quantification of antibodies to factor H Monitoring patients with known factor H autoantibodies Aiding in the differential diagnosis of thrombotic microangiopathy and C3 glomerulopathies

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

TGOGF - Overview: TGFBR3 (1p22), OGA (10q24) Rearrangement, FISH, Tissue

Supporting the diagnosis of pleomorphic hyalinizing angiectatic tumor, or hemosiderotic fibrolipomatous tumors associated with rearrangement of the OGA and/or TGFBR3 gene when used in conjunction with an anatomic pathology consultation

SSB - Overview: SS-B/La Antibodies, IgG, Serum

Evaluating patients with clinical features or at-risk for connective tissue disease, especially Sjögren syndrome.

T4 - Overview: T4 (Thyroxine), Total Only, Serum

Monitoring treatment with synthetic hormones (synthetic T3 [triiodothyronine] will cause a low total T4 [thyroxine]) Monitoring treatment of hyperthyroidism with thiouracil and other anti-thyroid drugs Index of thyroid function when the...

VMA - Overview: Vanillylmandelic Acid, 24 Hour, Urine

Screening children for catecholamine-secreting tumors using a 24-hour urine collection when requesting testing for vanillylmandelic acid only Supporting a diagnosis of neuroblastoma Monitoring patients with a treated neuroblastoma

WNVS - Overview: West Nile Virus, RNA, PCR, Molecular Detection, Serum

Rapid testing for West Nile virus (WNV) RNA (lineage 1 and lineage 2) using serum specimens An adjunctive test to serology for detection of early WNV infection (ie, first few days after symptom onset) This test should not be used for...

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Week in Review: February 3 - Insights

Include: President Biden to End Covid-19 Emergencies On May 11, and Children’s Minnesota Received $3 Million Grant To Address Pediatric Health Disparities....

Top 3 reasons to join us at Leveraging the Laboratory 2025 - Insights

variety of perspectives pertaining to health system laboratory outreach programs. Here are the top 3 reasons why you should attend....

Detection of (1→3)-𝝱-D-glucan as a Marker of Invasive Fungal Disease - Insights

In this month’s “Hot Topic,” Elitza Theel, Ph.D., will discuss the detection of (1→3)-β-D-glucan (BDG) in serum as a biomarker for the presence of invasive fungal infections....

Phlebotomy Modules: Module 3 | Insights

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